M A U R IC E P .

R A V A U LT
G IA O S U T H A C S i LY O N

NGL/OI DjCH

GS. BS. HA HUY TIEN

CAC HOI CHUNG

NHAN KHOA
Vtfl BENH LY TOflN THAN

NHA XU AT BAN Y HOC

 BANG 1

H U d N G DAN T R A CUfU

Tl/ MQT TRIEU CHlJNG NHAN KHOA

DI DEN CHAN DOAN BENH
HOAC HQI CHUfNG
I. T R I$U CHUfNG CUA HOC MAT

a) LOI NHAN CAU

- Alberr Schonberg 5 - Gruber 292

- Apert 16 - Hand - Schuller - Chris-
- Bertolotti 61 tian 308
- Crouzon 158 - Pierre Marie v& Sainton
- Devic - Bussy - Gardner 183 554
- Gansslen 257 - Recklinghausen 575

b) THUT NHAN CAU

- Kurz 410 - Steiner 660

- Romberg 592

c) KHOANG CACH HAI MAT XA NHAU

(Hypertelorisme)

7
 Apert 16 - Gruber 292
Bartenwerfer 40 - Hurler 346

Bonnevie - Ullrich- - Lange 417

Turner 91
Crouzon 158 - Lejeune 429
Freeman - Sheldon 244 - Patau 537

Gansslen 257 - Potter 562

Greig 287 - Pyle 567

2. TR IEU CHtfNG CUA Ml MAT

a) NEP QUAT GOC TRONG MI (Epicanthus)

Bartenwerfer 40 - Langdon Down 416

Bonnevie - Ullrich - - Potter 562
Turner 91
Freeman - Sheldon 244 - Rubinstein - Taybi 601
Klein 389 - Waardenburg - Klein 728

b) SUP MI

- Bonnevie - Ullrich - - Nonne - Milroy -

Turner 91 Meige 509
- Gregg 286 - Recklinghausen 575
- Laffer - Ascher 412 - Romberg 592
- Marcus - Gunn 452 - Waardenburg - Klein 728

c) SAC TO MI

- Fabry 205 - Ota 524

8
- Herrick 326 - Peutz - Touraine 545
- Hippel (Von) - Lindau 331 - Recklinghausen 575
- Klippel - Trenaunay 392

d) U M A CH (Angiomatose)

- Rendu - Osier 583 - Rubinstein - Taybi 601

- Rothmund 599 - Sturge - Weber - Krabble 672

e) X E C H KHE MI

- Apert 16 - Lange 417

- Bartenwerfer 40 - Lejeune 429
- Bonnevie - Ullrich - - Leri 431
Turner 91
- Elschnig 199 - Pierre Marie va Sainton 554
- Franceschetti - Zwahlen 238 - Rubinstein - Taybi 601
- Langdon Down 416

g) VENH BCf MI - HCJ MI

- Apert 16 - Franceschetti - Zwahlen 238

- Bar 34 - Melkersson - Rosenthal 468
- Elshnig 199 - Moebius 484

h) DINH MI - N H A N CAU, LONG XIEU

- Diihring - Brock 190 - Lyell 446

- Fiessinger - Rendu 221 - Stevens - Johnson 662
- Gougerot - Sjogren 278

9
 i) LECH CHO DIEM LE

(Dystopie des points lacrymaux)

- Franceschetti - Zwahlen 238 - Rocher - Sheldon 588

- Klein 389 - Waardenburg - Klein 728

3. K H 6 NU dC MAT

- Christ - Siemens 135 - Riley - Day 585

- Gougerot - SjOgren 278 - Rocher - Sheldon 588

4. KHONG NHAN CAU VA NHAN CAU B E

- Bonnevie - Ullrich Peters 544

Turner 91
- B ou m ev ille 96 Reese - Blodi 577
- Francois J: H oi chiing Robin (Pierre) 586
loan xtfong dau 239
- G regg 286 Sjogren (hpi churng) 644
- Krause 406 Smith - Patau 649
- Leri 431 Terry 684
- Little 439 Ullrich - Feichtiger 704
- Morsier (De) 494 Weyers - Thier 752

5. G IAC MAC

a) VIEM GlAC MAC DO ROI LOAN DINH D U 0N G

- Cogan 143 - Peters 544

- Duhring - Brock 190. - Riley - Day 585

10
- Fiessinger - Rendu 221 - Rosenthal - Kloepfer 596
- Gougerot - Sjogren 278 - Savin 616
- Hanhart 309 - Smith - Patau 649
- Lyell 446 - Spannlang - Tappeiner 654
- Melkersson - Rosenthal 468 - Still 663

b) CAC BENH TICH (Thesaurismoses)

- Bonnevie - Ullrich - - Hand - Schuller -

Turner 91 Christian 308
- Burger - Grutz 114 - Hurler 346
- Fabry 205 - Leri 431
- Francois J vh Detroit 241 - Lignac - Fanconi 436
- Gaucher 262 - Morquio - Ullrich 493
- Gierke (Von) 268 - Tangier 678

c) BAT BINH THUCJNG VE KICH THUCfC VA B 0 CONG

- Alport 10 - Langdon Down 416

- Apert 16 - Reiger 579
- Bourneville 96 - Sjogren (hQi churng) 644

- Hurler 346

6. MONG MAT

a) VIEM M ONG MAT

- Behcet 51 - Harada 311

- Besnier - Boeck - - Still 663
Schaumann 62 - Vogt - Koyanaghi 717

11
 Vj j K.HY 'i V/Y TAT V.<) > . M.V\
- Biemond 72 - Reiger '> ■''
- B o u r n e v ille 96 - Srrnth - P a t a u 6 4 9

- Gregg 286 - Ullrich - Feichtiger

- H ennebert 323 - Weyers - Thier 752
- Hurler 346

c) DI SAC MONG MAT

- Klein 389 - Passow 536

- Langdon Down 416 - Romberg 592

- Mende 469 - Waardenburg - KJein 728

- Ota 524

di MANG DONG TU

- Bonnevie - Ullrich - - Peters 544

Turner 91
- G reg g 286 - Reiger 579.
- L o w e 445 - Weill - Marchesani 743
- M arfan 454

7. GLOCOM BAM SINH

' -Apert 16
- Peters 544
- Gregg 286
H u r ler 3 4 5 - Recklinghausen 575
' Krause 406 - Reiger 5 7 9
' Lowe 445 ' £J° bin (Pierre) 5 8 6
R u h ia s t e i n . Taybi 6 0 1
12
 •i'iff;iri 1.> 1 . St urge - Weber - xvrabbe 672

■■- ' >i*■ - Miln.v - M e i g e 5 09 - Toni (D o) -D ebr e - Fanconi

692

1’ atau .r>;;, _ We i l l - M n r c h e s a n i 713

8. T H E T H U Y TINH

a) D U O THE T H U Y TINH 15AM S IX H

- Albright 6 Gregg 286

- Alport 10 Hallgren 307
- Apert 16 Hirschprung 333
- Blegvad - Haxthausen 78 Hurler 346
- Bonnevie - U llrich - Langdon Down 416
Turner 91
- Christ - Siem ens 135 Little 439
- Couradi - Hiinerm ann 150 - Lowe 445
- Ellis - Creveld (Van) 198 - Marfan 454
- Fabry 205 Marinesco - S jogren 458
- Francois (J): H oi churng Peters 544
loan xi/cfng ddu 239
- Goppert 277 Robin (Pierre) 586
- Graefe (Von) - L indenov Rothmund 599
282

b) BAT BINH THUO’NG VE H iN H D AN G VA VI TRI

- Alport 10 - Marfan 454

- Charcot - Marie - T ooth 130 - Sjogren (hoi chufng) 644

- Gregg 286 - Weill - Marchesani 743

13
 9. V O N G MAC

a) T H O A I H O A T A P E T O - V O N G M A C

- Albright 6 - Little 439

- Alstrom 11 - Marfan 454
- Amalric - Diallinas 13 - Pelizaeus - Merzbacher 542
- Bassen va Kornzweig 42 - Pierre Marie 552
- Biemond 72 - Refsum 578
- Cockayne 142 - Rud 602
- Farber 210 - Sanger Brown 613
- Friedreich 246 - Sjogren: Loan dtfdng mo
- Gilford - Hutchinson 271 li/di s^c to 645
- Graefe (Von)-Lindenov 282 - Sjogren - Larsson 646
- Gregg 286 - Sorsby 652
- Hallgren 307 - Steinert 660
- Hirchsprung 333 - Toni (De) - Debre -
- Hurler 346 Fanconi 692
- Kearns 382 - Urbach - Wiethe 709
- Laurence - Moon - - Usher 711
Bardet - Biedl 420

b) C^ M "D° anh DAO" h o An g d ie m

- Farber 210
- Landing 414
- Gaucher 262 VT.
- Niemann - Pick 508
- Jansky - BieJschowsky 367 . Tay . Sach, 680

14
 c) GIA GLIOM

- Krause 406 - Robin (Pierre) 586

- Norrie 511 - Terry 684

- Reese - Blodi 577

10. TON THUONG THI THAN KINH

- Albers S ch on b erg 5 - Little 439

- Bertolotti 61 - Menkes 471
- Camurati - Engelman 120 - Morgagni - Morel 491
- Charcot - Marie - Tooth 130 - Morsier (De) 494
- Crouzon 158 - Niemann - Pick 508
- Friedreich 246 - Patau 537
- Guillain - Barre 296 - Pelizaeus - Merzbacher 542
- Hirschprung 333 - Pierre Marie 552
- Hodgkin 334 - Pyle 567
- Holtenmuller - Wieder- - Sanger Brown 613
mann 338 - Schilder - Foix 623
- Tay - Sachs 680

11. BACH tan g MAT

Chediak - Higashi 132 - Mende 469

Foiling 231 - Vogt - Koyanaghi 717

Harada 311 - Waardenburg - Klein 728

15
 BANG II

B EN H , HOI CHQN G VA T R IE U
C H tiN G THUAN T U Y NHAN KHOA

I. K E T MAC

a) VIEM KET MAC

- Axenfeld: viem ket mac co hot 24

- Beal: viem ket mac co hot 47

- Dejean -Temple: viem ket mac co hot 175
- Morax - Axenfeld: viem ket mac d goc do song tri/c
khuan 488

- Newcastle: viem ket mac do virus 504

- Parinaud: hoi chiJng ket mac - hach 529
- Pascheff: viem ket mac nhilm khuan cap 535
- Pfeiffer: viem ket mac do trifc khuan Pfeiffer 547
- Sanyal: viem ket mac do nam actynomyces 614
- Widmark: viem ket mac cSp 753

b) LINH TINH

- Arlt (di/dng) 19
- Bitot (cham) 76

16
 - Brownlee (dau hieu) 109
- Meyer (dau hieu) 474
- Parinaud (u bieu m o-da) 530
- Pick (dau hieu) 549
- Prowazek (Von) - Halberstaedter (tieu the) 565
- Trantas (hat) 697
- W eeks (true khuan) 740
Ghi chu: Nhufng benh va hoi chufng co trieu chufng ket
mac phoi hop thi tra cufu banj^lV i V m u c g (dinh mi
T*"
- nhan cau; long xieu).

2. G IA C MAC

a) LOAN DUONG

- Bietti: loan dudng giac mac co not kieu that lung 74

- Bietti: loan dtfong tinh the chu bien gi&c mac 75

- Coats: vong giac mac 141

- Cogan: loan dtfdng vi u nang bieu mo 145
- Fehr: loan dtfdng gidc mac cham nhu mo 215
- Franceschetti: loan dirdng gidc mac cham sau 235
- Franceschetti: xtfdc gi5c mac di truyen tai diin 236
- Francois (J): loan dudng may md trung tam giac mac 240
. - Francois (J) - Detroit: loan dudng bi - xtfcfng sun - giac
mac 241
- Francois (J) - Neetens: loan dirdng giac mac lom dom 243
- Fuchs: loan dirdng giac mac noi bieu mo 248

17
Groenouw: loan dudng gi^c mac not nhu mo 289
Haab - Dimmer: loan dudng gi£c mac mang ludi nhu
mo 304.
Hassal - Henle: tieu the 314
Hudson - Stahli (dudng) 342
Kayser - Fleischer (v6ng) 381
Koby: loan dirdng mo ludi 396
Kraupa: loan dudng bieu mo 405
Krukenberg (thoi) 407

Maeder: loan dudng bieu mo 466

Moncrief (dudng) 485
Orzalesi: loan dudng giac mac md d ngudi ldn 521
Pillat: loan dudng nhu mo 555
Reis - Bucklers: loan dudng gidc mac hinh vong 581
Schnyder: loan dudng tinh the 627
Stocker (dudng) 666

Terrien: gian phinh vung bd gi^c mac 683

Vogt: cornea farinata 723

Vogt: Thodi hoa ria gi£c mac hinh v&nh dai tr^ng 721

Waardenburg - Jonkers: loan dudng gidc mac 727

b) VIEM GIAC MAC

Dimmer: viem giac mac hinh ddng tien 184

Favaloro: viem noi mo gi^c mac; tho£i h6a noi md 211

Fuchs: viem giac mac cham nong 250

 - Herbert: tieu hoa h ong 324
- Herbert: viem gi^c mac cham 325
- Hutchinson: viem giac mac khe giang mai di truyen 347
- Kirk - Patrik: viem giac mac vet cham 387
- Manthner: viem giac mac cham 450
- Mooren: loet nao sau (uleus rodens) 487
- Salzmann: viem giac mac not 611
- Thygeson: viem giac mac cham 689
- Vossius: viem giac mac hinh vong 725

- Westhoff: viem gidc mac chSm 750

c) LINH TINH

- Axenfeld: v&ng due ph6i sau gidc mac 25

- Ehrlich - Turck (dirdng) 197

- Fleischer (dirdng) 223

- Gaule (chfi'm) 263
- Haab (ke vfin) 302
- Munson (dfi’u hieu) 497
- Oppenheim (dfi'u hieu) 520
- Peters (di dang) 544
- Reiger (hoi churng) 579

- Sattler (man che) 615

- Seidel (dau hieu) 633

Ghi chu: Nhufng benh v& hQi chtfng c6 trieu chtfng giac
mac phoi hop, xem bang tra curu I, phin 5 (giac mac).

19
 3. MANG BO DAO

a) TO N TH U O N G VIEM

Busacca: not 116

Doyne: viem mong mStt Guttata 188
Fleischer: viem h^c mac 224
Forster: viem h^c mac tan man 232
Gilbert: viem mong mat tai diln 270
Harada (benh) 311
Hutchinson: viem mong m£t tham lSng 350
Jensen: viem hac - vong mac ngay canh gai 372
Kitahara: viem hac mac thanh dich trung tam 338
Michel (cham) 476
Ridley: viem hac mac do giun onchocerca 584
Vogt - Koyanaghi (benh) 717

b) TON THUONG THOAl H 6 a

Brushfield (cham) 110

Fuchs: bien s£c mong mdt 247
Hutchinson - Tay: viem h ie mac Guttata 355
Siegrist: ke van hinh soi chi don dang 636

c) LINH TINH

Hagen (dau hieu) 305

Villaret (tam chtfng) 714
Wachendorf: m^ng dong tur 730
 Ghi chu: NhCrng benh va hoi chUng co trieu chufng mong
mat phoi hap, xem bang tra curu I, phan 6 (M ong mat).

4. GLOCOM

- Graefe (Von): glocom khong t&ng nhan ap 281

- P osner - Schlossmann: can glocom the mi 561
- Vogt: glocom do bao the thuy tinh 719
Ghi chu: Nhufng benh va hoi chufng co phoi hap vai glocom
bam sinh, xem bang tra cufu I phan 7 (Glocom bam sinh).

5. TH E THUY TINH

- Andogsky. due the thuy tinh thupc tang di urng 15

- Butler: the thuy tinh hinh chop phxa trong 118
- Coppock: due the thuy tinh "coppock" 153
- Elschnig: hat chSu 199
- Koby: due the thuy tinh hinh hoa 397
- Morgagni: due th£ thuy tinh qu£ chin 490
- Soemmering (v6ng) 650
- Vogt: due th l thuy tinh ruft n£t 720
- Vogt: (dfi'u hi#u) 722
- Vossius: due the thuy tinh hinh vdng do dung dap 724
- Weill - Marchesani: the thuy tinh nh6, trbn va ngdn
dang 743.
Ghi chu: Nhufng benh \k hoi churng c6 trieu chufng ve
the thuy tinh, xem bang tra ctfu I, phln 8 (Due th£ thuy
tinh b£m sinh, bfi't thudng ve hinh dang v& vi tri).

21
 6. DICH KINH

(Xem them bang tra ctfu I, ph£n 9, muc C

noi ve gia gliom)
- Benson, viem dich kinh hinh sao 58
- Favre: tho£i hda dich kinh - vong mac 212
/
- Goldmann - Favre: tho£i h6a dich kinh tapeto - vong
mac 275
- Irvine: hoi chtfng hau phiu d m&t khong c6n th£ thuy
tinh 356
- Wagner: loan dirdng dich kinh - vong mac 731

7. VONG MAC

a) THOAI HOA VONG MAC

Trung tam
- Best: thoai hoa hoang diem or tre em 63
- Batten - Mayou (Spielmeyer - Vogt - Stock): chiing ngu -
mu 45
- Behr: thoai hoa hoang diem di truyen d ngirdi ldn 53
- Braley: loan diforng da dang 98
- Coppez - Danis: thoai hoa hoang diem dich ri d ngirdi
gia 152
- Doyne: thoai hoa hoang diem kieu "tang to ong' 187

- Haab: thoai hoa ho&ng diem teo d ngi/di gi& 301

- Holthouse - Batten: thoai hda dang keo 339

- Jansky - Bielschowsky: churng ngu - mu muon 367

22
 - Kufs: chiing ngu - mu a ngtfdi ldn 408
- Norman - Wood: chufng ngu - mu cf tre scf sinh 510
- Stargardt: thoai hoa hoang diem 659
- Sjogren: loan diiang mo ltfdi s&c to 645
- Sorsby: loan dtfong gia - viem 652
- Sorsby: lo khuyet hoang diem va hoi chufng da di dang 651
- Tay - Sachs: chufng ngu - mu kinh dien 680
Chu bien
- Alstrom (hoi chufng) 11
- Biemond (hoi chufng) 72
- Kearns (hoi chufng) 382
- Kurz (hoi chtfng) 410
- Leber: mu bam sinh 426
- Laurence Moon Bardet Biedl (hQi chufng) 420
- Nougaret: chtfng quang g k vo cSn gia dinh 513
- Oguchi: qudng ga b^m sinh 516

b) LOAN SAN (gi£ gliom)

- Lange (n§p gfi'p) 417

- Norrie (b^nh) 511
- Reese - Blodi: loan san vong mac 577
- Terry: xcr san sau the thuy tinh 684

c) H 0I CHLfNG THAN KINH - DA VA BENH U MACH

- Bonnet - Dechaume v k Bland: phinh mach roi vong

mac 90

23
Bourneville: xo hoa cu 96
Coats: viem vong mac dich ri ra ngo&i 140
Hippel (Von) - Lindau: u mac vong mac - tieu nao 331
Leber: u mach hat ke vong mac 424
Recklinghausen: u xo than kinh 575
Reese: u mach m£u mao mach 576
Sturge - Weber - Krabbe: u than kinh - mach nao -
mat 672

d) LINH TINH

Berlin: phu hoang diem do cha'n d6ng 60

Blessig: nang u vong mac chu bien 79
Bouchut: u hat ke hac - vong mac 95
Crowe: dau hieu trong huyet khoi xoang hang 160
Eales: viem quanh tinh mach vdi xuat huyet vong mac
dich kinh tai dien a ngUdi tre 193
Fuchs: cham sac to hoang diem d mdt can thi 249
Gonin - Vogt, mang ludi hang rao 276
Gunn: dau hieu b^t ch6o dong - tinh mach 298
Hirschberg: viem vong mac trung tam do dai thao
dudng 332
Leber: viem vong mac phu gia albumin 425
Purtscher: benh mach sau chan thuong 566
Roth: viem vong mac nhiem khuan 598
Sabin - Feldman: viem h£c - vong mac gia lo khuyet
hoang diem 603
 - Weber: lo chu bien vong mac 737
Ghi ch u : Nhufng benh va hoi chufng co trieu chufng ve
vong mac, xem bang tra cufu I, ph&n 9 (Vong mac).

8. TH| THAN KINH - GAI TH|

- Beauvieux: gia teo thj than kinh do muon myelin hoa 48

- Behr: teo thj t h i n kinh di truyen - gia dinh 52
- Bergmeister: gai thi phoi thai 59
- Foster - Kennedy (hoi churng) 233
- Fuchs: lo khuyet gai thi d phia di/di 252
- Jacobson: viem than kinh - vong mac do giang mai 364
- Leber: viem thi thsin kinh di truyen v& gia dinh 423
- Rollet: hoi chiing dinh ho' mdt 590
- Weiss: dnh hinh cung ngay canh gai thi 744
Ghi chu: Nhutag benh v& h<?i chtfng co ton thuong thi
than kinh, xem bang tra cufu I, phdn 10 (Ton thifcfng thi
th in kinh).

9. DISCING TH| G IA C VA DtfdNG PHOI H 0 P

- Balint: hpi churng mSft diiu h6a thi gi6c 31

- Bjerrum: dm diem hinh v6ng cung d ngtfdibi glocom 77
- Cogan: m£'t dung dong t£c van nhan 144
- Gerstmann: hoi chufng t§m ly - thi gi£c 267
- Hoeve (Van der) di£m mu r§ng them 335
- Mariotte: diem mu thi trifdng 459
- Seidel: dm dicsm hinh ngon n§n 632

25
Traquair: am diem noi thi than kinh - giao thoa 698

10. L$ BQ - DAU NHUfC MAT

Bogorad: hQi churng "ntfdc m it cA sfi'u" 88

Charlin: hQi chting m it - mui 131
Creyx - L6vy: tfa nude m it - nirdc mifng 157
Gougerot - Sjogren: viem giAc - k£t mac kho vdi kho
ni§m mac va trifu chufng khdp 278
Harris: chtfng nhufc nufa dau kich phat 312
Mikulicz: phi dai tuy£n 1§ vk tuy£n ni/dc bot 477
Pel: con xdy ra d m it trong benh Tabet 541
Riley - Day: 585
Sluder. Hoi chufng hach budm - v6m m ieng 647

11. Ml MAT

a) DAU HIEU

Bell (Charles): her mi \k nhan cau dua len trong liet

mat 56
Boston: dau hieu cUifng tuyen giap 94
Chvostek: dau hieu benh tetani 137

Collet: dau hieu lift mat 146

Dalrymple: co rut mi trong benh cifdng tuyen giap 163

Dupuy - Dutemps: dau hifu lift mat 191

Enroth: dau hifu cUdng tuyen giap 201

Fuchs: dau hieu ctfdrng tuyen giip 253

- Galata: dau hieu cUdng tuyen giap 256
- Gifford: dau hieu ctfcmg tuyen giap 269
- Graefe (Von): m at d on g van nhan cau - mi mat trong
benh ciiang tuyen giap 280
- Hency: dau hieu a mi trong liet mat 320

- Jellinek: sic to' ra mi 371

- Joffroy: dau hieu cUcrng tuyen giap 373

- Kocher: da'u hieu cUdng tuyen giap 398

- Nicolski: dau hieu bong ldp bieu mo da 506

- Rosenbach: rung mi trong b#nh ctfdng tuyen giap 595

- Sainton: dfiu hi$u ctfftng tuyS'n giap 609

- Stellwag: it chdrp m it trong benh cUdng tuyen giap 661

b) PHAN XA DONG DONG

- Bechterew: phan xa oc tai - mi m it 49

- Fuchs: dong dong ky di (gii dau hifu Von Graefe) 251

- Guillain: phan xa th in kinh sinh ba - mi m it 295

- Mac Carthy: phan xa th in kinh sinh ba - mi m it 447

- Marcus - Gunn: d6ng dong k£ di mi m it - ham 452

- Marin Amat: d6ng dong ky di mi m it - ham 457

c) LINH TINH

- Hutchinson: bo mat vdi sup mi 2 m it 349

- Jacob: ung thu te bao day mi m it 360

- Quincke: phu di umg 568

27
 Ghi chu: Nhufng benh va hoi chufng c6 trieu churng a mi.
xem bang tra cufu I, phan 2 (Mi m it ).

12. HOC MAT

- Collier: liet khe budm 147

- Dejean: hQi chufng skn h6'c mdt 174

- Greig: tat 2 m£t xa nhau qua 287

- Hutchinson: di can vao hoc m^t do u thuong than d

tre em 348

- Le Fort: dudng gay d khoi xuong mat 427

Ghi chu: NhUng benh va hoi chUng co trieu chUng a hoc

mat, xem bang tra cUu I phan 1 (H oc m^t).

13. VAN NHAN

a) H 0 I C H tfN G CO RUT

- Di dang bam sinh cua van nhan.

- Axenfeld va Schurenberg: hifn tuong co chu ky cua

day than kinh III 26

- Brown: hoi chUng bao co ch6o ldn 106

- Hertwig - Magendie: phan ly dong tac nhin 327

- Kiloh - Nevin: liet van nhan ngoai lai tuin tien 384

- Moebius: liet mat hai ben va liet day VI hai ben 483
- Turk - Stilling - Duane: co rut nhan dm khi liec vao
trong 702

28
 b) LAC M A T - RUNG GIAT NHAN CAU

- Bielschowsky: lac an tren luan phien 68

- Bielschowsky: tang hoat ca cheo be 69
- Frenzel: m ot the loai rung giat nhan cau 245
- Lenoble - Aubineau: mot the loai rung giat nhan cau 430
- Mygind: dau hieu ro me dao 498
- Swan: hoi chUng diem mu 675

c) D A U HIEU HOAC TEST

- Ballet: dau hieu loi nhan cau do benh tuyen giap 32
- Bielschowsky: dau hieu liet ca cheo ldn 66
- Moebius: thieu n&ng quy tu trong benh ctfdng tuyen
giap 484
- Suker: dau hieu cUdng tuyen giap 673
Ghi chu: Tra cufu them nhufng hoi chufng c6 ton thirang
than kinh va bang danh muc nhufng b$nh cua h# than kinh
va benh cua ca a bang tra ctfu III (phan 3).
/
14. DONG TLf

a) DAU HIEU

- Argyll - Robertson: mat phan xa quang van vdri co d6ng

tuf; dong tur khong trbn deu vk khong can bang nhau 18
- Bumke: dong tur cang tnfcrng luc 113
- Cowen: dau hieu dong tuf trong benh ctfdng tuyen giap 154
- Graefe (Von): hien tugng dong tuf 283
- Gunn: ton thtfcmg phan xa quang van true tiep 297
- Hutchinson: gian d6ng tuf do liet 352
- Kinnier - Wilson: dong tuf lac ch6 386

29
Knies: dau hieu dong ttf trong benh ctf&ng tuyen giap 395
Loewi: dau hieu dong tuf trong benh ctfdng tuyen giap 441

Moskowsky: dau hieu dong tuf do ton thtfong a xa 495

Roque: gian dong tuf do t6n thtfcfng d xa 594

Thies: co dong tuf giao cam do ton thtfong a xa 687

b) H 0 I CHtfNG

Adie: dong tuf ctfcfng ltfc 4

Claude Bernard - Horner: b§ ba tri§u chtfng do ton

thuong giao cfim co 139

Popek: hoi chtfng can mach canh 559

Pourfour du Petit: hoi chtfng tang htfng phan giao cam 563

c) PHAN XA - HIEN TUONG DONG TLf

Behr: hien ttfcfng d6ng ttf trong bdn manh 54

Haab: phan xa dong ttf vo nao - thi giac 303
Piltz - Westphal: hien ttfcrng ddng dong mi mat - dong
ttf 556
Wernicke: phan tfng ban thi 748

15. NHIN MAU S A C

Dalton mil mau do 162
Hart: ton thtfcfng nhe ve hop phan mau do 313
Nagel: mu mau xanh luc 500
Rayleigh: ton thtfcmg nhe v l hop phan mau xanh luc 572
Rayleigh: phtfcfng trinh pha tron de so mau 571.
 BANG III

B EN H VA HOI CHUfNG C O T R IE U
CHLTNG NHAN KHOA

I. LOAN PHAT XUONG SQ - MAT VA HQI CHlfNG

CUNG TH lf NHAT

(C5n tra cufu them bang I, phan 1 ve trieu chufng

cua hoc m^t)

- Apert: tat dau hinh thdp - dinh ng6n 16

- Bertolotti: loan phat xuong so - mat 61
- Crouzon: loan phat xtfong so - mat 158
- Franceschetti - Zwahlen: loan phat xucfng ham - mat 238

- Franceschetti - Goldenhar: loan san m^t - tai 238

- Francois (J) - Haustrate: loan phat tai - xuong ham
dtfdi 238
- Gansslen: loan xUOng so - loan mau 257

- Gruber: loan xuong dau c6 u nang noi tang 292

- Hallermann - Streiff - Francois (J): hoi chufng loan
xtfcrng dau - dau chim 306
- Holtenmuller - Wiedermann: so hinh 3 la, hoi churng
da di dang 338

31
Laffer - Ascher: se mi - moi kep va btfdu co 412
»
Pierre Robin: ham dtfdi be vk lui ra sau - thut ltfdi;
nurt man hau - vom m ieng 586.
Pyle: loan san xUcfng so - h&nh xUOng 567
Scheutauer - Pierre Marie v& Sainton: loan ph£t xi/ong
ddn - so 554
Ullrich - Feichtiger: loan xuang so 704

2. BEN H CH U YEN HOA

Bassen - Komzweig: thieu b§ta - lipoprotein trong m£u 42

Burger - Griitz: t&ng lipid huyet vo cSn 114

Burnett: roi loan chuyen hoa calci 115

Farber: u hat md toa lan 210
Foiling: chufng tri don tam than phenyl - pyruvic 231

Gaucher: benh tich lipid (xerebrosit) 262

Gierke (Von): roi loan chuyen hoa glycogen 268

Goppert: galactose huyet 277

Hand - Schuller - Christian: b enh u vang 308

Hurler va Morquio: benh m ucopolysaccarit - loan dtfdng
mff - sun va da loan dirong 346

Landing: benh u: gangliosit 414

Lignac - Fanconi: roi loan chuyen hoa acid amin 436

Lowe: hoi chufng mat - nao - than 445

N iemann - Pick: loan dudng md (sphingomyelin) 508

Pompe: b enh tich glycogen tan man 558

- Tangier: khong co alpha - lipoprotein 678
- Toni (De) -Debre - Fanconi: hoi chufng benh ong than 692
- Tay - Sachs: cac chtfng ngu - mu 680
- Urbach - Wiethe: benh tich lipoprotein 709
- W estphal - Strumpell: roi loan chuyen hoa dong 751
- Wilson: roi loan chuyen hoa dong 758

3. BENH HE THAN KINH VA CO

a) LOAN SAN - HOI CHl^NG HO DUONG TIEP

(Dysplasies - Syndromes dysraphiques)

- Arnold - Chiari: di dang nao sau 20

- Krause: loan san nao - m^t 406
- Menkes: ton thtfcfng cac hien b§ va mat nao 471
- Morsier (de) loan san v£ch - thi gidc 494
- Passow: roi loan tao dtfdng dan (status dysraphicus) 536
- Romberg: teo ntfa mat 592

b) H 0 I CHlJNG TON THlJONG THAN KINH

. Ton thuong d cao: so, dtfdi vo nao, nen so

- Bonnet (P) - Bonnet (I): hoi chtfng 16 rach trtfdc 89
- Charcot - Moebius: dau ntfa dau do mdt 129
- Dejerine - Roussy: hoi chtfng doi nao 177

- Denny - Brown: hQi chtfng thi gidc - bo thdp 179

- Espildora - Luque: hoi chtfng m£t - khe Sylvius 203

- Foix: hQi chtfng vach ngo&i xoang hang 228

33
 - Garcin ton thtfong cac day thin kinh so do ton thtfong
d nen so 258
- Godtfredsen: ton thtfcfng xoang hang \k dfiy than
kinh XII 272
- Gradenigo: ton thtfong mom xtftfng dk 279
- Jacob: hoi chufng nga ttf d£ - btfdm 362
- Pierre Marie - Leri: hoi chtfng sau the thuy tinh 553
- Raeder: hQi chtfng can dfiy th in kinh sinh ba 570
- Rochon - Duvigneaud: hoi chtfng khe btfdm 589
- Rollet: hQi chtfng dinh hoc m it 590
- Tilling - Wernicke: liet van nhan gia nhan 690
- Tolosa - Hunt: liet van nhan dau nhtfc 691
- Villaret: khoang sau tuyen mang tai sau 715
- West: hoi chtfng dang dong kinh 749
. Ton thiCong a cu nao sinh tu va cu o n g nao
- Benedikt: hoi chtfng giao ben cuong nao 57
- Claude: hoi chtfng dtfdri cua nhan do III va nhan do 138
- Foville: hoi chtfng Foville tren 234
- Marie - Guillain: ton thtfcfng tren cua nhan do 455
- Nothnagel: hoi chtfng cuong nao (nhan do - cuong tieu
nao tren va III) 512
- Parinaud: liet nhin dtfng 531
- Weber: hoi chtfng giao ben cuong nao (III va ton thtfang
dtfdng dai van dong va cam giac) 735
. Ton thiicmg cau nao
- Brault - Vincent: the lam sang cua lift nhin ngang 100

34
- Bri ssaud: co cufng mot ben mat va liet ntfa ngtfdi giao
ben 103
- Foville: cac hoi chufng Foville (liet nhin ngang) 234
- Gasperini: hoi chufng chom cau nao 261
- Jayle - Ourgaud: the lam sang liet nhin ngang 368
- Millard - Gubler: ton thtfcfng day t h in kinh VII-VI va
dtfdng dai 478
- Oppenheim: the lam sang l i f t nhin ngang 519
- Raymond - Cestan: hoi chufng chom cau nao 573
. Ton thuang hanh nao
- Avellis: hQi chtfng giao ben hanh nao 22
- Babinski - Nageotte: ton thtfcfng phan tren hanh nao
(soi giao cam) 29
- Cestan - Chenais: ton thtfcfng nhan Id md va thdp
hdnh nao 124
- Foix - Hillemand: ho' ben hanh nao 229
- Jackson: ton thtfcfng c&c day than kinh so cuoi cung 359
- Wallenberg: ton thtfong phan sau va ben hanh nao 733

. Tuy - rl day than kinh song

- Brown - Sequard: ton thtfcfng mQt ben tuy 108

- Dejerine - Klumpke: lift rl dam roi than kinh canh

tay 176

c) THOAI H 6 A DI TRUYEN: LIET - MAT DIEU

HOA XO - CLfNG

Viem chdt trdng nao

35
 - Aplers: thoai hoa chat nao xdm 9
- Bar: mat dieu hoa - gian phinh mao mach 34
- Batten: mat dieu hoa tieu nao b§m sinh 43
- Bogaert (Van): viem chS't tr^ng nao tan man 85
- Creutzfeld - Jacob: gia xa cufng v6 nao 155
- Fisher: liet m£t - mat dilu h6a - mat phan xa 222
- Friedreich: thodi hoa tieu nao di truyen 246
- Greenfield: loan dudng chat tr£ng nao gia dinh 285

- Hallgren: diec - mat dieu hoa - viem vong mac sic \£ 307
- Krabbe: xa cufng nao tan man d tr£ em 404
- Little: xa cufng nao a tre em 439

- Marinesco - Sjogren: due the thuy tinh bam sinh - tam

than tri don va mat dieu hoa 458

- Pelizaeus - Merzbacher: loan dudng chat tr&ng nao gia

dinh 542

- Pierre Marie: mat dieu hoa tieu nao di truyen 552

- Refsum: benh di truyen mat dieu hoa dang viem da

day than kinh 578

- Sanger - Brown: mat dieu hoa di truyen 613

- Schilder - Foix: viem nao quanh true toa lan 623

- Scholz: xa cufng nao toa lan d ngtfdi tre 628

- Sjogren: due the thuy tinh bam sinh va tam than tri
don 644

- Strumpell - Lorrain: liet 2 chi dtfdi co cufng gia dinh 671

- Westphal - Strumpell: gia xa cufng 751

36
- Wilson thoai hod gan - nhan dau 758

d) BEN H CUA CO

- Charcot - Marie - Tooth: teo co than kinh 130

- Erb - Goldflam: nhuoc co 202
- Steinert: loan dudng co luc 660
- Thomsen: 688
- Unverricht - Lafora: chufng co rung co gia dinh 708

e) BENH NH IEM KHUAN VA LINH TINH

- Bayle: bai liet toan than do giang mai 46

- Bell: liet m&t 55
- Charcot: tam chufng Charcot 128
- Dejerine - Sottas: viem d§y thdn kinh ke phi dai 178
- Devic: viem tuy - thi th£n kinh 182
- Gelineau: con ngu thodng qua - mfi't truong ltfc 265
- Guillain - Barrd: viem nhieu rl thdn kinh 296
- Heidenhain: thoai hda nao 318
- Heine - Medin: viem tuy x£m trudc cfi'p tinh 319
- Landry: liet l§n cua th&n nao 415
- Parkinson v& Von Economo: hpi chtfng khia 533
- Pick: teo vo nao c6 gidi han vo c&n 548
- Recklinghausen: u xa th in kinh (b$nh th in kinh) 575
- Wernicke: viem nao xdm xuS't huyet 747

37
 4. BENH 0 DA VA HI$N BQ

a) DI DANG SAC TO: NOVI, G lAN MAO MACH

U MACH

- Bar: mat dieu hoa, gian mao mach 34

- Bloch - Sulzberger: incontinentia pigmenti 81
- Cavka: benh h£c to' toa lan d mpt b§n 122
- Fabry: angiokeratoma corporis diffusum 205
- Klippel - Trenaunay: ncrvi tinh mach phi dai 392

- Nieden: gian mao mach v& due the thuy tinh 507
- Ota: ncrvi m&t - h&m 524

- Spitz: u hdc to da a ngtfdi tre 656

b) BENH NHIEM KHUAN, NOI BAN BONG, BENH

NGOAI Bi TROT

- Behcet: viem mang bo dao tai phat co mu tien phong 51

- Bockart: impetigo 83

- Carol: ttftfng tu vdi hoi chiing Behcet 121

- Cazenave: benh pemphigut tr6c to^n than 123
- Duhring - Brock: viem da dang hecpet 190

- Fiessinger - Rendu: benh ngoai bi trcft nhieu cho 221

- Hebra: benh ban do da dang co bong m/dc 316

- Kaposi: noi ban dang thuy dau 379
- Lortat - Jacob: bf nh da co bong nhay dinh v& teo niem
mac 444

- Lyell: benh bong bieu bi bong 446

38
- Stevens - Johnson: noi ban, viem mieng va viem mat 662
- Wilson - Brocq: benh do da tr6c vay 760

c) CHLfNG D A Y SlJNG - BENH V AY CA

- Darier: churng loan sdng nang 167

- Hanhart: churng day sirng gan ban tay, ban chan va

ton thifong da di dang 309.

- Rud: benh vay ca bam sinh va tam than tri dpn 602

- Savin: benh vay ca, loan dirdng gidc mac va bieu hien
di urng 616

- Sjogren-Larsson: chiing vay cd bam sinh, tam thin

tri don, lift hai ben co thdt 646

- Spannlang - Tappeiner: tin g strng hda gan ban tay -

ban chan \k rung t6c, ldng 654

- Schafer: loan sifng va due the thuy tinh b£m sinh 618
* •
- Wiskott - Aldrich: eczema, hfi chiing xuat huydt va
nhiim khuan 761

d) BENH TAN G SAN VA TAN SINH

- Bowen: u bieu mo 97

- Brooke: u 105
- Dercum: benh u md can xiing 180

- Kaposi: u mach t§ bao quanh mao mach 378

- N onne- Milroy - Meige: phu dinh dirdng man tinh 509

- Touraine - Solente - Gole: chiing day da - mang xirong 694

- Weber - Christian: benh vi§m md md dirdi da c6 not 738

39
 d) VO SINH - TEO

- Bogaert (Van) - Divry: hoi chiing thin kinh - da 86

- Christ - Siemens: b#nh da loan san gi£m ti§'t mo hoi

ngoai bi 135

- Rothmund: benh da bien dang vk due the thuy tinh

bam sinh 599

- Werner: benh ciing bi v& due the thuy tinh bim sinh 599

- Werner: benh ciing bi v& due thi thuy tinh bam sinh 745

e) BENH COLAGEN VA BENH THAN KINH - DA

- Bonnet (P) - Dechaume va Blanc: phinh mach roi cr

vong mac va da 90

- Bourneville: benh xa hoa cu 96

- Kussmaul: benh viem quanh dong mach co cuc 411

- Libman - Sacks: the lam sang cua benh luput do - phu

tang 435

- Recklinghausen: benh u xa than kinh 575

- Sturge - Weber - Krabbe: u mach nao - than kinh sinh

ba 672

g) TON THUONG MO d An HOI v A c A c HOI

CHLfNG KHAC

- Bosch: hoi chufng da di dang co bieu hien or da 93

- Colomb: gia seo hinh sao ttf ph&t 149

- Degos: hoi chiing da - npi tang 173

- Dupuytren: co rut can gan tay 192

40
- Ehlers - Danlos: loan sail xd t&ng dan hoi 196
- Groenblad - Strandberg: van mach vong mac va gia u
vang dan hoi Darier 288
- Menkes: ton thtfcfng hien bo va mat nao 471
- Rosenthal - Kloepfer: cutis verticis gyrata v& loan san
giac mac 596

- Sabouraud: hoi chtfng ton thtfcrng hien bo 604

5. HQI CHLfNG MAT - TAI

- Alport: benh than - diec 10

- Alstrom: hoi chtfng da di dang 11
- Amalric - Diallinas: die'c va thodi h6a ho&ng diem 13

- Apert: dau hinh thap - dinh ng6n 16

- Cockayne: liin - diec - viem vong mac sic to 142

- Cogan: viem gidc mac v& ton thtfcfng oc - tien dinh 143
- Franceschetti - Zwahlen: loan phdt xtfcfng h&m - mat 238
- Graefe (Von) - Lindenov: hQi chtfng da di dang 282

- Hallgren: diec - mat dieu h6a - viem vong mac sic to 307
- Harada: hQi chtfng mkng bo dko - m&ng nao 311
- Klein: diec va tap hop da di dang 389
- Lobstein: diec va cung mac xanh 440
- Mende: diec - bach tang 469

- Refsum: benh di truyln mat dieu hda dang nhieu day

than kinh 578

- Smith - Patau: hoi chtfng da di dang 649

41
Usher: diec va thodi h6a vong mac 711
Vogt - Koyanaghi: viem m&ng b6 d&o - raang nao 717
Waardenburg - Klein: didc - di sic mong m it - lac cho
diem le 728
Wildervanck: hoi chufng m it - co - tai 756

6. BENH MAU

Alder - Reilly: di dang bach ciu 7

Biermer: thieu m5u Ac tinh tuin tiS'n 73
Brill - Symers: bf nh hach bach huyet c6 t£ b&o khong
lo 102
Chediak - Higashi: hoi chiing huyet hoc gia dinh 132
Cooley: chufng huyet cau to di thudng F82
Fanconi: thieu mdu v& hoi chiing da di dang 207
Gunther: benh roi loan chuyen h6a porphyrin bim
sinh 300
Herrick: thieu m£u co te bao hinh liem 326
Hodgkin: benh lympho hat Ac tinh 334
Kahler: benh da u tuy xiiong 377
Letterer - Siwe: benh he ludi tan man Ac tinh 433
Minkowsky - Chauffard: vang da tan huyet gia dinh a
tre so sinh 481
Plummer - Vinson: thieu mau do thieu chat s it 557
Schonlein - Henoch: ban xuat huyet dang thaip khdp 629
Vaquez: t&ng hong cau vo c&n 713
Waldenstrom: loan protein huyet 732
 7. BEN H XUONG VA KHClP

a> BENH XLfONG

- Albers Schonberg: benh xtfcfng hoa thach 5

- Bartenwerfer: loan phat xircfng noi sun 40
- Blegvad - Haxthausen: benh lao xtfcfng khong hoan
chinh 78

- Caffey: chufng day chat d&c xtfdng tre em 119

- Camurati - Engelman: loan san than xircfng tu4n tien 120

- Conradi - Hiinermann: benh voi hoa cham dau xircfng 150

- Leri: loan dtfdng xtfcfng b£m sinh 431

- Lobstein: xtfcfng de gay - di£c v& cung mac xanh 440

- Morgagni - Morel: d&y d&c xtfcfng trdn ben trong 491

- Paget: viem xtfcfng bien dang 526

- Pyle: loan san xtfcfng so - h&nh xtfcfng 567

- Oilier: loan sinh sun 517

- Rocher - Sheldon: chtfng loan sdn xtfcfng - cd 588

b) B ?N H d KHtfP

- Barre - Lieou: hpi chtfng cd 39

- Charcot: viem da khdp man tinh dang thap khdp 127

- Felly: thap khdp cd 16ch to 219

- Hilding: hpi chtfng ho d6o - sun - khdp 329

- Klippel - Fey: dinh dot xtfdng cd 391

- Still: viem da khdp d tre em 663

43
Strumpell - Marie (P) - Bechterew: viem ciing khdp
song 669

8. BENH TIM MACH

Buerger: viem tic dong mach 112

Ebstein: di dang van ba 15 194

Fallot: tii chiing 206
Feer - Swift: benh dau c5c diu chi 214
Horton: viem dong mach th5i di/cmg 341

Jaccoud - Osier: viem m5ng trong tim nhiem khuan 358

Kussmaul: viem quanh dong m ach co cuc 411
Marfan: tat chi dai va hep 454
Raynaud: roi loan van mach 574
Rendu - Osier: u mach xuat huyet gia dinh 583
Takayashu: benh "ngvfdi vo mach" 677

9. BEN H N0I T IE T VA DINH Dl/(3NG

Argonz del Castillo: chiing dau kinh - tiet nhieu siifa 17

Babinski - Frohlich: hoi chiing phi sinh due 28

Barlow: benh thieu vitamin C a tre em 36

Bonnevie - Ullrich - Turner: loan san tuyen sinh due 91

Cushing: beo phi - cao huyet 5p - ram long 161

Graves - Basedow: ciidng tuyen gidp 284

Kimmelstiel - Wilson: thoai h6a kinh 6ng thSn do dai

thao dudng 385
- Klinefelter: hoi chufng giam nang tuyen sinh due 390
- Lorain: nhi tinh do tuyen yen 442
- Mauriac: the lam sang dai thao a ngtfdi tre 463
- P ellizi: sinh due tao phat 543
- Plummer - Vinson: viem thtfc quan do thieu chat sat 557
- Simmonds: suy mdn tuyen yen 640
- Uyemura: hoi chufng thieu vitamin A 712

10. BQ TIEU HOA

- Banti: ldch to va t&ng huyet dp tinh mach ctfa 93

- Degos: hoi chtfng da - noi tang 173
- Devic - Bussy - Gardner: benh polip trtfc - ket trang
va u trung bi d nhieu ncfi 183
- Hirschprung: chtfng to v& dai ruQt ket 333
- Peutz - Touraine - Jeghers: sic to d nhieu ch6 v& polip
ruot 545
- Wilson: bfnh tho&i h6a gan - nhan d§u 758

11. BEN H CU A BQ H 6 HAP VA PHOI

- Kartagener: gian phe quin, viem xtfcfng hang - sing (ethm-

oi do - antrite) va dao Ion phu tang (situs inversus) 380
- Pancoast - Tobias: hoi chtfng dinh phoi 528
- Wegener: benh u hat 741

12. BEN H 6 THAN

- Albright: tAng calci nif u 6

45
 - Alport: benh than va diec 10
- Lowe, hoi chufng mat - nao - than 445
- Potter: vo sinh than 562
- Toni (de) - Debre - Fanconi: benh on g than 692
- Wilms: u than 757

13. BENH NHIEM KHUAN VA KY SINH VAT

- Besnier - Boeck - Schaumann: ben h ltfdi noi mo 62

- Borna: viem nao 92

- Brill: sot rickettsia phdt ban 101
- Chagas: benh trypanosoma 126
- Darling: benh nam histoplasm a 169
- Gerlier: chong mat liet (vertige paralysant) 266

- Gregg: benh phoi do rubeon 286

- Hansen: benh hui 310
- Nicolas - Favre: benh lym pho hat ben ban cap 505
- Reiter: hoi chufng k et m ac - nieu quan hoat dich 582
- Robles: benh giun onchocerca volvulus 587
- Weil: benh xoan khuan vang da chay mau 742

14. C A C HOI; CHLfNG

j
DA Dj DANG KH A C: SAI LA C
TH E NHIEM S A C (aberrations chrom osom iques)

- Ellis - Creveld (Van): loan san sun ngoai bi 198

- Freeman - Sheldon: loan dtfdng so - co tay - co chan 244

- Gilford - Hutchinson: churng liin gia (progeria) 271

46
- Krause: loan san nao - mat 406
- Langdon Down: benh Mongolisme 416
- Lange: hoi chufng da di dang 418
- Laurent (Colette): khuyet doan the nhiem sac (deletion
ch rom osom iq u e) 421
- Lejeune: benh "tieng meo keu" (cri du chat i 429
- Meyer - Schwickerath: hoi chufng da di dang 475
- Patau: chufng 3 the nhiem sfic 17 - 18 537
- Rubinstein - Taybi: hoi chtfng da di dang 601
- Silvermann: hoi chtfng "tre em bi danh dap 639
- Smith - L em li - Opitz: hoi chtfng da di dang 648
- Smith - Patau: 3 the nhiem s i c D 649
- Weyers - Thier: hoi chtfng m^t - m i t - cot song 752

47
 A
1. A B D E R H A L D E N

(Xem hoi churng LIGNAC - FANCONI)

2. A D A IR - D IG H TO N

(Xem bfnh LOBSTEIN)

3. A D A M A N T IA D E S

(Xem hoi chiing BEHCET)

4. A D IE (Hoi chiing)

Adie (1932) xac dinh hoi chiing nay vdi nhufng bieu hien
a dong tuf ma thoat trong giong nhir dau hieu Argyll -
Robertson, nhtfng thuc ra co nhufng dac diem cua m ot dong
tuf cifdng luc" (pupille myotonique), thiiang phoi hop vdi
m at phan xa cac gan.
Day la m ot chiing ben h b iet lap thiiang thay xuat hien
cr phu nuf tre (3/4 cac tri/Ong hap).
- C ac t r if u chu’n g d d o n g tuf nhii sau:
+ Dong tuf gian: 2 dong tii khong can xiing va thay doi
trong ngay.
+ Phan xa quang van be ngoai nhii bi mat. Nhufng neu
chieu sdng dot ngot va manh thi thay d6ng tii co cham va
tCr tCr theo kieu ciidng luc.

48
 + Khi mat quy tu thi dong tiif co cuTng vdi dac diem la
khdi co muon, co chain va gian cang cham han (hoi chiing
SA EN G E R ).

+ Lam thur nghiem dtfcfc lire bang nho thuoc thay phan
ufng d on g tiif khong binh thuang, tham chi thucfng la qua
manh.

Co the phoi hop phu them nhtfng dau hieu ve roi loan
dieu tiet, thiTc sir la co that dieu tiet, bat buoc benh nhan
khi luan chuyen nhin xa va nhin gan phai mat m ot thdi
gian chinh ly.

- M a t cac phan xtfcfng gan (gia Tabet), la trieu

chufng kinh dien, duoc Adie neu len va thuc su la cua rieng
hoi churng nay. Thong thirdng chi m it cac phan xa gan g6t
chan, doi khi chi mat d mot ben ; phan xa bdnh ch6 it bi
hern. O chi tren, cac phan xa gan ba dau d i bi giam hoac
mat.

Hoi churng nay da duoc xic minh ro, nhtfng ve nguon

goc thi chtfa ro. Tien trien lanh tinh va khong c6 xu htfdng
toa lan. Can phSn biet duft khodt vdi diu hieu Argyll -
Robertson, vi n6 khac ca ve dac diem lam sang cung nhu
ve nguon go'c.

5. A L B E R S SC H O N B E R G (Benh)

Benh Albers schOnberg (1904) con goi la benh "xUdng

cSm th a c h " (os de marbre) hoac xtfdng hoa thach
(ostfop^trose); xUdng nen so v i than cdc xUdng d ii di bi
xam lan. B f nh cd d&c di£m la xUdng bi bien dang, d i gay
vi xUdng bd, xUdng ham bi viem tuy hoai tuf. Co the bi

49
thieu mau nang, tiem tien va khong lam duoc tuy do (xiiong
r4n mot cach bat binh thtfdng); thieu mau kieu giam s&c.
- Chup X quang bo xircfng va xUcfng so cho thay xUOng
bi dong dac rat dac biet, md dam va deu.

- Trieu churng a mat chu yeu Id teo thi th in kinh do

hep ong thi va di dang hoc m it; trdi lai, hiem thay lift
van nhan cung nhtf loi mdt.

- Nguon goc cua benh c6n phai xdc dinh them. Bfnh
nang, nhe hodn toan If thuoc vdo tuoi xuat hifn benh;

. The bf nh d tre em, xuat hifn sdm, d in den tur vong.

. Cdc the benh xuat hien muon hon ti/cfng hop duoc vcri
cuoc song va thinh thoang lai bi gay xtfcfng tai di tai lai
nhieu lan,* dau trong xUcfng; teo thi th4n kinh khong tien
trien ntfa ma dtfng lai.

Tinh chat di truyen cua benh da dtfdc xdc lap: chu yeu
la di truyen troi. Can li/u y la b f n h co the chan doan khi
con trong ttf cung (in utero) b ang X quang.

6. A L B R IG H T (Hoi chtfng)

Hoi chtfng Albright la sir roi loan cua chtfc nang than
ve hap thu calci, tao ra tinh trang thtfc sif tang calci trong
mau tir phat d ngirdi da truang thanh (chtfng giam nang
tuyen can giap gia).

Thirdng co soi nifu. Co the thay nhtfng dau hieu cua

tang co giat (Spasmophilie). C6 nhtfng tai lieu noi ve due
the thuy tinh xuat hifn ttfdng doi muon, kieu noi tiet,
tirong tir nhu due the thuy tinh do giim calci mau trong
chtfng thieu tuyen can giap.

50
 7. A L D E R - R EILLY (Dj dang)

La mot di dang bam sinh va di truyen trong the chat

cua bach cau do mot bien doi ly - hoa cua cau true. Day
la nhtfng hat ldn tfa lam anilin (azurophile) che lap nhan
cua bach cdu va dtfdc truyen lai theo kieu lep autosom
(Alder - Reilly, 1938 - 1950).

Ngtfdi ta da thay di dang nay phoi hap vdi chufng da

loan dtfdng (gargoi lism e) va J.Francois da thay phoi hap
vdi teo vong quanh (atrophia gyrata) hac - vong mac d mot
benh nhan va vai ngtfdi trong gia dinh ho. Theo Duke -
Elder thi co the thay di dang nay trong benh Niemann -
Pick va trong cdc the bfnh cua chufng ngu - mu gia dinh
d ngtfdi tre.

8. ALD RIC H

(Xem WISKOTT - ALDRICH)

9. A L P E R S (Bfnh)

Thodi hod chat xam, mot dang cua chiing loan dtfdng
chd't trdng nao (leucodystrophie) d trf em; d6i khi c6 tinh
chd't gia dinh, sdm ddn den m ft hoi chtfng mu vo nao h&ng
dinh.

10. A L P O R T (Hoi chtfng)

Chtfng bfnh di truyen vd gia dinh pho'i hdp mot bfnh

than huyft nifu, mot chtfng diS'c bam sinh trung tfcfng vd
nhtfng di tdt b£m sinh cua the thuy tinh (Alport, 1927).

51
 - Ton thtfcfng than a nam gidi n&ng hon d nti gidi. bieu
hien bang mot viem than tieu cdu co huyet nieu, tru nieu
va albumin nieu.
Chi rieng benh nhan nam gidi mdi bi diec; diec tri giac
thuan tuy kieu bam sinh.
- Ton hai mat chi khu tru d the thuy tinh:
. Due the thuy tinh bam sinh (the bui, the vdng, the
due true trade, due dtfdi bao);
. The thuy tinh nhd, trdn;
. The thuy tinh hinh chdp trtfdc, sau
Co tai lieu noi ve nhtfng cho day giac mac doi dien vdi
nhufng di dang cua the thuy tinh cung nhu co rung giat
nhan ceiu . Hoi chufng dtfdc truyen lai theo kieu di truyen
troi autosom kinh dien.

11. A L ST R O M (Hoi churng)

Hoi chufng Alstrom (1959) phoi hop diec, beo phi, dai
thao dtfdng, tri cham tam than, lun va giam n&ng tuyen
sinh due. Thoai hoa sdc to vong mac gia nhap khung canh
hoi chufng nay khien ngUdi ta co the ban luan ve mdi gan
gui cua no vdi hoi chufng Laurence - Moon - Bardet - Biedl.

12. A L Z H E IM E R (Benh)

(Xem benh PICK)

13. A M A L R IC - D IA L L IN A S (Hoi chiing)

Ndm 1959 - 1960, Diallinas va Amalric cong bo hoi

chiing nay, thay d ngiidi cam - diec cd kha nang bi thoai
hoa ldp tapeto - vong mac, chu yeu la vung hoang diem.

52
Toil hai d trung tam vong mac theo kieu sdc to, muoi tieu
doi khi kha kin dao co dang nhiT the keo.
Sir phoi hap cam - diec va thoai hoa hoang diem nay
thuOng gap vdi m ot ty le khoang 7% cdc trtfdng hap.

Cac chirc n a n g thi gidc it bi ton hai (thi lire, thi trirdng),
dien vong m ac binh thudng; trdi lai, ngirai ta thay c6 ton
hai d dirdng ghi dien nao.

14. A M SL E R (Dau hieu)

(Xem hoi chufng FUCHS)

15. A N D O G S K Y (Hoi chiing)

Hoi churng Andogsky (1914) tdp hop cdc loai due the
thuy tinh benh ly (due the thuy tinh thuoc tang di tfng)
gdp trong vi§m bi th in kinh rdi rdc vd bfnh eczema. Due
the thuy tinh thtfcfng xuat hifn muon, nhieu ndm sau ckc
trifu chtfng d da; mdi ddu Id nhtfng ch6 due 16'm dom or
dtfdi bao trtfdc vd bao sau; d6i khi c6 nhtfng cho due ddm
han, c6 ve deu dan, la nhtfng chtfng due th€ thuy tinh hinh
khien moc (cataracte en bouclier) xudt hifn d bao trtfdc
the thuy tinh. Dau cho mdi ddu hinh dang nhtf the ndo,
edc chd md due d6u cd th i tien trien thdnh due the thuy
tinh trdng todn bo vd ddt thdnh vdn de phdi md lay the
thuy tinh d ngtfdi con tre.

16. A P E R T (Hoi chtfng)

H fi chtfng Apert (1906) dtfdc ddc trtfng bdng tat dau

hinh thap dinh ngdn (acrocephalo - syndactylie). Chtfng
loan xtfcfng so ndy khd gan gui vdi bfnh Crouzon, va co

53
ve nhu la khong nhat thiet phai di truyin, m§c diu nd cd
the truyln lai theo kieu troi hoac theo ki£u ldp autosom
- Di dang xUdng so gom c6 tat dau hinh thdp d phia
trade (so co hinh the qua trdng), dinh so thadng d trade
thdp trade. Dudng khdp trdn - thdi daong dong sdm.

- Khuon mat ndi ehung thadng r<?ng vd bet, d in den

nhang thay doi chieu sau cua hoc m it, tao ra m<>t I6i m it
gia; khoang cdch gitfa 2 m it kha xa; 2 khe mi phia trong
xech len (obliquite antimongolo Yde).

- Dinh ngon la mot trong nhfirng diu hieu chinh cua hoi
chdng Apert (2 hoac 4 ngon tay hoac ngdn chan hdp chat
vao nhau, cac m ong cung the). Ngon cai thadng ta do, tao
dang ban tay hinh cui dia

- Tat diec va cam thadng co, cung nha suy nhaoc ve

mat tam than.

- ChUc n&ng thi giac thadng bi roi loan vi teo thi thin
kinh; ngudi ta co ndi den due the thuy tinh, gidc mac to
va rung giat nhan cau.

Di dang cua mi cd the d in tdi Ion bd mi va hd mi.

Sau cung, cin ndi tdi mot hoi chdng duoc Waardenburg
va Vogt mo ta ma trieu chdng la trung gian gitfa hoi chUng
Apert va benh Crouzon, trong do neu len tat khoang cach
2 mat qua xa va benh glocom bam sinh.

17. A R G O N Z D E L C A ST IL L O (Hoi chdng)

Thay d phu nuf tre trong thdi ky hoat dong sinh due
\
gdm trieu chdng dau kinh roi mat kinh va chiy stfa. Hoat
do prolactin cua huyet trUcmg len cao. Neu nhOng trifu

54
chufng tren day ti/ong ufng vdi m ot u tuyen yen thi co the
dan den nhufng bieu hien thj gidc giao thoa va thj than
kinh (Pruvost).

18. A R G Y L L - R O B E R T SO N (Dau hieu)

Chung toi khong can phai noi nhieu ve dau hieu nay
ma ndm 1868, lan dau tien da duoc Douglas Argyll -
Robertson mo ta dudri cai ten "co dong tuf tuy song" (myosis
spinal). Sir ndi danh cua trieu chufng nay da khien ngtfdi
ta phai coi no nhu mot nhan to trong moi cuoc kham xet
hoan chinh vd trieu chufng benh hoc.

Dau hieu Argyll - Robertson la ddc trtfng cua benh giang

mai th in kinh, chu yeu nhat Id benh Tabet. Tuy nhien do
mof rong khdi niem, ngtfdi ta c6 the thiy n6 trong nhufng
chufng benh th in kinh khdc nhu kho'i u d vung cu nao sinh
ttf sau, benh xa ctfng r ii rdc, cdc ton thtfcfng sau sang
chan,v.v...

O day, chung toi nhic lai r it n gin gon cac trieu chtfng
cua dong tuf ma theo nguyen tic Id c6 d cd 2 m it:
- M it dcfn dOc phan xa quang v§n (phdn xa trtfc ti§'p
vd phdn xa ddng cam);
- C6n phan xa ddng tuf trong diiu ti^t - quy tu;

- Co dong tuf;
- 2 ddng tuf khong can xtfng nhau;

- Ddng tuf meo lech.

C6 nhtfng hinh the khdc dien hinh vd hodn chinh, trong
d6 m it phan xa quang van vd co ddng tuf c6 the Id chinh
yeu cua trieu chtfng hoc.

55
 19. AR LT (Dirdng)
La mot vat seo d ket mac mi tren cua ngtfdi bi dau mfit
hot, song song vdi bd ttf do ciia mi, ndm d 1/3 gitfa ket
mac sun. Dtfdng ranh chay theo chieu ddi, nhin, vo mach,
cd mau hoi tring.

20. A R N O L D - C H IA R I (Hoi chdng hodc di dang)

Di dang Arnold (1894) vd Chiari (1891) Id m ft di dang

rat hiem thay cua nao sau, the hifn bin g stf kdo ddi lac
chd cua tieu nao va than nao vdo phdn tren cua ong song.
Di dang nay cd xu htfdng 1dm tic nghen sir lou thong cua
dich nao - tuy gitfa nao th it 4 vdi b ! ddy; d i ddng phtfi
hop vdi tat ntft dot song (spina bifida).
Co the xay ra tran dich nao ben trong, d in tdi cac dau
hieu than kinh vd th in kinh - mdt, hoi chtfng tieu nao,
rung giat nhan cau theo chieu dtfng, tdng dp lire noi so,
song thi do liet van nhan. Doi khi nhtfng trif u chtfng ndy
chi xuat h ifn rd't muon d tutfi trtfdng thdnh vd cin xur ly
phdu thuat th in kinh.

21. ASCHER
(Xem h$i chtfng LAFFER - ASCHER)

22. A V E L L IS (Hoi chtfng)

Hoi chtfng xen ke thuoc hanh tuy ddc trtfng bdi:

- L ift ntfa ngtfOi cheo, phoi hop vdi:
- L ift th in g man hiu vd day thanh,

- Co the k&m theo cac trifu chtfng ndy m ft hQi chtfng

Claude Bernard - Horner.

56
 23. A XE N FELD

(Xem viem ket mac MORAX - AXENFELD)

24. AXE N FE LD

(Benh viem ket mac)

V iem ket m ac man tinh kieu hot, tien trien dai dang
nhung lanh tinh (Axenfeld, 1907).
Day la mot tinh trang tho£i hoa hot, chu yeu d cung do
ket mac, khong gay phan ilng hach va ton thiTcfng giac mac.
Tac nhan gay benh co ve la vi khuan, mac dau chua
thay c6 bin g chiing cu the nao. Ve phi/ong dien giai phiu
benh hoc, cau true cua hot khong c6 gi dac bift.
Ngtfdi tre d i bi benh viem ket mac nay.

25. A X E N F E L D (Hpi chiing)

Di dang nky - cdn goi la v6ng due phoi sau gidc mac
(embryotoxon post^rieur) - tiicfng ling vdi mQt sg phdt trien
khong binh thifdng d giai doan phoi cua m6 trung bi cua
tiln ph6ng (Axenfeld, 1920).
Sir ket thuc cua vong Schwalbe doi khi cd the tao ra
mot v&nh trdn d mat sau giac mac, ngay vung ria, md due
va ldi vao tiin phong (v6ng sau gidc mac Graves, loan san
d chu bien sau giac mac).
Di dang nay, hoan to&n cd the khdm xet diroc bing den
khe, gap vdi ty If tuf 10 den 15% d cdc miic dp khac nhau
nhu mQt vong cung den mQt vdng 360°. Doi khi di truyen.
Vdng ph6i sau cd th i don dfc hoac cd the phoi hop vdi
nhffng di dang khde d gdc, die bif t la d gdc mong - giac

57
mac ma ta can phat hien bang soi g6c ti4n phong va soi
sinh hien vi phin trtfdc nhan cau.
- co the c6 glocom bam sinh;
- c6 nhufng dai ching (brides) d day ching ltfde tao ra
nhtfng dai dinh bic cau phia trtfdc goc va noi lien phin trtfdc
mong m it vdi vbng phoi sau giac mac (di dang Axenfeld);
- di dang dong tuf (dong tuf lac chd, nhieu dong tii).
- phi dai ca co th it mong m it;
- lat bd dong tii;
- dam md due bam sinh giac mac, due the thuy tinh
bam sinh, the thuy tinh lac cho.

26. A X E N FE LD V A S C H U R E N B E R G (Hien ttfong)

Hien ttfong Axenfeld va Schurenberg (1901) dtftJc ngtfdi

ta biet nhieu han vdi ten goi la hien ttfong co chu ky bam
sinh cua day t h i n kinh van nhan chung (day III).
Hien ttfong rat hiem gap va rat ky la vdi dac diem la liet
toan bo day III va thay the vao do la nhtfng pha tang htfng
phan, nhtfng con co giat trong pham vi hoat dong cua day
t h i n kinh van nhan chung. Cho nen tiep theo sau mot pha
liet toan bo la mot pha tang htfng phan cua day III.
- co rut a mi sup;

- nhan ciu ldc vao trong;

- co th it dieu tiet.
Sinh benh hoc chria bifft ro. H ifn ttfong tdi diin theo
chu ky ttf 10 d£n 30 gi&y vk khong ngtfng trong suot ca
cu q c ddi. Tinh c h it h im sinh cua h ifn tiffing chu ky day
th in kinh III da diffic chtfng minh nhieu lin .

58
 B
27. B A A D E R

(Xem hoi chu-ng F IESSIN G ER - RENDU)

28. B A B IN SK I - FR O H LIC H (Hoi churng)

Hoi chiing phi - sinh due duoc nhieu nguOi biet. N3m
1900, gan nhu dong thdi duoc Babinski mo ta trUdc, sau
dd la Frohlich. Thay d tre em vk ngUdi ldn.
Trong the benh don thu&n, d&c diem lfim s&ng 1& chiing
b£o phi phoi hop vdi roi loan sinh due.
- B6o phi theo dinh khu d&c biet, m&t tr6n nhu mSt
trSng, dui, vung khung chau.
- Roi loan sinh due, den tuoi dSy thi tao ra nhi tinh
sinh due khd ro.
- Cd the phoi hop vdi ckc trieu chiing khde thuoc nhdm
tuyen yen vk trung nao nhu ddi thdo dudng, d£i thdo nhat,
lun v& benh to cue (acrom^galie).
- V l mat nguyen nhfin, cd nhieu khd n&ng do:
. Nguon goc gia dinh v& di truyen;
. Nguon goc hau phat do kho'i u ngiu nhien (u tuyen ky
mau, u so - h&u, u cr nao th&'t 3).
Do vay xufit hifn cdc dfiu hifu d milt c6 lien quan vdi
u d vung ho y§n, h$i chiing giao thoa vdi b£n manh hai
th&i duong va teo dSy th in kinh thi gi6c.

59
 Sau cung, cln ltfu y den nhufng moi lien quan ve mat
trieu chufng hoc gitfa hoi chufng nky vdfi hQi chufng Laurence
- Moon - Bardet - Biedl ma trong hoi chufng sau thtfOng c6
them viem vong mac sic to va dac biet la nhufng t6n thtfong
d ng6n tay.

29. B A B IN S K I - N AG E O TT E (H$i chihig)

LA m0t hQi chtfng hanh nao diln hinh, cftn nguyen

thtfdng la do mach mdu, bdi mQt ttfn thtfcmg d phdn tren
hanh nao, dac bift la tin thtfong d cAc trung tam giao
elm.
Gom cdc trieu chtfng sau day:
- L ift nhe ntfa ngtfcfi ch6o;
- Mat cam giac ntfa than ch6o, kieu mat cam giac nong
lanh (type thermo - analg^sique);
- Trieu chtfng ntfa than tieu nao thin g (direct) (mat
dieu hoa ntfa than - mat dong van ntfa than);
- L ift th in g day IX vdi roi loan nuot, mat cam giac
mot ntfa hau;
- Cuoi cung la hoi chtfng dong ttf (Claude Bernard -
Homer) th in g vdi lom m it, hep khe mi va co dong ttf do
ton thuong cac trung tam giao cam cua chom hanh nao

30. B A IL L IA R T (Chi so vong mac - the dich)

Chi so' vong mac -*th! dich Bailliart xac dinh moi ttfong
quan ttf nhien gitfa ty If huyft ap m it vdi ty If huyft ap
chung. Ttfong quan d thi tam trtfcmg la 0,45 va thi tam thu
la 0,54 vdi mQt stf xe dich ± 10 mmHg dffi vdi tam tn/ong
va nhieu hon doi vdi tam thu:

60
 PAR (tam trtfcfng) = 0,45
PAR (tain thu) = 0,54
T ren thuc te, ngtfOi ta chi suf dung chi so vong mac -
the dich a thi tam trtfcfng. Thtfong ngtfdi ta thich dung chi
so g i n s£t dung hon: PAR (tam trtfong, do b l n g gam) =
0,50 PAH (tam trtfong do b l n g mmHg).

31. B A L IN T (Hoi chiing)

Hoi chtfng Balint (1909) ttfong tfng vdi stf mat dieu hoa
thi gidc (ataxie optique) ttfc la stf bat binh thtfdng cua van
d o n g nhan c lu vdi dac d ie m la:
- Te liet tam than stf nhin, khong the dtfa m it nhin ve
mot diem nha't dinh trong khi vSn nhan v in binh thtfdng.
- Khong the thtfc hi$n dung d in ckc dpng tkc ddi hoi
c6 stf gidm s6t cua m it;
- Giam stf chu ^ nhin (attention visuelle). Chi nhtfng
hinh Inh cua ho&ng diem mdi tdi dtfcfc tan tri thtfc, c6n
nhtfng hinh anh chu bien vong mac thi chi c6 the nhan
thtfc dtfoc blng stf co' g ln g manh me cua y chi.
Theo Saraux vk cong stf thi hQi chtfng m it dilu hda van
nhan n£y cd the ttfong tfng vdi nhtfng tdn thtfong nao, chu
yeu 16 ckc hoi nao tr&n - dinh; ckc hdi nao chlm thi gi6c
vk vung vSn ddng theo y mud'n c6 le khong phli 16 nguyen
nhSn.

32. B A L L E T (D lu hieu)

Ballet (1888) mo t l dlu hi£u n&y, thay cd trong loi m it

tuyen gidp. N6 ttfong tfng vdi li^t vSn nhSn d mpt co ho&c
t i t c l ckc ca (li#t to&n bo v§n nhan, l6i m it cd liet van

61
nhan Ballet). Ngay nay ngtfdi ta goi la viem co mat trong
benh Basedow.

33. B A N T I (Benh hoSc hoi churng)

Benh hoac hoi chufng nay rat quen biet trong benh hoc
noi khoa, co dac diem la: mdi dau lach stfng to, thtfdng rfi't
to vdi chay mau da day - ruot, tiep theo 16 xudt hi#n cdc
trieu chufng xd gan vdi tang huyet dp tinh mach ctfa.

Tassman neu len cAc ton hai cua mdt lien quan vdi chufng
thieu mau va cdc roi loan cua th i chat mdu: phu gai, gian
tinh mach vong mac, xuat huylt vd dich ri d ddy m it.

34. B A R (Hoi chdng)

NSm 1941, ba Denise Louis Bar cd mo ta mot thtfc the

giai phdu - lam sang d tre em, phoi hdp vdi stf mat dieu
hoa tieu nao sdm va tudn tien la nhtfng gian mao mach
can xtfng. Hoi chtfng c6n dtfdc goi la mat di§u hoa cd gian
mao mach (Ataxie telangiectasique).

Benh thtfdng cd tinh chat gia dinh va dtfdc truyen theo

kieu lep. Hoi chtfng con dtfdc goi la mat dieu h6a cd gian
mao mach (ataxie telangiectasique).

Benh thtfdng cd tinh chat gia dinh va dtfoc truyen theo

kieu lep autosom. Hoi chtfng khdi phat ngay ttf nam dau
cua ddi va tien trien din.

Trieu chtfng hoc nhtf sau:

- Cac roi loan tieu nao:

. M at dieu hda tieu nao, doi khi khdng di dtfoc.

62
 Dong tac mua vdn ngoai y muon, chufng sai lam
(dysmetrie), run ray va ctfdng cd.
- Gian mao m ach , thirdng la nhufng mao mach cua ket
mac, nhin ro a ket m ac nhan cau. Co the gian mao mach
d da, d mi, d tai, cd, m an h§u va mat sau cua cac chi.
- R oi loan van n h an , cham t ri hoac te liet cac dong
tac nhin ngang va nhin dufng, cd the cd rung giat nhan
cau.
Ve nguyen nhan sinh benh, khong cd gia thuyet nao
lam sang to dtfoc moi lien he gitfa hoi chufng tieu nao, cac
gian mao mach m it - da va cac roi loan ve van nhan.
Khong the xep hQi chufng ndy vko h$ c6 hQi chufng thin
kinh - da (phakomatose) vi thieu nhOfng di dang mach mdu
d he than kinh trung tfcfng.

35. B A R D E T (Xem hoi chiing)

(LAURENCE - MOON - BARDET - BIEDL)

36. B A R L O W (Benh)

Thieu vitamin C d tre em, ngay tii n&m 1 tuoi, gay chay
mdu dtfdi da tan man, tu mdu vk tdn hai xtfcfng.
Trieu chiing d m it giong nhii trong benh tfa chay mdu:
tu mdu d mi vk xufi't huyet dtfdi k§'t mac. Doi khi tu mdu
trong hoc m it gay loi m it d§t ngQt, cd the din den mu
lod vk d6i hoi phai xtf tri khin cip.

37. B AR R E

(Xem h§i chtfng GUILLAIN - BARRE)

63
 38. BARRE - BARTCH
(Xem hoi chufng BARRE - LIEOU)

39. B AR R E - LIEO U (Hoi chiifng)

Hoi chiing giao cam co sau (Barre - Lieou) gom churng

dau dau d vung cham vdi nhtfng con kich phdt, dau d cd
hodc mat, chdng mdt, u tai. B6i khi c6 di c&m d mdt
(paresthesie faciale), kho chiu d hong, met mdi tdm th£n
va the xdc.

Trieu chtfng d mdt khd da dang. Doi khi cd rung gi#t

nhe nhan diu, dau sdu trong mdt, kem theo so dnh sdng,
dom dom mdt. Neu chi cd cdc trieu chtfng d mdt thi hoi
chtfng Barrd - Lieou trd thanh hoi chtfng Barrd - Bartchi
va cdn phai tim kiem mot cdch c6 he thong benh htf khdp
cd (arthrose cervicale) la thu pham gay ra nhtfng chtfng
benh da dang noi tren.

Hoi chtfng nay de dang dtfoc xem nhtf bao hieu cho mot
thieu ndng tuan hoan thuoc pham vi dong mach cot song
va chiu anh htfdng cua nhieu yeu to khdc nhau (htf khOp
cd, anh htfdng than kinh nhay cam).

40. B A R T E N W E R F E R (Hoi chtfng)

Loan san nhieu dau xtfong. La mot tap chtfng nhieu di

dang gom co: lun, sai khdp hang bam sinh, di dang dot
sdng.

Trieu chtfng d mdt gom co: 2 mdt xa nhau qud, khe mi

xech ngtfoc phia trong va nep quat gdc trong mi (epican-
thus).

64
 41. BASEDOW
(Xem benh GRAVES - BASEDOW)

42. B A S SE N v A KOR NZW EIG iUoi chung)

Con diTcfc goi la benh thoai hoa tapeto - vong mac vdi
chufng hong cau gai (acanthocytose) va chiing phan md
(steatorrhee). Hoi chdng nay la sU thieu bam sinh cac chat
beta - lipoprotein trong mau La mot benh chuyen hoa cua
tre em, di tru y ln theo kieu lep autosom (Bassen va Korn-
zweig, 1950).

Hoi chdng g o m cac yeu to nhd sau:

- Mat dieu hoa tieu nao kieu Friedreich vdi triet tieu
cdc phan xa, cd the tri don tam thdn;

- Mot benh ia chdy md cd non mtfa, ph&n md, mat dinh

dudng, cham phdt tri£n t&m thin;

- ChUng hong cau gai, hdng cau cd khia va khong dlu

cd the din den thieu mau kieu tan huyet;

- Thoai hoa tapeto - vong mac trong do s&c to sip xep

thudng la khong dien hinh, cd kha n&ng 16m giam sut thi
luc v& ton hai di§n vong mac ky. NgUdi ta cd neu len dang
viem vong mac cham bien bach (retinite ponctuee albescente).

43. B ATTE N

(Mat dieu hoa tieu nao bam sinh)

La mot hoi chUng tUdng ttf nhu chtfng mat dieu hoa tieu
nao di truyin kieu Friedreich. Stf mat dilu hoa bieu hien
rat sdm ngay ttf khi dtfa tre mdi chap chtfng biet di va roi

65
se tien trien tii tU den mat dieu hoa tieu nao toan bo Teo
thi than kinh cd duac neu len.

44. B ATTE N

(Xem HOLTHOUSE - BATTEN)

45. B A TTE N - M A YO U (Benh)

Nen nhap v6o trong khung canh nhufng chufng ngu - mu

d tre em bi benh Batten - Mayou (ngtfdi Anh, 1903 - 1904)
vk benh Spielmeyer - Vogt - Stock (ngtfdi Dtfc, 1905 - 1908).
Nghien ctfu v l mo - giai phau benh hoc da cho thay ro tinh
chit chung cua hoi chtfng tre em ndy vdri hinh thdi tre em
trong benh Tay - Sachs, tufc la stf thoai hoa md cua te bao
hach trong he than kinh trung uang vd cua von g mac. Hinh
nhu su tham md gom cd m ot hon hap gangliosit sph in ­
gomyelin va xerebrosit. Cung can phai nhd rang doi khi
su hon hap nav cd kem theo ca di dang Alder (xem ten
nay).

Trieu chtfng benh xuat hien a tre ttf 5 den 10 tuoi.

Khong thay cd yeu to chung toe. Di truyen theo kieu lep.

- Trieu chtfng d m i t la thoai hoa tapeto - von g mac

trong do rat hiem khi thay cd cham "do anh dao" hoang
diem. T hong thudng la thoai hoa kieu hoang diem 'thoai
hoa nao - hoang diem Batten - Mayou), cd s i c to nho tung
cue hoac dang muoi tieu' giong nhu moi thoai hoa hoang
diem khong cd ton thuang he than kinh trung uang Ye
sau, cd teo thi t h i n kinh vdi teo noi mo s i c to von g mac
va s i c to phan tan ron g han. Cd the cd ton hai dien vong
mac ky. The benh Spielm eyer - Vogt cd dac diem 16 t6n

66
i hucfng vong mac laii rong hcfn (thoai hoa chu bien nao - vong
mac). Dau cho trieu chufng co khac nhau chut it, cuoi cung
van bi mu m ot cach tu tU sau vai ba nSm benh khdi phat.

- Ton thuong he than kinh trung UOng gay ra churng liet

co cUng a cac chi, benh nhan budc tUng budc nho, co giat
va huy hoai tam tri, dan den ngu muoi.

- T ien trien chSc chan den tiif vong sau nl* eu nam, trong
m ot benh canh lam sang: mu, mat tri, va liet khong day
dtfcJc. The benh muon a ngucri ldn cua hoi chUng nay la
benh KUFS (xem ben h nay).

46. B A YLE (Benh)

Benh Bayle (1822) la b^nh cd dien viem mang nao -

nao do giang mai tda lan, rat quen thupc vdi cdi ten goi
la bai li§ t toan than.

Dac bi# t chu yeu cua tri#u churng la roi loan tam thin ,
mat tri nhd va d iin dat, hoang ttfdng tu dai (d^lire m£galo
- maniaque), mat y thtic tu nhan x6t minh, mat cdm quan
v i tinh thtfcfng va dao l^.v.v... phdi hop th§m cdc rdi loan
ve vdn dQng, ndi run, rung riy. Bidn ddi dich nao - tuy,
phdn ting Wassermann dtfcrng tinh d mdu vd dich nao -
tuy, tieu sti giang mai cho ph6p chin dodn ra benh.

Thudng cd cdc tri^u chting d ddng tti: 2 ddng tuf khong

cdn ddi, gidn ddng tti mot ben va luan phien, bd ddng tti
bien dang. Dau hi#u Argyll - Robertson c6 tti 30 den 50%
so trtfdng hop; it gd p hon trong b#nh Tabet.

Li§t v^n nhan, nha't Id li$t phdn ly day III cung hiem
gdp, viem thi thdn kinh c6 teo gai cung vdy.

67
 47. B E A L (Viem ke't mac)

Nam 1905, Beal va Morax co mo ta mot benh viem ket

mac co hot, cap tinh, hay thiy a ngudi ldn; 6 ngudi tre it
thay hon.
- Khdi phat khd ram ro, mdi diu mot m it, sau v6i ba
ngky lan sang m it thtf hai.
- Dau hi§u co nflng giong nhtf trong moi viSm k it mac
cap, c6 cdm gidc cdm cin , chdy ntfdc mdt.
- Kham thay tiet rtf ra khong nhieu, phu n l mi kin ddo,
cd k£m theo hach trUdc tai. Ket mac ctfong tu, d nhan ciu
cung nhtr d mi.
Tuy vay khong chay mau, khong phu ne. Soi sinh hien
vi thay hot be Ian tan d ket mac sun va cung do. X um le
va nep gap ban nguyet cung co nhufng hot nho vuang len.
Trong mot so trtfdng hap, co the thay trieu chung toan
than cua trang thai cum: sot nhe, viem n h i l m mui hong,
dau minh may.

Viem ket mac co hot cap kieu Beal tien trien thuan loi
trong vong 2 - 3 tuan, khong gay bien chUng gi d giAc mac.
Cho den nay v in khong xac dinh duoc mot tac nhan
gay benh nao. H ien nay, dua tren tinh chat doi khi thanh
dich va cong thtfc mau tang lympho dan nhan, nguai ta
dua ra gia thuyet nguon goc virus.

48. B E A U V IE U X (Benh)

Con dugc goi la benh muon myelin hoa thi than kinh
hoac gia teo thi th in kinh d tre so sinh; gay hoi chtfng
mu d tre con r it it tuoi.

68
 Cham myelin hoa gai thi lam cho dia gai co mau xam
sat. doi khi den xi. Phan xa quang van cd the rat yeu hoac
mat. Dura tre co bo dang cua mot ngtfdi mil, dd dan va
nhan cau rung giat. Day mat binh thudng. Dien vong mac
ky cung binh thtfdng

Tien trien trong nhieu thang thtfdng la thuan ldi; song

song vdi vi|c myelin hoa gai thj, thj ltfc tang tien Chan
do&n kho la d dang sinh ly cua gai thi ma lam cho ta nghl
tdi mot teo gai thtfc. Chi cd stf tien trien cua benh mdi
cho ph£p ta dtft khoat vi tien ltfOng la m ot van de dang
lo ngai va luon luon kho khan.

49. B E C H T E R E W (Phan xa)

Ph£n xa o'c tai - mi m it Bechterew xdy ra d tre em r it

it tuoi bdi mQt kich dong vang d$i 16m cho tre khong nhtfng
phai nhim co ctfng m it lai m& c6n phin tfng co ctfng toan
than v6 cac chi.

Cung phan xa khdi phat ttf co quan Corti di qua day

thin kinh VIII o'c tai, tan cung d nhan ben hanh nao va
di tdi day th in kinh mat qua stf trung gian cua dai doc
sau. Nghien ctfu phan xa nay r it bo ich trong viec chin
doan diec cua tri it tudi.

50. B E C H T E R E W (Benh)

(Xem benh STRUMPELL - MARIE P VA BECHTEREW)

51. B E H C E T (Hoi chtfng)

Hoi chtfng m it da - niem mac, cdn goi la viem mang

bo dao tai phat CO mu tien phdng, thuoc nhdm benh ngoai

69
bi Id loi d nhieu lo (ectodermose erosive pluri - oriftcielle)
(Adamantiades, 1931 - Behcet, 1937).
Mac diu ngudi ta gia thiet la cd stf tham gia cua virut
vi^c chan dodn chu yeu vin 16 ve 16m sang. Tri^u churng
gom cd:
Viem mang bo dao tai phat c6 mu tien phong: 16
trieu chtfng chu dao, nhan to cin phai cd trong chin do6n
b<?nh; 16 mdt viem m6ng bo d6o lanh, 6m i, it phin tfng thi
mi. Mu tien phdng thudng kh6 kin d6o, dtfdi dang mdt ngin
nho d day tien phdng. Mu xuit hi|n nhanh v6 ti£u cung
nhanh. Dong thdi rat hay cd due dich kinh v6 trang th£i due
n6y cd the van ton tai gitfa cdc con kich phat. Mdi dau bj d
mot mat, nhung sau cd xu hudng lan ra ca 2 m it.
Cd apttf (aphte) niem mac, nhat 16 d niem mac mieng
(mdi dudi, dau ludi,v.v...). Niem mac bo phan sinh due cd
the bi (vung d6y chau - hau mon, am hQ, quy diu, ranh
quy dau - bao).
Ton thtfcfng ngoai da: it dac sic v6 da dang.
- Viem nang long nhdn da;
- Ttfng dot moc dinh nhot;

- Doi khi cd phdt ban mot cdch khd x6c dinh. Nhtfng
ton thuong nay hay d dau goi, cd tay.

Viem quanh tinh mach vong mac la mot trieu chung

quan trong v6 chung 16m cho thdnh cdc dong mach cung
nhu tinh mach trd nen day ctfng. Cac huyet khdi vong mac
(thromboses retiniennes) va xuit huyet dich kinh gop phin
lam cho m it mu ttf ttf. Luc bay gid di^n vong mac ky co
ton hai.

70
 N hieu ton thtfcfng khac d m at duoc neu ion nhu.
- V iem von g mac dich ri;

- Thodi hoa hoang diem;

- V iem thi than kinh dan den teo.

- Nhieu bieu hien da dang ngoai mj£t duoc mo ta nhtf

ve than kinh (viem nao), chay mau dudng tieu hoa, dau
khdp, v iem tuyen mang tai.

Benh tien trien lau dai, ng&t quang ttfng dot tai phat,
dieu tri vo hy vong. Tien luong mat rat xau.

B f n h C aro l cd ve gdn lien vdi benh Adamantiades

Behcet, nhimg thuc ra thi trif u churng d bfnh nay, chu yeu
la nhufng com viem mdng mdt kich phat kieu thanh dich,
c6 mu hoac khong. Bfnh d cd hai mdt va d phu ntf, tir ttf
di d in mu Ida. Lo6t Id niem mac mifng va d bp phdn sinh
due la kinh d iln trong h fi chtfng nay.

52. B E H R (teo thi thdn kinh)

The bfnh teo thi th in kinh ndy xdy ra d cd 2 mdt va

d tri em theo kiiu di truyln - gia dinh.
Cd t h i thdy nhtfng trifu chtfng phdi hop khde nhtf tang
phan xa gdn, phdn xa da gan bdn chdn, khi dudi mdt phdi
hdp van dfng, ndi cham hodc khong n6i dtfdc, tri chdm
tinh thdn. HQi chtfng ndy ndm trong khudn khd cdc benh
thodi hda di truyin gdn lien vdi bfnh Friedreich. Ngudi
ta cd d i cdp d in mdi gdn gui gitfa bfnh nay vdi benh Leber
(teo thi thdn kinh) vi thdy trong mQt gia dinh cd stf pho'i
hdp gitfa 2 bfnh ndy.

71
 53. BEHR (B§nh)
Benh Behr (1920) la mot benh thodi hoa hoang dilm
di truyen a ngudi ldn theo kieu tr§i. Cd th# xem benh n6y
nhu m ot the lam sang muon hon cua b#nh Stargardt.

54. B E H R (Hien tuong ddng ttf)

Hoi chUng nay duoc Behr mo td (1909 - 1912), 16 sU

khong can doi gitfa 2 dong ttf tao ra tinh trang gian ding
ttf or mot mtfc do n6o d6 d mat ctfng phia vdi b in manh
mot ben dong danh, ttfc 16 phia doi 16p vdi tin thtfong. O
mat gian dong ttf nhe, phan xa ddng ttf cung ch6m hon.

Nhan day cung can n6i tdi hien tuong d6ng ttf khi mdt
dua ra, duoc Behr mo ta v6 quan sdt thay trong mot so
trudng hop liet day VI do giang mai, co kem theo ctfng
dong ttf: khi mat co gang dua ve phia day than kinh liet
thi dong ttf co ctfng lai it nhieu (phan tfng nay trai nguoc
vdi hien tuong dong ttf Tournay).

55. BELL (Li<?t)

Ten goi dupe cac tac gia Anglo - Saxon (Dtfc) dat ra de
chi cdc chtfng liet day than kinh mat do vi£m, phu ne, khi
day than kinh nay chui qua lo tram - chum (Trou stylomas-
toidien). Chung toi khong muon nhan manh nhieu ve
nhtfng quan s6t benh sinh nay, nhung theo Duke - Elder
thi nhtfng the lam sang nay rat hay gap.

56. B E L L (C H A R L E S ) (Dau hipu)

Hoi chtfng nay moi ngudi deu biet, dupe Charles Bell
mo ta lan dau tien nam 1823.

72
 Binh thudng khi ta nham 2 mi mat lai thi mat theo
phan xa ttf nhien dtfa len cao va ra ngoai nhtf muon an
tron xuong dudi thanh xuang hoc mat. Phan xa nay a ca
2 mat, can doi va cang nham mat manh thi cang len cao.
No bieu hien su hap dong gitfa 2 day than kinh III va VII,
va chiu su chi huy cua cac trung tam vo nao va dudi vo nao.
Phan xa nhan cau len cao k hong bat buoc phai co d tat
ca moi nguai trong khi ngu, va trUdc 2 - 3 tuoi thi it thay.
Dau hieu Charles Bell thuc thu a the dan thuan, nam
trong trieu chtfng hoc cua liet day mat ngoai bien, co kern
theo hd mi. Cang co nham mi da bi liet thi nhan cau cang
dtfa len cao.
Trtfdng hdp liet stf nhin (paralysie du regard) ma c6 d£u
hieu Charles Bell thi chtfng td vfin c6 stf to&n ven cua
nhfin va dtfdng di ngoai Lien.
Ngudi ta c6 md td nhtfng bat binh thudng cua dfi’u hieu
Charles Bell nhu Charles Bell dua nhan diu xuong dudi,
dua ngang, hoac khong thay cd d mQt so ngudi.

57. B E N E D IK T (H0i chtfng)

Hoi chtfng giao ben cuong nao do tdn thuang chom cuong
nao d nhan dfiy III, nhan do va It nhiiu c6 xfim pham ddn
chan cuong nao (dudng van dong). Doi khi c6n goi la hoi chtfng
giao ben cua nhan do (Souques, Crouzon va I. Bertrand).

Trieu chtfng gom co:

- liet th&ng day van nhan chung (III);
- run r ly vd mua vdn ntfa than ch6o ben;

- li§t nhe ntfa ngtfdi cheo b§n.

73
 H<j>i chufng Claude hoac hoi chiing dudi cua nhan do
trong thtfc te co the nham vdi hoi chiing Benedikt nhtfng
a hoi chufng tren ton thtfong tieu nao noi bat hon
Hpi chufng Marie va Guillan la mot dang benh lv khac
vdi dac diem la ton thtfdng tren cua nhan do; dau hieu tieu
nao vdi rung giat nhan cau a phia doi ben va co kem theo
mat cam giac ntfa than kin dao cung a phia doi ben.

58. B EN SO N (Benh)

Viem dich kinh hinh sao hay benh Benson la mot benh
gia vdi dac diem la co n h iiu the chdi vcfi trong dich kinh
nhtf nhtfng dam bong tuyet, nhtfng hat tr6n, trSng, the
tich khac nhau. Nhtfng dam due nay co the xam chiem
toan bo o dich kinh hoac khu tru d m ot vung; trong thuy
dich cung thay co. C6 the d6 la nhtfng chat xa phong -
calci hdn la cholesterin.

Benh nay la mot the dang lam sang cua nhuyen lap
lanh dich kinh.

59. B E R G M E IS T E R (GAI THI)

CJ thang thtf ttf cua phoi, doan gai cua dong mach kinh
gian phinh ra va chiem phan p h lu cua cdc thtf s<Ji thi than
kinh. Chung quanh dong mach nay co m ot cai vo gom cac
te bao noi mo tao ra gai thi Bergmeister. Ttf ch6 gian
phinh gai cua d on g mach kinh se phat sinh ra nhtfng dong
mach von g mac.

D ang lam sang cua gai thi B ergm eister se thay khi ta
soi day m dt neu sau khi dtfa be ra ddi ma he th on g mach
mau kinh k h o n g tieu het va con ton tai nhtfng doan d on g

74
mach. Ta thay a mat dla gai thi, loi ra phia dich kinh,
m o t doan mach mau dai hoac ngdn, xung quanh co vo than
kinh dem (mang ngoai gai).

60. B E R L I N (Hoi chiing)

Berlin mo ta hoi chiing chan dong vong mac n&m 1873

vdi cdc dac diem dau hieu thi gidc vk ddy mdt.
- Ngay sau khi bi chan thtfcrng, ngtfcri bi thtfcfng thtfdng
ndi la giam thi ltfc nhieu, do dung dap vong mac a ctfc sau
nhan cau, nhin vat thay md, c6 cam giac £m diem trung
tam dtfcfng tinh. K ham day mdt thay phu ne trung tam
vong mac, cd mdu xdm nhat, trdng stfa d vung ctfc sau,
quanh gai vd hodng diem. Doi khi vong mac cd nhufng
dudng nep dong tdm xoay quanh dia gai. Giiifa ddm phu
ne dy, hodng di£m ndi bat mdu do nhat, goi Id cham "do
anh ddo". Phu n i vong mac doi khi lan den ca cdc mach
mdu dudi dang mQt vdng quing trdng nhat.

- Sau vdi ba gid hodc 1 - 2 ngdy, md mdt giam dan

trong khi dd thi phu n6 cUc sau cung bi£n mdt din. Thudng
Id khdi nhanh.
- Tuy nhidn cung c in lUu ^ khd ndng cd nhtfng tf>n
thucfng hodng dilm sau dung ddp vd do dd d l lai di churng
nghiem trong nhu mat thi ltfc trung tdm, nhin vdt thdy
bien dang, khd chiu khi doc. Soi ddy mdt thdy ctfc sau nhu
cd dudng ran, cd sdc to, ddi khi cd Id hodng diem gia sau
chdn thucmg.
- H0i chufng Berlin bid’ u hien mot stf ro'i loan dich ri
dudi vong mac cd lidn quan den tinh trang cdc dong mach
the mi bi to’n thucmg do co xdt d doan di qua cung mac.

75
 61. BERTOLOTTI (Hoi chufng)
M ot dang loan phat xuong so - mat c6 tac dong den
m it nhu loi m it, lac phan ky va ton thtfong thi than kinh.

62. B E SN IE R - B O EC K - S C H A U M A N N (Benh)

Benh thoai h6a vong mac - noi mo Besnier - Boeck -

Schaumann duoc rat nhieu ngtfdi bidt den, xay ra d ngudi
tre tuoi. Bieu hifn lam sang da dang, g6m c6 nhtfng trieu
chUng d mat rat phong phu. Ton thtfong m it co ty le thay
ddi tU 25 den 50% tuy theo tac gid, va xuat hien b it ky
benh d giai doan nao; cac trieu chufng cd the ton tai biet
lap lau dai. T it c i cdc md cua m it deu cd the bi nhtfng
ton thtfcfng thoai hoa sacoid (s a rc o id o s e ) nhung m ang bo
dao thudng bi nhat.
H ^i chufng H eerford t (1909) la bieu hien dac sic nhat
va goi y nhat: do la viem mang bo dao - tuyen mang tai
co sot nhe va liet mat.
- Viem mang bd dao d day la mot viem mong m it man
tinh d ca hai ben, cd u hat, ddi khi soi sinh hien vi thay
cd not. Dau hieu co nang kha kin dao. Cd Tyndal thuy
tinh, cd chat ket tua cua viem mang Descemet va co xu
the dinh mong m it - the thuy tinh.
- Viem tuyen mang tai kieu man tinh o ca hai ben.
Hiem thay cac dau hieu co nang bieu hien su khd mieng.
Tuyen mang tai cd the sung to nhung khong cd xu the lam
mu. Ddi khi tuyen nude m it cung sung.
- Liet mat ca hai ben, ben nang, ben nhe, kieu ngoai
bien. Ddi khi cac day th in kinh so khdc bi tdn thtfong (III
va v i).

76
 - Mot hoi chufng m ang nao - nao (choc ong song co phan
ufng mang nao) di kem nhufng trieu chufng tren vdi tinh
trang sot nhe.

H oi cluing H ecrford t nSm trong khung canh cac trieu

chufng khac cua benh B B S (nhu ldch to, benh hach ton
thtfong da, phoi,v.v..J.

Thoai hoa sacoid co the den mi va gay phan tfng a ket

mac va cung mac. Ngtfcfi ta cung co noi den nhtfng ton
thtfcfng hdc - vo n g m ac co viem quanh thanh tinh mach va
ton hai thi than kinh.

63. B E S T (Thodi hoa hoang diem)

Best (1905) co cong bo' 8 trtfdng hup thoai hoa hoang

diem d tre em trong cung mot gia dinh. Ngtfdi ta xem benh
Best 16 mot the benh bam sinh hoac or tre em (cho den 7
tuoi) cua benh Stargardt. Tinh chd't di truyen theo kieu
troi.

Soi day mdt thay c6 o thodi hoa hodng diem, tron, c6

ranh gidi ro rang, d ngay hoang didm hoac ben canh. C6
nhieu hinh anh de so sdnh, vl du nhtf n6i ddy Id mot cdi
dla mat trdi nhin qua stfcfng mu (Jess, 1938).

Trong nhtfng trtfcfng hop khdc, ton thtfcfng hoang diem

goi len mQt viem hdc - vong mac 1dm seo. Ngtfdi ta c6
thay mQt hinh anh ddy mdt rat gio'ng vdi dla noan hodng
hodng diem (disque vitelliforme de la macula); mot vdi tac
gia nhtf Duke - Elder, Braley (1966) nhdp ldn 2 dang benh
hodng diem bam sinh vd tre em ay vdo vdi nhau.

77
 64. B IC K E L

(Xem hoi chtfng LOWE)

65. B IE D L

(Xem hoi chtfng LAURENCE - MOON - BARDEL - BIEDL)

66. B IE L SC H O W S K Y (Dau hi£u hoac test)

Dau hi£u nay duoc x£c dinh ro trong lift co ch6o ldn.
Trade het ta yeu ciu b«?nh nhan phii dinh thi th in g phia
trtfdc, diu thing. Roi nghieng diu ve phia vai cung ben
vdi li^t co ch£o ldn. Cho nen trong tradng hop li?t co ch6o
ldn ben phai thi diu nghieng sang phii, m it liet se len
cao ro va song thi se rat ro. Neu nguoc lai, dau nghieng
sang trai, ttfc la ve phia vai doi lap vdi phia bi liet thi
m it khong len cao va song thi se giam hoac mat di.

Giai thich test nay bang sU co ctfng phan tfng cua co

thing tren phia m it liet, ma trong tradng hop nay tac
dung dua m it len cao cua no khong duoc can bang bdi co
cheo ldn bi liet ma luc binh thudng no co tac dung dua
m it xuong.

67. B IE L S C H O W S K Y (liet su nhin)

Dudi ten goi nay, Kestenbaum da biet lap ra mot the

lam sang dac biet ciia li^t chdc nang, trong do chi con lai
kha nang kiem soat tu dong phan xa co khdi diem tU me
dao.

Cho nen trong trUdng hop li§t cac d$ng tac dua m it
theo y muon, neu nghieng hoac xoay diu se gay ra mot
dong tac xoay m it nguoc lai va sU kien nay diln ra khong

78
can den nhtfng kha n3ng kiem sodt ttf dong phan xa khac
ma trong trtfdng h op nay co the bi triet tieu.
Gan day han, vdi mot quan niem khac, Orlowski va
cong stf va tach biet ra dtfdi cdi ten la hoi chiing B iel­
schow sky - L utz ■ Cogan de chi chung cac liet gian nhan
tparalysie internucleaires) (the trtfdc va the sau).

6 8 . B I E L S C H O W S K Y (H ien ttfong)

Hien ttfcfng Bielschowsky (1931) ndm trong khung canh

lam sang cua hoi chtfng lac an tren luan phien; che mat
nao thi mat ay len cao, trong khi neu md ca 2 mdt thi 2
m6t gan ngang bdng nhau. Hi§n ttfdng Bielschowsky la
mQt dang kham nghiem. N6u che mdt khong phai bang
mot tam che ma bang mi£ng kinh md d mdt ben nay thi
mdt ben kia se dtfa xuong thdp v&o khoang 10°, doi khi
chi sau mot chap thi mdt xuong thap se trd ve vi tri cu.

69. B IE L S C H O W S K Y (Lac)

Theo Kestenbaum, hinh thai 16c mang ten Bielschowsky

bieu hi<?n stf tang hoat cua ccf ch6o bd. Khi nhin phia trtfdc,
len tren hoac xuong dtfdi, 2 mdt khong phan ly; nhtfng khi
nhin ngang, mdt nko dtfa vao trong (phia mui) se len cao
hern mdt kia dtfa ra ngoai (phia thai dtftfng); che mdt dtfa
ra ngoai nay se lam cho mdt kia trd ve can bdng, dong
thdi mdt che dtfa xuong, do tra ve cua 2 mdt bang nhau.

Hi#n ttfdng m d t lac len tren va ra ngoai trong dong tac

m dt nhin ngang cd the d cd 2 m dt; doi khi cd gay ra song
thi va mQt ttf the l?ch dau veo cd.

79
 70. BIELSCHOWSKY
(Xem benh J A N SK Y - B IE L S C H O W S K Y 1

71. B IE L SC H O W S K Y - LUTZ - C O G A N

(Xem liet stf nhin BIELSCH OW SKY )

72. B IE M O N D (Hoi chiing)

Duoc Biemond mo ta nSm 1934, hoi chiing na y nhii la

m ot bien the cua hoi chiing Laurence - M oon - Bardet -
Biedl. No phoi hop m ot viem vong mac s6c to c6 chiing
nhi tinh do tuyen yen vdi m o t tat khuyet m o n g m 6t, tat
thi/a ngon va thieu nang tam than.

Hoi chufng nay gan vdi hoi chiing dtfcrc Sorsby mo ta

n3m 1935 (xem ten hoi chiing nay).

73. B IE R M E R (Benh)

Benh thieu mau ac tinh hoac benh B ierm er (1872) la

do thieu vitamin B12. Benh tao ra m ot trieu chiing h oc ve
mat tiiong ling vdi hai co che:

1. Thieu mau ndi rien g vdi cac trieu chiing kinh dien
cua von g m ac dac hieu cho viem von g m ac do thieu mau:
vong mac tai, trong, tinh m ach tai nhot, hoi gian. va nhat
la nhieu dam xuat huyet o day mat.

2 . Ton hai than kinh hoac hoi chiing than kinh - thieu
mau tao ra m ot thoai hoa phoi hop cua tuy sdng. Thtfong
ngiidi ta hay mo ta cac viem thi t h i n kinh c6 gai thi bac
mau, thi ltfc giam, va n hat la 6m didm trung tam. Trieu
chiing m4t doi khi la bieu hien dau tien cua thieu mau

80
Ngtfdi ta co neu len cac liet van nhan, rung giat nhan cau'
va hoi chtfng Claude Bernard - Horner.
Phu ne mi - ket mac, ha nhan ap va due the thuy tinh
benh ly la giai doan cuoi cung cua tinh trang suy mon do
thieu mau.

74. B IE T T I

(Loan dtfdng giac mac cd not kieu that ltfng)

Mot loai loan dtfdng giac mac dai bang dtfgc Bietti va
cong stf mo ta nam 1955. The benh giac mac ky la nay
thay d nhtfng "ntfdc nhiet ddi khd can ". Soi kinh hien vi
thay nhtfng not tr6ng - vang nhat, due Id dd, lam cho giac
mac cd ve 1dm chdm go ghe, trtf d vung ria.
Ve phtfdng dien mo b$nh hoc thi day 16 nhtfng dao nho
tho6i hoa kinh d c6c ldp nong gi6c mac co ton thtfdng
mang Bowman vk dtft doan ldp nhu mo.
Stf loan dtfdng gi6c mac n6y d ngay vung hd khe mi cho
phep nghl tdi vai tr6 tham gia cua cua ckc vi chan thtfdng
do khi hSu va thdi tiet.

75. BIETTI
(Loan dtfdng tinh th£ chu bien gi6c mac)
N6m 1937, Bietti mo t£ cd 2 anh em bi loan dtfdng vung
chu bien giac mac d cac ldp nong cua nhu mo vung ria.
C6c cho md due giac mac cd dang lam cham va lap lanh.
Cd phoi hop mot thoai hda tapeto - vong mac kieu cham
bien bach (type ponctu6 albescent). N&m 1965, Bagolini
dtfa tren nhtfng quan s6t mdi, nhan manh tinh chat dQC
dao v6 gia dinh cua hoi chtfng n6y.

81
 76. BITOT (Chdm)
Dtfdi cai ten nay (Bitot, 1863), ngtfdi ta noi den nhtfng dam
kho khu tru d ket mac nhan cau bieu hien bang nhtfng chain
di san ket mac (metaplasie conjonctivale) mdu x6m nhat hoSc
trang nhat. Cham Bitot thtfcrng d khong cach xa ria bao nhieu;
nhilu hay it, no bieu lo mot stf suy giam vitamin A.

77. B JE R R U M (Am di£m)

Am diem hinh cung Bjerrum 16 mpt trong nhtfng ton

thtfdng d6c trtfng nh6t cua thi trtfdng b§nh nhan glocom.
Dtfdc cu th£ h6a d6c bi<?t b6ng ky thuSt do 6m d ilm m6t
bang, am diem Bjerrum chiem vung can trung tam cua thi
trtfdng,. va co hinh dang sao choi ma d4u sao che lap diem
mil Mariotte va thtfdng ch6i ra d phia ctfc tren cua diem
mu nay; sau do, am diem uon cong lai theo hinh cung, lorn
ve phia diem dinh thi. Duoi sao choi phinh rong ra vh
ngtfng lai d kinh tuyen ngang ve phia mui cua diem dinh
thi. Am diem Bjerrum n6m gitfa nhtfng vong 10° va 30°,
chieu rong thtfdng thay doi, trung binh ttf 4° den 5°. Doi
khi am diem d phia dtfdi, bat dau ttf ctfc dtfdi cua diem mu
Mariotte. Hai am diem Bjerrum tren va dtfdi nhap vao
nhau tao ra mot am diem hinh vong khuyen.

Phan nho ra ve phia mui Ronne la ph6n so le d cho

noi tiep ciia 2 am diem Bjerrum hinh ban khuyen. No bieu
hien tinh trang khong can bang nhau cua thi giac gitfa
ntfa tren va ntfa dtfdi cua thi trtfdng ve phia mui. C6c ky
thuat kham nghiem hien nay v i thi trtfdng cho ph£p phat
hien sdm (do thi trtfdng tinh) nhtfng suy gi6m bo (deficits
fasciculaires) d thdi ky dau cua 6m diem Bjerrum.

82
 78. B L E G V A D - H AX TH A U SE N

(Xem benh LOBSTEIN)

79. B LE SSIG (U nang)

Dudi cai ten goi u nang Blessig (1885) hoac phu nang
vong mac (Iwanoff, 1865), ta nen hieu do la su thoai hoa
u nang chu bien vong mac. Di dang vong mac nay rat hay
g^p, thdy c6 trong nhufng ton hai can thi, nhung cung co
d ngudi tre khong bi can thi, va do vay ma no cd tinh bam
sinh vd gia dinh.

Soi ddy m6t thay thoai hoa u nang hay khu tru d vung
thdi duong, dudi dang mot td'm voan d trUdc vong mac, due
Id Id nhu sura, 16m tfim nhe, di tif ora serrata den vung
xich dao. Soi sinh hi£n vi ddy m6t d6i khi thdy nhUng hoc
thtfc stf 16 nhtfng 16 d trong vong mac cd kha ndng tao ra
nhtfng dom ddm m6t.

Nhufng u nang ndy phdt trien trong cdc ldp vong mac
roi ben ngodi. Ddi khi cdc u nang ket dinh lai vd cd the
d in den tinh trang tdch ldp trong vong mac thtfc stf, luc
d6 ngudi ta goi Id tdch ldp vong mac. Nguon goc cua thodi
hda u nang cdn Id vfi'n di dang bdn cai.

80. BLOCH i4 SIEMENS

(Xem h6i chdng BLOCH - SULZBERGER)

81. B L O C H - SU L Z B E R G E R (H$i chdng)

Benh incontinentia pigmenti hay Id benh da s6c t6' vet

da duoc Bloch (1925) vd Sulzberger (1928) nghien ctfu day
du.

83
 Cac benh ky di nay, m& ntf gidi thudng hay m ic, mang
tinh di truyen va gia dinh. Trieu chting xay ra 0 tre rat
thcf au, khoang vai ba thang va hiu nhu ngoai le 6 tre 1
tuoi.

Sac to' d da, sau giai doan len ban do nguyen phrit thi
bieu lo dudi dang nhUng ch im s ic to' tung to£ ra k h ip
ngUc, mang sUdn v6 bung. Ve sau cd the giam bdt.

- Doi khi phoi hop mot benh canh da di dang nhu khong
cd rang, dinh ngdn va ton thUOng d m it (hdi chiing Bloch
- Siemens).

- Ton thucmg m it c<5 trong 1/4 cAc trudng hop: rung giit,
nhan cau, lac, viem gai thi, teo thi than kinh. Thay co cac
dang gia gliom va due the thuy tinh bam sinh.

- Naegeli mo ta mot hoi chUng rat garr gui vdi hoi chUng
nay, gdm co nhiifng ton hai sic to giong nhu the, nhurng dj
dang d rang, nhung benh canh da di dang thi it gap hon;
ngtia xay ra vi giam tiit mo hoi. Tre em nam nuf deu bi.

82. B LO D I

(Xem REESE - BLODI)

83. B O C K H A R T (Impetigo)
Duoc Bockhart mo ta nam 1887, impetigo nay xay ra d
ngudi ldn. Su lay lan nhilm khuan chu yeu la d da dau,
tai cac gdc toe. Doi khi ton thUOng impetigo tao ra nhung
quan tu mun mu thuc sU. Cd the lan den vung long may,
mi m it, cd ca viem nong bd mi.

84
 84. BOECK
(Xem benh BESNIER - BOECK - S CH AU M AN N )

85. BO O A ER T (VAN ) (Benh)

T on thtfcfng he than kinh trung tfcfng bieu hien bang

viem chat trang nao toa lan tien trien theo kieu cap d tre
em. T eo thi than kinh nhanh chong dan den mu loa vdi
liet van nhan.

B enh G reen field (1933) la m ot the benh cua chufng

loan dtfdng chat, trfing nao di truyen - gia dinh goi la di
sic, bdi vi ve phuong dien mo benh hoc, cac te bao than
kinh dem va mo b6o b it mau do nhat vdi chat nhuom
xanh bazic, va b it mau nau vdi cresyl - tim axetic. Nhu
vay thi day 16 chtfng loan dtfdng md sulfatit, vi thay cd
xerebrosit sulfatit trong h§ th in kinh trung tfong.

Cogan thay cd chat lin g c&n di sic trong te b6o hach

vong mac va nhtfng o viem h lc - vong mac sic to d chu
bien ho&c tai hoang diem (Dellaert, Otradovec).

86. B O G A E R T (VAN ) - D IV R Y (Hoi chtfng)

Dtfdi ttf ngtf n6y ta nen hidu d ly 16 mdt b§nh u mach

(angiomatose) tda lan cua vd nao v6 m6ng nao, d in d£n
nhtfng roi loan nghiem trong ve van nhan, dong kinh v6
mat tri. Cd the thay ton thucmg da kieu da bien dang. Hoi
chtfng th in kinh - da nay ddi khi cd tinh di truyentheo
kieu lep. Cd neu len nhtfng ton thtfong cua thi trtfdng, ban
manh. Nhtf vay thi hoi chtfng n6y g in gui vdi hoi chtfng
Rothmund v6 c6c u mach - th in kinh - m it.

85
 87. B O G A E R T (VAN ) - N Y S S E N

(Xem benh PELIZAEUS - MERZBACHER;

88. B O G O R A D (H<?i chufng)

Duoc biet thong thudng hon duOi c6i t£n hpi chUng "nude
m6t ca sau", b#nh n6y co dac diem 16 tang tiet nude m it
v6 tSng tiet nude bpt phan xa. NgUdi ta th6y cd nhung
dong dong mi m6t (syncinesies palpebrales) trai nghich.
NhUng con chay nude m6t khdi phat tir phan xa vi gi6c.
Su phan bo' than kinh sai lac ndi lien tiet nude m6t vdi
tiet nude bot cd the giam bdt b6ng c6ch c6t day than kinh
da nong to (nerf grand petreux superficiel).

89. B O N N E T (P.) V A BO N N ET (I.) (Hoi chtfng)

Hoi chtfng 16 rach trudc Paul va Ilinca Bonnet (1953)

hoac hoi chUng phan sau o hang (loge caverneuse) Jeffer­
son, chu yeu gap trong cac phinh dong mach canh trong
noi so.

Hoi chtfng gom co:

- Li<jt toan bp d ay than kinh sin h ba, d6u hieu chinh

va dac trung la mat cam giac giac mac, giam cam giac
vung day than kinh mat, mat cam giac vung day than kinh
ham tren va ham dudi vdi liet cac co nhai. - Liet day VI
sdm va co dinh. Phu them cd ton thuong day III, IV, day
da nong to (chay nude mat) va day giao cam quanh cd (dau
hieu ddng ttf). Xem hoi chtfng canh day sinh ba Raeder
(syndrome paratrig^minal de Raeder).

86
 90. BONN ET (P) - DE CHAUM E VA BLANC
(Hoi chufng)

Hoi chufng nay dufac cac tac gia co ten tren day chuyen
tain nghien cufu (1937). ttfcmg tfng vdi mot phinh mach roi
cua von g mac phoi hop vdi mot phinh mach da bi mat va
m ot phinh mach roi cua nao.

Tinh trang mach mau nay (phinh dong - tinh mach)

nfim trong khuon kho cac u mach than kinh - mat va benh
d ca 2 mat.

Soi day mdt thay d on g mach va tinh mach ngoSn ngoeo

nhieu. Mach mau co ve dam va gian them. Khong khac
nhau may gitfa dong mach va tinh mach, ca hai nhtf tiep
khau vao nhau. Hinh anh d iy mdt nay c6 the toa lan hoic
chi khu tru d trong mpt vung cua vong mac.

• Cung phia va trong pham vi cua d iy sinh ba cd dam

phinh mach roi cua mat, trdng giong nhtf mQt bo giun dtfdi
da bi.

- Nhtfng di dang mach d nao biiu hi#n mot phinh mach

roi trong so co the" gay ra nhtfng ton thtfcmg v i van dong,
li£t ntfa ngtfdi phia doi dien, ton thtfcfng thi trtfdng cd bin
manh v i liet van nhan. Doi khi cd the x iy ra m<?t hQi
chtfng tang ip lijfc n$i so thtfc stf.

Chup dong mach cd cho thay ro cac di dang mach

mau. Wyburn - Mason cd md ta nhtfng the benh nhe
khong cd phinh mach roi d mat. Trong y v in Anglo -
Saxon, phinh mach roi vong mac va cac trieu chtfng phoi
hcfp dtfoc biet nhiiu hon dtfdi c ii ten la hoi chtfng
Wyburn - Mason.

87
 91. BO N N EVIE - U LL R IC H - T U R N E R
(Hoi chufng)

Co ve hop ly neu tap hop vao trong mot hoi chufng

chung loan san tuyen sinh due, mot ben la trang thai
(status) Bonnevie va Ullrich, v6 ben kia la hoi chufng
Turner (1938). Thuc ra hai hoi chufng n6y co ve g in nhau.
Hoi chufng Turner xuat hien muon hon, d tuoi day thi, c6n
hoi chufng Bonnevie - Ullrich 16 the benh d tre em.

H q I chufng hay trang thai Bonnevie - Ullrich tap

hop kha day du cac di dang b im sinh.

- Nhi tinh vdi lun va tri d§n tam th in nhe;

- Nep gap da d cd (pterygium colli) va teo co tan man;

- Di dang d m&t, vom hong hinh cung nhon, di dang

tai, tat mom cho va sdt moi;
- Di dang d chi, dinh lien khdp xUOng quay - tru, cing
tay cong ra (cubitus valgus), trat khdp hang, di dang mam
xuong chay, di dang ngon tay (ngin, dinh ngon, lac ngon),
di dang mong va co cufng khOp.

- Doi khi hep dong mach chu va hep ong tieu hoa.

Hpi chtfng T u rn er cung gom co nhufng bien ddi chung

ve tam voc dudi cd binh thudng (hypostaturisme) va cac
di dang khac nhung con cd them chUng vo kinh nguyen
phat, buong trUng ngting phat trien hoac khong cd, va
hormon sinh due t£ng nhiiu. Thudng cd bi d6i thao. Day
la mot tinh trang loan san tuyen sinh due do lech lac the
nhiim s ic gidi tinh vdi gidi tinh the nhiim s ic nam
Nghien cUu caryotip thay c6c cong thtfc khac nhau, XO,
X X va kham. Ngudi ta cd mo ta mQt hoi chufng Turner d

88
ngtfdi dan ong (cong thtfc XY) trong dd thuong thav ton
thtfdng tun. Tuoi cua me khong anh htfdng gi. va hoi chtfng
nay khong co tinh gia dinh.
Bieu In cn <j mat cua hoi chtfng Bonnevie - Ullrich -
Turner rat da dang:

- Sup mi, nep quat da mi va lac thtfdng co: cung mac

xanh, due the thuy tinh bam sinh, loan s3c giac (do - xanh)
Con thay co ciic di dang bam sinh (loan dtfdng giac mac).
Cac di dang goc m ong - giac mac cd the tao ra glocom
bam sinh. Sau cung la kha n&ng co nhtfng di dang khac
nhtf khoang each 2 mat qua xa, khe mi xech ngtfdc (phia
trong len cao), khong co niim 1$, nhan cdu be, rung giat
nhan cau, hQi chUng thut nhan cau, di dang m&ng dong
tuf tat khuydt hdc mac. Trong khung dinh mot hoi chUng
da di dang nhu the, cdc di tat ke ra thi con nhieu.

92. BORNA (Benh)

Benh nay la viem nao - tuy cap tinh, truyen n h iim do

virus, d r ngUa, nhung cung co the phat sinh d ngUOi.

Mot vai trieu churng cua mdt da duoc mo t£, nhung co

ve bi chim lln di trong nhtfng trieu churng nang cua toan
th5n va than kinh. D6 la so anh sdng v& nha't la rung
giat nhan clu.

93. B O S C H (VAN DEN) (Hoi chUng)

Nam 1957, Van den Bosch co mo ta mot hoi chUng

chufng ket hop rung giat nhan cau bam sinh vOi thoai hoa
tuan tien hac mac va vong mac (choro i deremie), cac roi
loan cua hien bo (troubles des phaneres), rung toe, long,

89
loan san mong, cac di dang hot cam a da va tn tre tam
than.

94. B O STO N (Ddu hieu)

Dau hieu nay thuc te la trung ldn vdi dau hieu Von
Graefe, no bieu hien stf bat dong van gitfa nhan cau va mi
trong benh Basedow, tufc 16 mi tren dua len qu6 nhanh khi
mdt nhin len.

95. B O U C H U T (Not)

Not hoSc cu Bouchut 1& nhtfng 8 nh6 dien hinh trong

lao hdc mac ma ta gap khi kham day mdt cho benh nhan
bj lao ke hoac lao mang nao. Nhufng not nay tuang tfng
vOi cac o lao cua ldp mach mau hdc mac bieu hien dudi
nhufng ldi nho tron mau trdng nhat, dpi nhe mach mau
len. Cac not, doi khi co it thuOng tap trung 0 ctfc sau va
phai kham ky mdi thay. Chung tieu bien ddn va chi de
lai mot seo nho kho nhin thay, khong sdc to.

96. B O U R N E V IL L E (Benh)

Duoc Boumeville mo ta day du nim 1880, benh xa hoa

cu (sclerose tubereuse) la mot di dang kieu u a nhieu ca
quan hoac he thong, chu yeu la co tinh chat ngoai bi <nao,
vong mac va da) nhung cung co d nhufng ca quan nguon
gdc trung bi (than va tim). Benh nay nhap vao khuon kho
cac u nguyen tuy bao Van Der Hoeve.

Ben di truydn troi, bdm sinh va gia dinh. Bieu hien dau
tien co the xuat hien d tre em.

90
 - H<)i chufng than kinh - tam than gom chu yeu la
'long kinh, tam than tri don va cac trieu chiing tieu nao.

- Cac dau hieu da - niem mac dac trtfng. Nhtfng u

tuyen ba nhan km h dien a mat, to bang dau kim gam hoac
hot dau, khu tru a mat theo hinh canh btfdm. U tuyen
P ringle (1890) mau do mach mau, dac, mem. U Koenen la
nhtfng u xd nho o goc m ong tay.

Con co nhtfng u xd d da (u mem, lung lSng).

Doi khi co stf tSng san niem mac, ton thtfdng xtfdng.
Ngtfdi ta con mo ta nhtfng bieu hien cua noi tang nhtf d
than (benh da u nang), u trong tim va xd ctfng phoi da tieu
u nang.

Bieu hien d mdt chu yeu 16 ton thtfong dien hinh u than
kinh da (phacome, 50% trtfOng hap). Day la nhtfng not u,
loi, doi khi san sui nhtf qud dau, mau trdng - vang ho6c
xam nhat, hai sang, rai rac nhieu noi trong day mdt, c6
the gia dang nhtf mot u d gai thi. O tifng cho tren vong
mac, cd the thay nhtfng dam tron ho6c bau due mau trdng
- vang.

Con cd nhtfng bieu hien khde d mdt hiem hon nhtf dam
due dr the thuy tinh, viem gidc mac hinh dai b£ng, di dang
mdt (nhan cdu be, khuyet tat, giac mac nhon hinh
chdp.v.v...). Sau cung la phu gai, liet v§n nhan noi tai v6
ngoai lai la nhtfng trieu chtfng ndm trong khung canh ton
thtfong cua he than kinh trung tfong.

Tien trien cua benh thtfOng la dang so, da so benh nhan

chet trtfdc 40 tuoi.

91
 97. BOWEN (Benh)
Nam 1912, Bowen mo ta mot the benh dac biet cua
loan san da dudi cai ten goi la chufng loan sting tien ung
thu. U co dac diem la phat trien d ngudi ldn hoac nhieu
tuoi, va ve phddng dien md benh hoc. dac biet la co sii
tang sinh trong noi mo (epitheliom a noi bieu m o) dan den
sU phat trien v i b i m at han la v i chiiu sau. H ien nay,
benh Bowen khong con duoc xem nhu Id mpt ton thuong
t i i n ung thu, ma thuc sU do la mot epithelioma noi bieu
mo. Benh nay con co the thdy d niem mac, dac biet la 6
niem mac sinh due.

Ton thuong khu tru or mat da duoc biet ro. chu yeu la
d giac mac va ket mac nhan cau, bieu hien bang nhufng u
d vung ria. Thudng u co hinh the tron hoac tam giac. dang
keo, mau sac khac nhau; u ddn doc hoac nhieu Soi sinh
hien vi thay thudng co ve nhu hat lUu do he, th o n g tan
mach phat trien phong phu.

Khdi phat tCr giac m ac hoac ket mac nhan cau, ton
thudng co xu hudng lan rong ve b i mat; mang n in giac
mac tao thanh hang rao ngan khong cho ton thuong lan
xuong chieu sau. Xet nghiem giai phdu benh xac nhan ldp
noi mo bi day toan bo, thoai hoa bien dang nhan, cd te
bao loan sim g,'m ang nin con nguyen ven. Cat bo u la bien
phap’kha quan nhat. Con X quang lieu phap thi da nh cho
nhung the benh tai phat.

98. B R A L E Y (Loan dudng da dang)

Nam 1966, nhan co 4 trUOng hop benh an trong cung

mot gia dinh, Braley da mo ta mot loai rieng biet v i thoai

92
hoa vong mac a ctfc sau Ton thtfong co hinh dang nhufng
chain trang - vang nhat, khong deu nhau. tu tap lai theo
hinh vong iron quanh hoang diem, ma hoang diem nay cd
the gom nhufng o sac to. Cac chtfc nang thi giac dtfdc bao
ton mot cach nghich thudng.

99. B R A N H A M (Dau hieu)

La dau hieu lam sang cua phinh dong - tinh mach trong
ldi mdt dap nhip do thong thtfcfng giufa dong mach canh
trong noi so vdi xoang hang. Chen ep dong mach a cd se
lam giam bot nhip dap va tang ty le oxy trong mau tinh
mach cua vung nay. Dong tac nay dtfoc stir dung de chan
doan phan biet giufa phinh mach ho' mdt don thuan vdi
phinh dong - tinh mach (Branham, 1929).

100. B R A U L T - V IN C E N T (Hoi chtfng)

Hoi chufng nay ttfong iJng vdi mot ton thtfong d chom
cau nao. The benh lam sang nay cua liet nhin sang ben
(hoi chufng Foville) gom co:
- liet nhin sang ben cung phia ton thtfong;

- mat cam giac ntfa than cheo;

- mat dieu hoa nufa than ch6o;

- rung giat nhan cau phia d6'i lap vOi liet nhin b§n.

101. B R IL L (Benh)

Dtfoc biet nhieu hon dtfdi ten benh sot Rickettsia (ty­
phus), benh truyen nhiim dang so nay gay cac trieu chufng
0 mat do nhiim rickettsia va do ton thtfong he than kinh
trung tfong. Theo Toulant thi trong tat ca cac trtfdng hop

93
deu co sung huyet ket mac va doi khi no xay ra tru<ic so t
Co the xuat huyet ket mac. Benh nhan thuong nm la so
anh sang. Ton thuong nao gay ra co dong tu va viem thj
than kinh vdi gai thi bac mau.
Trong benh canh cac ton thuong day than kinh so cd
liet cac day III, VI va rung giat nhan cau. Cuoi cung thi
viem nhiem cac ldp vo nhan cau se dan den viem hdc
- vong mac, due the thuy tinh hinh thai phiJc tap, qudng
ga. Viem mi va hoc mat thudng xay ra o thdi ky difdng
benh; ngudi ta cung co ndi tdi loet gidc mac c6 kha nang
thung.

102. B R ILL - S Y M M E R S (Benh>

Benh hach bach huyet co te bao khong lo ^Brill 1925 -

Symmers, 1927) tien trien nhu mot sacom lvmpho man
tinh tan cong vao nhUng vung hach co - nguc. nach,
ben,v.v... va thudng kem theo lach to.

Ton thuong he thong vong mac - noi md gay tang sinh

lympho tren da mi va cac u trong hoc mat, u tuyen le vdi
loi mat va song thi.

103. B R ISSA U D (Hoi chufng)

Hoi chufng than kinh cdu nao vdi dac diem la co cufng
mot ben (hemispasme) trong pham vi chi phoi cua day
than kinh mat cung ben... phoi hop vdi liet nua nguoi phia
ben kia, chu yeu la lietveae dau chi.

104. B R O C K

(Xem DUHRING - BROCK)

94
 105. BROOKE (U)
Benh da nav iBrooke. 1892) co dac diem la u d nang
long - ba (follicules pilosebaces) hoac d tuyen m6 hoi sau
cua da.

Sir tSng tan san bieu hien bflng nhufng not san (papule)
li ti, tron, mau trang, vang nhat, d dudi da mat, mi nhat
la d mi dudi.

Benh co the on dinh lau dai, nhung cung co the bien

thanh ung thu bieu mo te bao day.

Xet nghiem mo benh hoc cho thay cac cau tao nang u
kha ldn chay ngang qua nhufng cd'u tao u tuyen. Biiu tri
bang phdu thuat hoac quang tuyg'n lieu phdp.

106. B R O W N (Hoi chdng)

Duoc Brown mo ta nam 1950, hoi chdng nay con duoc

biet dudi ten goi la hoi chdng bao co cheo ldn.

Mot di dang bam sinh cua bao co ch£o ldn gay ra co

rut mot ben gia dang nhu mot liet co ch£o b6; thifc te la
khi nhin len va vao trong (hoat trudng cua co cheo be) thi
dong tac van nhan bi han che, gay cdm nghl nhu liet co
ch£o b6.

Doi khi benh canh lam sang, goi y benh canh liet cua
hai co dua mdt len d mdt ay-

TrUdc phdu thuat, viec chan doan cdn cd vao test cudng
keo co (test de duction forcee), cho thay nhan cau khong
the dua len cao mot cach thu dong ve phia hoat trudng
cua co ch6o be.

95
 107. BR OW N

(Xem hoi chUng DENNY - BROWN)

108. B R O W N - SE Q U A R D (Hoi chtfng)

Hoi churng nay duoc Brown - Sequard mo ta nam 1849

tao nen bdi ton thuong tuy d ntifa ben phai hoac ben tr6i.
0 the benh thu6n tuy, co dac diem 16:
- liet mot chi dudi ben phia ton thuong, kieu co cuTng
hoac nheo - co curng, vdi cac roi loan cam giac sau;
- mat cam giac nong d vung dudi phia doi lap vdi ton
thuong.
Hoi chung nay it khi a the thu6n tuy. Chi nhufng ton thuOng
ntfa tuy a vung cao va co mdi gay cac trieu chufng mat (gliom
tuy, benh rong hanh nao) nhu rung giat nhan cau, mat cam
giac giac mac, dong tu kieu Claude - Bernard - Horner

109. B R O W N LEE (Dau hieu)

Trieu chiifng nay nkm trong cac dau hieu xuat tiet mat - so
mui cua benh soi. Bieu hien bang phu n§ nhe ket mac mi

110. B R U S H F IE L D (Cham)

Cham Brushfield (1924) la nhUng dau vet dac trUng cua

benh chufng Langdon Down (Mongolisme) bieu hien a mong
mat. Day la nhUng cham trang hoac vang nhat rat be, d
phia ngoai chan mong mat, cach quang d§u va xep theo
hinh vong tron. Di dang mong m6t nay gap trong mot nua
so trudng hop benh Mongolisme vk rat thudng thav o
nhUng mong mat nhat mau, con d mong mat dam thi it
hon. Nhting cham nay tuong dug vdi mdc tang dam dp d

96
cac lop t rtfdc cua nhu mo mong mat (xem benh Langdon
Down;.

111. BUCKLERS

(Xem REIS - BUCKLERS)

112. B U ER G E R (Benh)

Benh nay dtfcfc nhieu ngtfcri biet, la mot the hiem thay
cua benh viem tac dong mach, chi cd a ngtfdi tre va nam
gidi( Buerger, 1917). La the benh tieu bieu nhat cua viem
dong mach d ngudi tre; thudng hay gap d ngtfdi Israel va
cdc vung Trung Au va D on g Au.

Benh gay ra nhufng huyet khdi tien trien cham va

thtfdng thay co cdc ton hai tinh mach (viem nghen mach
mau). B^nh cd the a d<?ng mach cac chi va khong phai chi
cd d chi dtfdi. Doi khi d ca dong mach noi tang.

Trieu chtfng mat chu yeu la d vong mac; doi khi co cac
trieu chdng thi giac nhtf nhin bi che khuat (eclipse), bieu
hien tinh trang co th^t mach mau vong mac.

Soi day mat cd the xac dinh nhtfng huyet khoi d tinh
mach vdi xuat huyet vong mac hoac t6c nghen dong mach.
Doi khi huyet khoi chong len nhau va lap di l6p lai d he
thong mach mau day mSt. Vi the dich ri, xuat huyet, phu gai
la nhtfng trieu chtfng thay co trong benh viem nghen mach
mau. Xuat huyet tai phat d dich kinh cung duoc ndi den.

It khi gap cac trieu chtfng thuoc loai than kinh - m^t
v6 chung n&m trong khuon kho cua tac nghen he than
kinh trung tfcmg.

97
 113. BUMKE (Dau hieu)
Duoc Duke - Elder noi den. Trieu chiifng nay d" >tf r()l
loan cac phan xa tain than - giac quan. gay ra tinh trang
co that dong tu, lam cho dong ttf gian mot phan. o nhtfng
ngtfdi than kinh nhay cam va hay lo nghi (Bumke. 1928).
Stf gia tang hoat dong ciia he than kinh giao cam co ve
nhtf kim ham thtfc stf hoat d on g co dong ttf cua than kinh
pho giao cam (hien ttfong cang trtfong ltfc: phenomene de
catatonie).

114. B U R G E R - G R U T Z (Benh)

Chtfng tang lipid huyet vo can Burger - Grlitz (1932) 16

m ot benh cd tinh gia dinh tre em, bieu hien stf roi loan
chuyen hoa lipid (khong cd lipase thanh dich).
Ve toan than, benh nay gay ra nhtfng u vang tran lan
d da, gan to va lach to.
Mo trung tinh tich luy trong mau, lam cho huyet thanh
co dang due nhtf sffa.
O mat, benh gay ra trang thai lipid huyet cf vong mac,
va giac mac mO due do tham lipid vao nhu mo

115. B U R N E T T (Hoi chtfng)

Hoi chting nay do stf roi loan chuyen hoa calci vi an

uong, tao ra cac trieu chtfng tieu hoa va than. Cac xet
nghiem sinh hoc cho thay cd trang thai nito huyet vdi
nhiim kiem mau ma khong thay cd cac roi loan ve dao
thai ntfdc tieu.

Trieu chiifng mat gom cd: tham nhiim calci vao ket mac
va viem giac mac kieu dai bang kinh dien d dien khe mi.

98
 116. BUSACCA (Not)
La nhtfng not nho. nhtfng dam to bao bieu mo va te
bao lympho xuat hien a mong mftt trong viem mong mat
u hat (Busacca. 1932). Nhtfng not viem mau xanh nhat nav
thtfdng a nhu mo m ong ve phia vien vay icollerette) va
s3p xep d la trtfdc trung bi cua mong mat.
Not Koeppe cung co y nghla nhu not Busacca. khu tru
phia bd dong ttf dtfdi dang nhtfng o tron nho mau trSng
nhat. Chung co the tu tap lai thanh dam va gop phan tao
nen nhtfng cho dinh m ong mat - the thuy tinh. N ot Koeppe
d cac ldp ngoai bi cua mong mat.

117. B U SSY

(Xem hoi chufng DEVIC - BUSSY - GARDNER)

118. BUTLER (The thuy tinh hinh chop)

The thuy tinh hinh ch6p phia trong (lenticone interne)
hoac quanh nhan Butler (1938) 16 mot di dang co gidi han
cua the thuy tinh, khu tru d phan sau cua nhan trudng
thanh va loi ra phia ldp vo. Butler da mo ta loai the thuy
tinh hinh chop nay mac du mat sau the thuy tinh v in c6
do cong binh thtfcfng.

99
 c
119. C A F F E Y (benh)
Benh xay ra cr tre em trong nhtfng thang dau sau de,
din den chtfng day xtfong so. Day la mot stf tang san m6ng
xtfcfng, chu yeu la a cac xtfong dai, xtfong so, xtfcfng ham
va xtfong don. Trong mot so trtfOng hop, co xuit hien phu
hoi dau or cac lOp cua da doi chieu vOi ton thtfong xtfong.
0 m it, co the loi nhan cau.

120. C A M U R A T I - E N G E L M A N (Benh)
Loan san than xtfong tuan tien Camurati (1922) va
Engelman (1929) xay ra d tre em, thanh nien va tiep dien
cho den tuoi trtfdng thanh. Benh co dac diem chu yeu la
day va dam dac cac than xtfOng (hinh con thoi).
Cac hanh xtfong (metaphyse) va dau xtfong v in gitf hinh
dang va do trong binh thtfOng. 0 1/3 so trtfOng hop, chup
X quang thay dam dac xuong nen so va doi khi xuong tran.
Tinh di truyen va gia dinh khong hang dinh. Bi§u hien cr
m it rat hiem thay va neu co thi do 16 teo thi th in kinh
do hep ong thi.

121. C A R O L

(Xem hoi chufng BEHCET)

122. C A V K A (Hoi chtfng)

Hoi chtfng nay co dac diem 16 bi benh hie to tran lan o

co the (melanose corporelle diffuse), nhung chi o mot ben.

100
 Cd phoi hop nhtfng bieu hien tang sdc to a mdt nhtf
tang sSc to d m ong mat; thoi Krukenberg sau giac mac va
vong sSc to quanh gai thi.

123. C A ZE N A V E (Benh)
Btftfc Cazenave mo ta nam 1844, benh nay ttfcfng tfng
vdi benh pemphigut troc toan than (pemphigus foliace
generalise).

Benh cd bong dang so nay din tdi mot tinh trang troc
mang da khdp ngtfdi vdi nhtfng seo rum ro. Thtfdng bi d
mat, gay ra co rut mi vdi lat bd mi va cac ton thtfong co
rum ket mac.

Them vdo, cdn c6 nhtfng r6'i loan dinh dtfdng nghiem

trong d giac mac vdi mdng mdu vd seo c6 g6c canh.
Ngtfdi ta con mo ta nhtfng bi§'n doi d mong mdt do tdng
sdc to'.

124. C E S T A N - C H E N A IS (H0i chtfng)

Hoi chtfng hdnh nao giao b6n ndy ttfong tfng vdi m6t
ton thtfong cua nhan Id md (noyau ambigu) vd cdc thdp
hanh nao.

Trieu chtfng k£t hop hQi chtfng Babinski - Nageotte vdi

hoi chtfng Avellis (xem ten nay) ; hoi chtfng Avellis gom
cd liet ntfa man hau va liet day thanh cung phia vdi mat
cam giac ntfa than phia ddi lap kieu rdng tuy sdng (type
syringomy^lique).

125. C E S T A N

(Xem hpi chtfng RAYMOND VA CESTAN)

101
 126. CH AG AS (Benh)

Ten nay ndi ve benh Trypanosoma (T Cruzi) thay a Nam

My. Trieu chiifng d mat thudng gom co phu ne ini xav ra
khi benh khdi phat va hinh nhu do tinh chat phan ve <dau
hieu Romana).

127. C H A R C O T (Benh)

Ten goi cu cua benh viem da khdp man tinh do thdp

khdp d ngudi ldn (nguyen ban mo t£ cua Charcot nSm
1853). Cung ten viem da khdp thap, viem da khdp man
tinh tien trien.

Bieu hien d mat tuy it xay ra nhung moi ngUOi deu biet,
chu yeu la giac - cung mac.

128. C H A R C O T (Tam churng)

Tap hop 3 trieu churng (rung giat nhan cau, rung van
dong hUu y - tremblement intentionnel - ndi nhat gtfng)
la dac diem cua ton thuong tieu nao thudng gap trong tien
trien cua benh xa ctfng rai rac.

129. C H A R C O T V A M O E B IU S

(Hoi chtfng gia Migren)

Hoi chtfng gia migren (syndrome pseudomigraineux)

Charcot va Moebius la mot chtfng dau ntfa d lu do liet mat.
Ngoai trieu chtfng dau dau va am diem lap loe (scotome
scintillant), con them lift van nhan (day VI), to’ n hai phan
xa gan v& bien doi dich nao - tuy.

102
 Hoi chiing nay doi hoi phai tim kiem mot nguyen nhan
than kinh ro rang, trong do chiing dau dau co the la thuf
phat hoac trieu chiing cua benh.

130. C H AR C O T - M A R IE - TOOTH

(Teo ca than kinh)

Benh teo cc( than kinh (amyotrophie neurale) di truyen
va gia dinh co dac diem la teo ca a rieng cac ca nho cua
ban chan va ban tay, khong dung den ca ciia chi.
Di truyen gen, hoac co lien quan den gidi tinh va chi xay
ra d nam giai hoac theo kieu troi d ca nam lan nOf (Walsh).
Cac trieu chiimg dau tien thudng xuat hifn d tuoi tre em.
Hiem thay trieu chdng d mat ; tuy nhien cung cd ndi den
mot thoai hoa vong mac v& t6n thuong thi thin kinh. H
Trong cung mot gia dinh, chufng teo co than kinh thoai
hoa cd the cung ton tai vdi chufng mat dieu hoa (ataxie)
kieu Friedreich va do dd nhap v6o cung nhom c6c churng
mat dieu hoa di truyen.
Benh tien trien rat cham. Nguyen nhan sinh benh chua ro.

131. C H A R L IN (Hoi chdng)

Hoi chdng m£t - mui Charlin (1930) tUdng dng vdi churng
dau day than kinh mui - the mi. Trieu chdng gom cd nhufng
can dau khu tru d goc trong mi mat, d goc mui vdi chay
nude mui duT doi va sung huyet da vung ay.
Cd the kem theo chay nude m6t va so anh sang ; doi
khi co viem giac mac nong, nho cocain niem mac mui hoac
tiem con vao hach the mi se lam giam con dau phan dng
kieu r£t ddc biet nay.

103
 132. C H E D IA K - H IG A SH I
(Hoi churng)

Hoi chufng gia dinh, gay tii vong Di truyen co le theo kieu
lep Duoc Chediak (1952) va Higashi (1954) nghien cUu

Trieu chufng ngoai m6t g6m co tang sic to cr cac vung

da, hach, gan va lach to. Xet nghifm huyet hoc cho thay
cac di thudng bach cau nhtf cd hat va the vui (inclusions).
Them vao con c6 thieu mau. Bfnh nhan rat nhay cam vdi
cac benh nhiem khuS'n (viem amydan, benh phoi.v.v...).
Trieu chtfng m6t thu gon v6o mot chtfng bach tang a mong
v6 hie - vong mac, gay chay nude m6t, scr 6nh sdng v6
rung giat nhan cau.

Benh nay thuoc nhom cac benh enzim.

133. C H E N A IS

(Xem hoi chtfng CESTAN - CHENAIS)

134. C H IA R I

(Xem hoi chtfng ARNOLD - CHIARI)

135. C H R IS T - S IE M E N S (Hoi chtfng)

Con duoc biet dudi cai ten goi la da loan san giam tiet
mo hoi ngoai bi (polydysplasie anhidrotique ectodermique)
hoac hoi chtfng Weech, benh n6y gom chu yeu la teo ho^c
giam san da bam sinh (Christ - Siemens, 1929). Da nhin.
mong va it long ; sinh thiet da cho biet khong co tuyen
tiet md hoi. Do d6 khong tiet duoc mo hoi va dac bift la
d tre con bu rat d i bi cam ndng. Ton hai rdng 16 mot yeu

104
to chu veu cua hoi chufng. gav ra nhufng di dang rang nhon
fhinh chop) hoac khong rang. Diec cung duoc noi den.
Trieu chufng mAt gom co due the thiiy tinh bam sinh.
can thi co dich kinh bi long va viem giac mac soi do giam
tiet nUdc mat.
Chufng da loan san nay di truyin da dang va con phai
ban luan nhieu; ngudi ta co neu len di truyen theo kieu lep.

136. C H R IS T IA N

(Xem benh HAND - SCHULLER - CHRISTIAN)

137. C H V O ST E K (Dlu hieu)

Dau hieu Chvostek la su co ctfng cdc ccf chi phdi bdi day
th in kinh mat nhu a mep moi, cdnh mui va co quip mi.
Su co ctfng co nay se boc lo khi ta go nhe vao gdc th in
kinh gitfa dng tai va mep moi.
Trieu chtfng nay n lm trong khuon kho t&ng hung phan
th in kinh co cua benh tetani.

138. C LAU D E

(Xem hoi chtfng BENEDIKT)

139. C L A U D E B E R N A R D - HO RN ER
(Hoi chtfng)

Hoi chtfng nay moi ngUcri deu biet, mang ten Claude Bernard
- Homer, mot mat la do nhtfng cong trinh thuc nghiem noi
tieng cua Claude Bernard ve clt day than kinh giao cam co
(ttf 1851 den 1862); mdt khde nhd Homer la ngUcfi da mo ta
lam sdng lln dau tien ve hoi chtfng ndy (1865).

105
 Chung toi khong muon nhan manh mQt cach vo bo ve
mot hoi chufng nhu the ca ve mat lich stf cung nhu trieu
chufng hoc ma tat ca cac sach ve y hoc cung nhu ve nhan
khoa tren the gidi deu da noi qua d iy du.
Trieu chufng cua no tuong tfng vdi mot ton thucmg cua
he th in kinh giao cam khu tru d mat.
Bo ba trieu churng kinh dien cua n6 nhu sau:
1. Co d o n g tuf: la dau hifu chinh, tuong tfng vdi lift
co gian mong m it.

- dong tuf co it;

- phan xa dong tuf binh thudng;
- nho thuoc lam thuf nghiem cho phep xac nhan co dong
tuf giao cam.
Hien tuong ddng tii Tournay xac nhan tinh chat giao cam
cua co dong tuf; binh thuong khi ta nhin sang ben va ctf gitf
m it lien tuc d tu the ay thi dong tuf d ben m it dua ra phia
ngoai (en abduction) gian (hien tuong ddng ttf Tournay, 1937).
Nhung neu bi liet giao cam thi:

- Khi benh nhan dua m it nhin sang ben phia m it lanh

2 ddng tuf se cang chenh lech hon, dong tuf ben phia m it
lanh gian ra, con dong td ben m it liet thi van co lai:

- Khi benh nhan dua m it nhin sang ben phia m it liet thi
su chenh lech gitfa hai dong tu co xu the mat di, vi luc bay
gid ben phia dong ttf co se gian ra, mac dau gian kha ludi.

2. Thu hep khe mi (liet co tron Muller)

Mi tren hoi sup xuong va n h it 16 mi dudi thi lai hoi

cao len, bd mi dudi phu che mot phin giac mac trong khi

106
clang le phai lo ra 'dau lucu Ogle, 1858). Ve van de nay,
Garcin co mo tti dau lucu cung m ac: ta gia cao tilr tu mot
vat trUdc mat benh nhan va bao ho nhin theo. ta se thay
d phia mat lanh long trdng hien ra, trong khi a ben mdt
benh, giac mac con bi mi che phu.

3. Lorn m at kha ro

T h e m vao bo 3 trieu chiifng nay con co nhufng dau hieu

phu nhu m ong mdt khac mau (hoi chtfng Fuchs doi khi co
neu len nguyen nhan sinh benh ndy), dieu tiet kho kh&n,
nhan ap ha, roi loan van m ach d mdt.

Dudng di dai va ldt 16o cua chuoi giao cdm den mdt la
ca sd de giai thich nhtfng cSn nguyen phtfc tap va c6c trieu
chtfng phoi hap trong hoi chtfng ndy (h0i chtfng Babinski
- Nageotte, hoi chtfng Wallenger ching han).

Hoi chtfng Pourfour du Petit cd nhtfng dau hifu tr6i

ngugc lai vdi hoi chtfng Claude Bernard Horner (xem ten
Pourfour du Petit).

140. C O A T S (Viem vong mac)

Duqc Coats mo ta ndm 1908, bfn h viem vong mac dich

ri ra ngo6i (retinite exsudative externe) 16 mot thuc the
16m sdng da ro r6ng mk cac n hk nhan khoa deu biet ro
trieu chtfng.

Ve nguyen ly thi thoai hoa gia viem vong mac nay xay
ra d mot mdt va d tre em hoac ngudi tre, thudng d nam
gidi han. NhSn vi bi giam thi life ho&c bi mu mot mdt
(xuat hien 16c) m6 ta soi day mdt, th iy ro nhtfng ton
thuang diic bift sau dfiy:

107
 - Tham lau dich ri trang hoac trang - vang thuong hay 0
cUc sau. sap xep nhu mot vong hoa rang cua. co vien. tao ra
ve nhu mot trang hoa dich ri. Co the phoi hup them xuat
huyet vong mac vdi nhung o cholesterin sang lap lanh.
- Cac dj dang mach mau, thuc sU la nhUng gian mao
mach d ngay canh nhtfng dam dich n nay hoac a xa hon.
Doi khi gai len trang thai cua nhtfng phinh mach hat ke
trong benh Leber (xem ten nay).
Benh on dinh trong thdi gian lau, nhung cac trieu chtfng
tang ttf ttf dudi dang ton thuang gia u I6i ra 0 day m£t.
Luc nay cd the xay ra xuat huyet dich kinh, cac dang u
nang dr ngoai vi.
Sau cung, thj luc giam dan va xuat hien mot bong vong
mac viem thuc thu, lan chiem o djch kinh va c o the gay
ra cac bien chiifng nhu tang nhan ap thu phat. due the
thuy tinh bien chtfng,v.v....
Su tham lau albumin - lipid nay pha hoai dan cac lap
vong mac, nguon gdc cua no hay con kha bi an Su co mat
cua cac di dang mach mau phoi hap cho phep ta sat nhap
hoi chtfng nay vao trong khuon kho rong lan cua cac benh
u mach vong mac.

Khong co dieu tri dac hieu cho benh viem vong mac.
Coats, dau rang dot nong, quang tuyen lieu phap. tiep xuc
lieu phap, quang dong co the tri hoan su tien trien hoac
tham chi' giti cho no on dinh.

141. C O ATS (Vong giac mac)

La sU loan dudng ky la c6c ldp nong giac mac, duoc

Coats bao cao lan dau tien nam 1912.

108
 Cac vong giac mac thuong d cac ldp nong nhat cua giac
mac va so luong thay doi. Thudng hay khu tru d chu bien
han. Hinh dang tron hoac bau due va doi khi chi la mot
von g eung thoi. Soi sm h hien vi thay nhtfng vong nay gom
cd nhieu hat nho trang ap chat ben canh nhau. Kich thudc
be, dudng kinh trung binh 0,05 mm. Vong cd mau sSc nhu
phan hoac bach diem (ceruse). Nhtfng vong nay d tren mot
giac mac, von hoan toan binh thudng, ngay trUdc mang
Bowman va khong dpi bieu mo len.

Ve nguyen tSc thi tien trien on dinh, khong gay ra bien

chtfng gi. Can nguyen hien nay con chua biet ro.

142. C O C K A Y N E (Hoi chtfng)

NSm 1936, roi den n&m 1946, Cockayne co mo ta mot

hoi chtfng gom co chtfng liin vdi viem vong mac s6c to' v6
diec. Hoi chtfng da di dang nay hiem thay v& hinh nhu di
truyen theo kieu lep autosom.

Roi loan n h ieu ve hinh thai: Dtfa be khi mdi sinh,

tam voc va trong lugng binh thudng, thay lun vao khoang
3 tuoi va sau dd lun them. Cd the bi tat dau nho, ham
nho, tai ldn qua khd. Da mong va cd teo ldp md dudi da,
lam cho dtfa be cd ve gia di (progeria: chtfng lun gia). Dan
dan bi thieu n&ng tam than (oligophrenie) va tien den tri
don. Ddi khi cd nhtfng dau hieu than kinh nhu run ray, co
ctfng chi dudi va roi loan budc di.

D iec, cd le kieu me dao tuan tien. Sau it nSm, diec

ho&n to&n; neu diec bam sinh hoSc sdm cd thi kem theo
ca tat cam.

109
 Trieu chufng d m at: chu yeu la thoai hoa vong mac
kieu sac to ma dang thudng hay thay la tieu inuoi Gai
thi tai nhot, mach mau thu hep. Doi khi day mat gdi hinh
anh mot viem vong mac sac to di en hinh vdi sac to kieu
tao cot bao d chu bien.
V i dien vong mac ky, co lam 1 trudng hop (ba Braun
- Vallon) thay binh thudng.

143. C O G A N (Hoi churng)

Duoc Cogan mo ta nam 1945, hoi chufng la stf ket hdp

mot viem giac mac nhu mo sau khong phai nguon goic giang
mai, vdi ton thtfcfng oc - tien dinh xay ra d ngudi tre.

- B ieu hien cf m at la mot vi em giac mac nhu mo sau

o nUa sau cua nhu mo giac mac, nhung kho ng co phu ne
giac mac; tham lau giac mac dudi dang lorn dom va tUng
cham. Co it hoac k hong co phan tfng cua tien phdng. Ton
thucfng gay seo d giac mac la nhUng tan mach nho d sau.
Thudng viem giac mac d ca 2 mat, nhung cung cd the chi
d mot mdt. Kieu viem giac mac sau nay tien trien dai
dSng, cd ttfng giai doan thuyen giam tiep noi nhufng ddt
kich phat tien trien. Noi chung thi luc it bi ton hai.

- Bieu h ifn cua me dao va oc tai rat dien hinh va

cho phep ta chan doan phan biet ro rang vdi cac viem giac
mac nhu mo do giang mai bam sinh.

Diec mot cach dot ngot, hoan toan, kieu tai trong
Tien ludng rat xau.

. Chdng mat kieu Meniere cd u tai va co cac dau hieu

khach quan cua ton thudng me dao.

110
 Ngtfdi ta muon gan vao hoi chufng doc dao nay cac the
benh khong dien hinh, trong do cac dau hieu oc tai - tien
dinh phoi hop vdi cac trieu chufng mat khac nhu viem ket
mac, viem cung mac, viem mang bo dao, viem bao Tenon.
Nhu vay trong cac trudng hop nay co the cd nguyen nhan
benh ly nhi em khuan. Tuy nhien con cd the goi den nhufng
nguyen nhan khac nhu benh ciia lie thong (viem quanh
dong mach co cuc), benh Buerger, ngo doc thuoc,v.v...

144. C O G A N (Mat dung dong t&c van nhan)

Hoi chtfng mat dung dong tac van nhan (syndrome

d’apraxie oculo - motrice) bieu hien ra nhu mot liet ro cac
dong tac dua mat nhin ngang, xay ra d tre em nam gidi
(chan thudng san, nguon gdc gia dinh). Trieu chtfng xuat
hien sdm: d tuf the nguyen phat, benh nhan khong the on
dinh 2 mat dtfdc, thanh ra b6t buoc benh nhan phai quay
dau de nhin quanh diem dinh thi. Cdc dong tac nhin ngang
theo y muon va nhin dudi vat tieu theo phan xa deu bi roi
loan trong khi dong tac nhin dtfng vin binh thtfdng. Nghien
ctfu rung giat quang - dong cd thay pha nhanh bi giam
hoac mat. Stf mat dung dong tac van nhan nay co the gay
kh6 khan khi doc, nhtfng co the tien bo dan dan, hoac co
the di den liet nhin ngang theo y muon.

145. C O G A N (Loan dtfdng vi u nang bieu mo)

Loan dtfdng giac mac nong vi u nang dtfoc Cogan va

cong stf nghien ctfu ky nam 1964. Loai viem ket mac nay
bieu hien bang nhtfng cham md due, rai rac; nhtfng mun
ntfdc nho 0 nong, dong deu d khoang hcf khe mi 2 mat.
Trieu chtfng cd nang thtfc te khong co. Ton thtfdng giac

111
mac co ve tam then Cac trudng hop benh an lam sang
cho thay xu the nU bj nhieu hon.
Xet nghiem mo benh hoc cho biet nhtfng cho mo due
giac mang nong nay tuong tfng vdri nhtfng mun nude trong
bieu mo gom nhtfng manh stfng hoa phoi hop voi stf t£ch
doi mang Bowman 0 gitfa cac te b&o bieu mo.

146. C O LLE T (Dlu hieu)

Khi bi liet ngoai bien day thin kinh mdt, mi m it cd

mo va nham nhieu lln se d in den hien tuong tr£i nghjch
la ben phia m it liet, mi md rong hon v& nhanh hon ben
m it lanh.

147. C O LLIER (Liet d khe budm)

Hoi chtfng Collier (1921) co dac diem la ton thuong than

kinh d doan di qua khe btfdm do phan tfng viem tai do
(viem xoang, phan tfng mang xuong). Vi vay trong qua
trinh bi loi m it co dau nhtfc thi se bieu hien mot hoi chtfng
liet kha hoan chinh cua khe budm, gdm cd:

- Liet day th in kinh III, IV va VI.

- Mat cam giac day thin kinh sinh ba (nhdnh m it Willis).

Trong mot so' trudng hop, chi ton thuong day van nhan
ngoai. Nhtfng liet kich phat tam thdi va tai diln nay tuong
tfng vdi nhtfng hien tuong cd the la nhiim khuan hoac dj
tfng d vung mang xuong dinh hdc m it.

148. C O LLIN S

(xem TREACHER - COLLINS)

112
 149. COLOMB (Benh)
Benh Col omb (1967) con dime biet dtfdi cai ten gia seo
hinh sao tir phat (pseudo - cicatrices stellaires spontanees).
Cac chain nho mau trSng nhat a da thirdng co hinh ngoi
sao kha hoan chinh. Nhufng seo gia nay or mat mu ban tay
va c4ng tay. Day la mot the benh cua da bi lao hoa, rat
hay gap (20% a ngtfdi gia).
Nhtfng ton thtfcfng da nay doi khi thay co o ngtfdi tre:
dieu tri bang corticoid dai ngay de gay teo va lao hoa sdm
mat da, Bazex va Dupre co bao cao mot trtfdng hop gia
seo 0 mi dtfdi do stf dung Corticoid

150. C O N R A D I - H U N E R M A N N (Hoi chtfng)

Hoi chtfng da loan dtfdng dtfoc Conradi (1914) va Hiiner-

mann (1931) mo ta con mang ten la chtfng loan dtfdng sun
voi hda b lm sinh hoac benh voi hda cham dau xtfong
(maladie des Epiphyses pointillees). Benh co tinh chat bam
sinh, xay ra rat sdm va thtfdng la ttf vong; di truyen theo
kieu ldp autdsom. Benh gay ttfong tfng vdi mot vdi hoa
nguyen phat cd hoac khong cd loan dtfdng sun.
Tdn thtfong nhieu v i lam sang nhtf sau:
- Cf tre em thi c6c xtfong dai bi ng^n di (ng6n chi ttf
gdc: micromelie rhizomelique) lam cho tr£ em cd dang lun
do loan san sun. Thtfdng thay xtfong bi uon cong hoac di
dang, cQng nhtf hay thay cac di dang d khdp;
- Chup X quang bo xtfdng cho thay nhtfng chd vdi hoa
tdn man d cac dau xtfong, kich thich b&ng dau kim gam
ldn (vdi hda chS'm d6u xtfong), dac biet la d dau cac xtfong
dai (xtfong canh tay, xtfong dui);

113
 - Roi loan a da gom co vay ca (ichtyose). tang sung hoa
(hyperkeratose);

- Nhieu di dang o xuong so - mat, cr tim, cac dau chi,

cung co duoc mo ta.

Trieu chUng cr m6t la due the thuy tinh bam sinh gap
khoang 50% so trUOng hop.

Due the thuy tinh thay c6 ngay luc mOi sinh hoac phat
sinh trong nhtfng thang dlu, thudng 16 due to6n bp hoac
due or nhan

The benh hoan chinh cua voi hoa phoi thai dan den ttf
vong truOc 2 tuoi.

151. C O O L E Y (Thieu mau)

Nam trong khuon kho cua nhtfng thieu mau cd te bao

hinh liem (benh thieu mau vung bien - thalassemie; thieu
mau Dia Trung Hai - anemie mediterraneenne) - The benh
chinh la chtfng huyet cdu to di thtfOng F (hemoglobinose
F), the hien 6 ngtfOi dong hop ttf (homozygote) bang stf
thieu mau tan huyet nghiem trong gan - lach to, mot dien
mao 'ngtfOi Chau A " (fades Asiatique), va nhtfng di dang
X quang cr so. Xet nghiem huyet hoc cho thay co hong cau
hinh bia (hematies en cible). Sat trong huyet thanh tang
Lam dien di cho thay ton tai mot so ltfong bat thtfOng cac
huyet cau to kieu phoi chong kiem. Benh nay gay ttf vong
O ltfa tuoi thieu nhi.

Co the thay nhtfng bieu hien o mat, chu yeu la o vong

mac nhtf tinh mach gian ra va ngo6n ngoeo, teo thi than
kinh, phu vong mac, huyet khdi o mach m6u co xuat huvet.

114
He t ho ng mach trong viem vong mac tang sinh co the gay
ra chay mau dich kinh

152. C O P P E Z V A D A N I S (Thoai hda hoang diem)

Benh thoai hda hoang diem lao suy dich ri gia u Coppez
va Danis (1923) con mang ten Junius va Kuhnt (1926).

Loai ton thucfng thoai hda hoang diem lao suy nay
thudng d ca 2 mat va dan den mat thi luc trung tam lam
cho k h o ng doc duoc. Soi day mat thay d hoang diem va
trong pham vi cua cac mach mau thai duong, cd mot hoac
nhieu cau tao hinh dla mau trang - vang nhat bi nhUng
xufi't huyet nho che phu va loi vao trong dich kinh. Trang
huong nay doi khi lam cho ta nghi tdi mot khdi u va tao
ra mot the gia u tan sinh cua thoai hda h6c - vong mac
dich ri.

Su mong manh cua ldp mach h£c mac lien ngay dudi
vong mac d ciic sau se gay ra xuat huyet tdi dien mo xu
hda va dich ri d vong mac.

153. C O P P O C K (Due the thuy tinh "Coppock")

Duoc Nettleship va Oliver mo ta, loai due the thuy

tinh bam sinh the bui khong tien trien nay mang ten
cua mot ngudi ten la John Coppock sinh nam 1774 d
Milton, tinh Oxfordshire. Su thuc la loai due the thuy
tinh nay da duoc nghien ctfu d trong cac con chau cua
gia dinh nay. Cac chd md due cua the thuy tinh the hien
nhu nhtfng cha'm nho tu tap lai thanh hinh mot cai dla
nho mong n&m gitfa nh£n trung tam va c6c ldp sau con
nguyen ven. Ngoai mot vai hien tuong loa mat, loai due

115
the thuv tinh bam sinh nay khong lam giam thi luc va cd
ve k ho ng tien tri en

154. C O W E N (Dau hifu)

Dau hieu Cowen la mot phan ting manh ciia dong tu trUdc
si/ kich thich anh sang; thay co trong benh Graves - Basedow.

155. C R E U T Z F E L D - J A C O B (Bfnh)

Mot hoi chtfng ma thuc the lam s6ng hifn nay dang
con dupe ban cai, bieu hifn b&ng stf thoai hda hoac gia xo
hoa cua vo nao, cua nhan xam nen so v& tuy.

Ve lam sang, dau hieu than kinh kha da dang: huy hoai
tam than, noi kho, cac chi yeu va cufng, hoi chufng bo thap,
co giat co. Mot so trieu chufng mat duoc neu len nhu rung
giat nhan cau, liet van nhan, chenh lech dong tu.

Hoi chUng nay thay d ngUOi lOn va doi khi co nguon

gdc gia dinh.

156. C R E V E LD (Van)

(Xem ELLIS - CREVELD)

157. C R E Y X - L E V Y (Hoi chufng)

Hoi chUng Ua nude mat - nude mieng tUng luc (syndrome

d’ophtalmo - stomatohygrose intermittente) cua Creyx va
Levy phoi hop mot chay nUOc mui thai qua hoac chay nUOc
mdt vOi dau nhtic mat va cd dU doi.

Cd the cd ca t&ng tiet nude bot. Trifu chUng hoc cua

hoi chtfng nay cd ve nhu trdi ngUOc vdi hoi chtfng Gougerot
* Sjogren. Thudng cd nhtfng hinh anh bat binh thuong ve

116
X quang cot song co, nhtfng ton thtfcfng htf khdp va voi
hoa, lam cho hoi chufng co ve nhtf gan gui vdi hoi chtfng
Barre - Lieou

158. C R O U Z O N (Benh)

Loan phat xircfng so - mat (Crouzon, 1912) la mot benh

di truyen va gia dinh, truyen theo kieu troi autosom. Tap
hop di dang nay la do stf dinh l i l n khdp qua sdm cua
xtfcfng so va xtfcfng mat, thuoc vao nhom rong ldn v l chtfng
so hep (craniostenose).

1. Di d an g so: Thtfcfng tao ra di dang nhtf cuc btfdu d

xtfong tran. Cdn co nhtfng dang hep so khac nhtf ngdn dau,
nhon dau, diu hinh thuyen hoac dau hinh tam gidc.
2. Di dang xtfctag mSt: Tao ra mQt bo mat ky qudi
hoac rdt xau do nhtfoc sdn cAc xtfong h&m tren. TCr dd din
den tinh trang hoc mdt bi ngdn chieu s£u, 16m cho 2 mdt
cdch xa nhau qua, vom mieng hinh cung nhon, h^m dtfdi
nho ra tao nen mot "bo mSt nhdi" (facias de grenouille).
3. Trip u chtfng of mdt. Luc n&o cung co va can phai
phdt hien. Chu yeu la loi mdt rat ro, lam cho trong mQt
so' trtfdng hop nhan cau thtfc stf bi ddy ra phia trtfdc.
ThtfOng co kem theo lac ra ngoai.

Hep so con g£y hau qua den dfiy th in kinh thi; trtfdc
he't la phu gai roi teo gai va rung giat nhan cau; nhtfng
ton thtfong nay doi hoi phai phdu thuat de lam giam ap
ltfc cho hop so. Doi khi benh Crouzon gay nhtfng trieu
chtfng ve than kinh nhtf dong kinh, tri don tam than. Tuy
nhi6n benh nhan thtfdng v in cd the sdng cuqc song binh
thtfcfng.

117
 159. C R O U ZO N

(Xem APERT - CROUZON)

160. CR OW E (Dau hieu)

Khi bi chtfng huyet khdi (thrombose) d xoang hang neu ta

de v&o tinh mach canh trong of cd ben phia ddi lap v i soi
day m it se thay he thong tinh mach gian ra, nhung neu dfc
vao tinh mach canh d ben phia bi ton thtfcfng thi khong thiy
gi xay ra (dau hieu Crowe hodc dau hieu Fleischmann).

161. C U SH IN G (Hpi chUng)

Hoi chtfng quen biet nay dtfoc Cushing md ta nSra 1932.
chu yeu xay ra d ngudi tre va ntf gidi. Thtfc the giai phau
cua hQi chung thudng la mot u tuyen yen Ua base vdi kich
thudc nho. Can chu y la doi khi khong thay mot u tuyen
yen nao ma van cd tinh trang cudng nang hoat dong cua
vd thtftfng than.
Beo phi. d mat va than ngudi la mot trong nhtfng trieu
chtfng chinh, cd kem theo nhtfng vet ran, ram long vdi suy
giam hoat dong sinh dye.
Rat hay thay co tang huyet ap cung nhtf tang hong cau
va tang dtfdng huyft. Thtfdng khong thay cac dau hieu d
mat do ton thtfang giao thoa(ban manh 2 thai dtfongs. trtf
khi cd them mot u tuyen yen thuoc loai khac, ching han
loai ky mau. Cac trieu chtfng p vong mac gin lien vdi tang
huyet ap. nhtf viem vong mac co th it mach the hien tac
dong cua hoi chtfng den he mach toan than. Vdi mot quan
niem khac, Kestenbaum cho rin g trong nhtfng tdn thtfong
giao thoa, thi trtfdng ban manh phoi hop vdi teo thi than
kinh cung dang dtfoc goi la hoi chtfng Cushing.

118
 D
162. D A L T O N (Di tat)

Di tat bam sinh ve sSc giac nay la mot su roi loan nhan
thtfc mau sdc vdi dac di em la khong nhan thtfc dtfoc mot
mau c0 ban, nhu mau do chdng han. Do vay stf mu mau
do (protanopie) hoac di tat "Dalton" la stf khong nhin thay
thanh phan mau do. Quang phd anh sang toi da chuyen
dich ve phia cdc s6ng ngdn. Cac test khac nhau ve nghien
curu thi giac mau cho phdp ta chan dodn ra tat roi loan
mau sdc bdm sinh ndy (xem di tat Hart, Nagel vd Rayleigh).

163. D A L R Y M P L E (Dd'u hieu)

Dau hieu Dalrymple (1852) th i hien stf co rut mi tren

trong loi mdt tuyen giap. Khi nghl ngcfi, khe mi hd r§ng
ra vi mi tren co rut de lo ria gidc - cung mac vd mot dai
cung mac. O gdc trong mdt co rut nhieu hcfn. Cdi nhin cua
nguOi benh c6 ve nhu so hai hodc ngac nhien.

164. D A N IS

(Xem COPPEZ - DANIS)

165. D AN IS

(Xem MEADER - DANIS)

166. D AN LO S

(Xem EHLERS - DANLOS)

119
 167. D A R IE R (Benh)
Chufng loan sting nang (Darier, 1889) 14 mot benh ngoii
da bieu hien bang nhufng mun loi sting miu xim nhat tap
trung thanh d im d vung tiet ba nhdn, c6 phoi hcfp hoic
khong vdi mot tinh trang sting hda d gan b in tay bin
chan. B$nh cd the di truyen theo kilu autosom binh thudng.
Doi khi benh lan ca d£n vung da mi m£t, nhat l i mi tren.
Cung cd ndi den ton thtfctag d vung bd mi, cic viem k£t
mac hoic viem giic mac nong. Ngudi ta da cong b6 nhufng
due the thuy tinh cd md due d bao trudc theo hinh cii
khien (en bouclier) n&m trong khuon khd nhtfng due thi
thuy tinh cua chtfng dinh da (cataracte syndermatosique)

168. D A R IE R (Gia budu vin g din hoi)

(Xem GROENBLAD - STRANDBERG)

169. D A R L IN G (Benh)
Benh Darling hoic benh nam histoplasma l i mot benh
nam vi mo ton tai d trang th ii dich dia phuong trong mot
so vung (My, Xenegan).
Ton thuong d m it chu yeu l i viem hie - vong mac, nhat
l i d vung hoing diem v i viem m ing bd dio dang u hat.
Qu£re v i cong su cd b io cio mot trudng hop sung tay
vung mi - hoc m i t co ro da d mot trUOng hop nam
histoplasma lan ra toan than.

170. D A Y
(Xem RILEY - DAY)

171. D EB R E

(Xem TONI (DE), DEBRE VA FANCONI)

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 172. DECH AUM E

(Xem BONNET (P). DECHAUME VA BLANC)

173. DEGOS (Benh)

Dupe Degos va c o n g stf mo ta ti mi nam 1942. benh

dang so va hi em hoi ma can nguyen van chtfa ro nay la
mot hoi chufng da - noi tang xay ra a ngtfdi tre.
- Dau hieu d da la phat ban toa lan dudi dang khong
co trieu chUng (d’allure asymptomatique); day la nhung not
san nho phan tan d ma t da than ngudi, d dau cac chi, co
xu the lom sau xuong thanh mot trung tam mau sang,
trdng nhu sU. Bd c6c ton thuong d da co dang phinh gian
mao mach.
- Tdn thuong d ruQt xu&'t hien m<?t c6ch ddng so vi sau
v6i ba thdng ho£c v6i ba nSm se gfiy ra thung ruot vdi
viem phuc mac chet ngudi.
- Ton thuong d mdt duoc ndi den nhiiu 16:
. nhUng not sdn da mi
. nhufng phinh mach rfi't nho d k§'t mac
. ton thuong teo hdc - vdng mac do nhoi mdu d mao mach
. nhutag vung vo mach d thuong cung mac.
Con cd the thay nhtfng dau hieu khac cd lien quan vdi
ton thuong he than kinh nhu liet van nhan, phu hoac teo
gai thi.

174. D E J E A N (HQi chtfng)

C6n dtfoc biet dudi c6i ten goi 16 hoi chtfng san hdc
mdt, xdy ra trong qua trinh diln bi£'n cua mot so u hoc

121
mat vdi cac trieu chufng chu yeu gom cd loi mat phoi hop
vdi dau nhufc than kinh va te bi da thuoc pham vi cua day
than kinh ham tren

Hoi churng nay tuong tfng vdi ton thtfong ciia nhanh thtf
2 day sinh ba, nhanh nay di vao hoc mat qua khe budm -
ham roi di doc theo san hdc mat va troi ra d ngang lo
dudi - hdc mat.

175. D EJEAN VA TE M P L E (Viem ket mac)

Loai viem ket mac nay dtfoc cdc tdc gia mo ta nftm
1933. tuong Ung vdi mot the 16m sdng viem ket mac c6
hot; tien trien theo kieu ban cap va gom nhtfng not due
trflng dng anh tu tap lai. Cd nhieu a ket mac mi. nhat la
mi dtfdi; tien trien keo dai va chdng lai cac phtfong phap
t n lieu, nhtfng roi khoi ma khong de lai di chtfng gi. Khong
thay ro mot tac nhan gay benh nao.

176. D EJER IN E - K LU M P K E (Liet rl than kinh)

Nam 1885, co Klumpke, ngtfOi vo ttfong lai cua Dejerine.

da nghien ctfu mot cach xuat sac benh liet re dam roi than
kinh canh tay kieu phia dtfdi, vdi cac trieu chtfng rieng
biet ttfong tfng vdi tdn thtfong re cac day than kinh cd thtf
7, thtf 8 va song ltfng thtf nhat.

Liet cac co be cua ban tay, tao ra bai liet day than kinh
gitfa va tru.

Ndi bat la teo cac co ban tay. Vd sau, xuat hien tu the
co tru (griffe cubitale). Ngoai stf triet tieu hoac giam cac
phan xa tram - quay (stylo - radial), ba dau, tru - sap

122
(eubito - pronateur) thi con mat hoac giam cam giac doc
theo mat trong cua ban tay va cang tay.
Sau cung, mot dau hieu rat dac biet cua the lam sang nay
la cac trieu chiifng cua dong ttf cimg ben, tao ra hoi chtfng
Claude - Bernard - Horner vdi lom mat va khe mi thu hep.

177. D E J E R IN E - R O U SSY (Hoi chtfng doi nao)

Hoi chtfng than kinh nay ttfong tfng vdi mot ton thtfong
ciia doi nao (thalamus) va cac vung ke can (xuat huyet
hoac nhuy ln nao d vung chi phoi bdi cuong d ong mach doi
- goi xuat phat ttf d ong mach nao sau).

Trieu chtfng gom chu yeu la nhtfng roi loan cam giac, dau
dtf doi doi khi trcf thanh kich phat d cac chi, kho khu tru d
dau. Thay co mat cam giac ntfa than d sau vd nong vung doi
xtfng vdi ton thtfong nhtfhg nhan thtfc ve do vat (sens ste-
reognosique) vdn nguyen lanh. Them vao nhtfng trieu chtfng
dau ddn va roi loan cam gidc nay, doi khi con co nhtfng dau
hieu ve van dong (liet nhe ntfa ngtfOi) va mot ntfa hoi chtfng
the van (mua giat ntfa thdn, mua vdn ntfa than).

Tuy theo stf lan rong cua ton thtfong, c6 th i c6 nhtfng

dau hieu d mdt nhtfng khong thtfdng xuyen nhtf ban manh
dong danh phia ben, doi khi chenh lech dong tuf, phia tdn
thtfong dong ttf thu nho.

178. D E JE R IN E - SO TTAS

(Viem day than kinh phi dai)

Benh viem day than kinh ke phi dai Dejerine vd Sottas

la mot ton thtfong than kinh d ngtfdi tre, co tinh gia dinh
vd truyen theo ki§u troi autosom.

123
 Trieu chtfng hoc gom nhtfng dau hieu cua v i em nhieu
day than kinh vdi liet nhe, teo ccr, roi loan c am giac cac
dau chi va mat dieu hoa gia Tabet.

Scr n3n thay cac goc day than kinh phi dai. doi khi kha
to, nhan, deu, ran. khong dau, va hiem khi thay co not.

Chan doan dtfa vao sinh thiet mot day than kinh nong,
cho thay tang sinh te bao Schwann cuon vao nhau nhtf
kieu cu hanh tay.

Co nhufng tri?u chtfng mdt phoi hop vdi benh thoai hda
nay, tao ra dau hieu Argyll - Robertson, lam cho them kho
khan viec chan doan phan biet vOi benh Tabet. NgtfOi ta
cung co ndi tdi nhiifng ton thtfong cua day thdn kinh nhtf
viem thi than kinh va teo.

Hoi chtfng than kinh nay tien trien tuan ttf va rat cham.

179. D EN N Y - BR O W N (Hoi chtfng)

Con dtfoc Radovici - Lasco mo ta day du, hoi chtfng nay

ttfong tfng voi chtfng liet ntfa ngtfOi mat - bo thap giao ben,
dac hieu cua chtfng huyet khoi dong mach canh trong.

- Hoi chtfng than kinh g o m co liet ntfa ngtfOi trong 80%

cac trtfOng hop; doi khi chi liet nhe ntfa ngtfOi. C& mat
ngon ngti neu bi ton thtfong o nao ben trai. D o n g kinh
cung dtfoc neu len.

- Hoi chtfng mat: ttfng luc bi mu cung phia vdi ton

thtfong, ttfc la doi xtfng vdi phia ben liet ntfa ngtfdi <hoi
chtfng giao ben mdt). Doi khi cd ban manh tam thOi hoac
mu thtfc stf mot mdt. Soi day mdt thay co teo thi than
kinh hoan toan hoac mot phdn vdi doi khi cd nhtfng dau

124
hifMi co that mach vong mac. Ngtfdi ta co neu Ion nhtfng
dau hieu d o ng ttf (thu nho) va Hot van nhan t ron" trtfdng
hop ton thtfcmg nao lan rong. Chan doan khang dinh dtfa
vao kham lam sang dong mach canh, chu yeu la do huyet
ap cua mdt (ophtal modynamometri e) (giam huyet ap mat
trung binh o' thi tam thu) va chup dong mach canh.

180. D ER CUM (Benh)

Benh nay con goi la benh u md doi xtfng (lipomatose

symetrique), benh loan dudng md tuan tien hoac benh u
md dau nhufc, bieu hien bang stf phat trien mo te bao md
dtfdi da, trai ra mot cach tan man hoac ttfng dam doi xtfng
nhau. Them vao con co dau nhufc.

Hoi chtfng beo phe nay co the trung hdp vdi mot hoi
chufng giao thoa do u tuyen tfa base.

181. D ETR O IT

(Xem FRANCOIS.J - DETROIT)

182. D EV IC (Benh)

Nam 1884, Devic (d Lyon, Phap) da nghien ctfu benh

viem tuy - thi than kinh cap. Benh khd hiem ma ve nguyen
nhan cdn nhieu bi an (do nhiim khuan, nhiim virus hay
cac nguyen nhan khac).

Chu yeu ngtfdi tre hay bi. Trieu chtfng cd dac diem la phoi
hdp mot viem thi than kinh cap vdi mot hoi chtfng tuy.

- Trieu chtfng d mat la mot viem thi than kinh noi bat
len trong benh canh lam sang va thtfcfng hay dau nhtfc.
Thtfdng ca hai mdt bi, nhtfng khdi phat co the d mot ben

125
trtfdc. Thi ltfc giam nghiem trong, doi khi mu hoan toan
nhtfng co xu the phuc hoi dan sau it ngay, it nhat cung
phuc hoi mot phan.
Soi day mat thay nhieu ve khac nhau; thtfdng- hav thav
gai thj ftinh thtfdng, tao ra mot viem thj than kinh ki§u h$u
nhan diu. Trong nhtfng trtfdng hop khac, gai bj phu ne. sung
huyet va cd chay mau ben canh (viem gai thi phu ne).

Thi trtfdng khd lay. Day mat cd the khong can xtfng, mot
ben thi viem gai, con ben kia thi viem thi than kinh hau
nhan cau; rung giat nhan cau va gian dong tuf cung co duoc
ndi tdi. Co van nhan ngoai lai thtfdng nguyen ven, tuy nhien
cung co ngtfdi noi 1ft liet day t h i n kinh III, IV v& VT

- Theo nguyen tflc thi trieu chtfng tuy xuat hien sau
viem thj than kinh; liet nheo 2 chi dtfdi, kem theo cac dau
hieu roi loan cam giac va co that. Co the liet ca 4 chi theo
kieu di len. Mac dau cd mot vai dau hieu m a n g nao, djch
nao - tuy van gan nhtf binh thtfdng; ddi khi thay cd tang
albumin djch nao - tuy va phan tfng te bao l ympho

- Tien trien rat khac biet nhau; cd nhtfng the be nh dan

den ttf vong sau it ngay. Thtfdng thi cac trieu chtfng ve thj
giac va tuy se phuc hoi mot cach chain chap; cd the de lai
di chtfng teo thj than kinh mot phan hoac hoan toan Chan
doan phan biet vdi benh xa ctfng rai rac doi khi kho

183. DEVIC - BUSSY - G AR D N ER (Hoi chtfngt

Benh nay rat hiein thay (Devic va Bussy 1912, Gardner

1953), xay ra d ngtfOi tre ca nam va ntf; truyen theo kieu troi

Bo 3 trieu chtfng thtfc thu la:

126
 1. N h i e u p o l y p trtfc - k e t t r a n g , lam cho hoi chufng
nang vi dan den thoai hoa ung thu\ Can phat hien mot
cach co he thong (Bregeat va Ilamard) bang soi rriic trang
va chup X quang khung ket trang.
2. Nhieu u nang ba nhofn o da cac chi, than mmh va mat.

3. T a n g sinh mo lien k e t (nguon gdc trung bi). bieu

hien lam sang da dang; nhieu lipom d dudi da. u co lu cd
trcrn) trong bung, u xa trong ma n g bung cd kha nang gay
ra nhtfng hien tugng chen ep. Sau cung la nhtfng xu huang
dac hieu cua benh.

Trieu chtfng d mat chu yeu la ldi nhan c iu do u xtfang

thtfdng khu tru a xtfang tran. Chan doan u xtfang d i dang
b ang X quang va chup d ong mach se cho thay ro hau qua
ciia u xtfang ddi vdi cac bo phan trong nhan cau va quanh
nhan cau.

184. D IM M E R (Vi em giac mac hinh dong tien)

T e n goi nay de chi mot loai v i em giac mac nong cd the

do virus. Nhtfng o vi em giac mac dong tien kha ldn, tron
va khu tru of trung tam giac mac ldp nong. Thtfdng nhtfng
chd md due go m nhtfng cham nho xam rat tinh vi, khong
gay phan tfng viem cung nhtf k hong gay ra tan mach. Khoi
benh sau mot thdi gian kha lau.

185. D IM M E R

(xem HAAB - DI MMER)

186. D O H N A (U L L R IC H - FR E M E R E Y)

(Xem F RANCOIS J. L O AN S A N X U ON G d AU)

127
 187. DOYNE (Thoai hoa ho a ng di em)

Nam 1889. Dovne co neu mot so triidng hdp gin dinh

bi benh thoai hda vong mac trung tam theo kieu tang to
ong" (Honeycomb).

Loai thoai hoa hoang diem nay co tinh gia dinh. di

truyen va bieu hien ra d tuoi trudng thanh. Soi ddy mat
thay thoai hoa dang keo, nhat la vung quanh hoang diem
dtfdi dang nhiirng cham mau vang, I6i, ep vao nhau nhu cac
o kham (mosaique), trong giong nhu cdc tdng to ong. Thi
lire gicr ducrc khd lau nhung se giam ddn neu co xuat huyet
va teo dr trung tam vong mac, de lo ca hdc mac.

188. DO YNE (Viem m on g mat guttatai

Tii do chi nhtfng ket tua thanh cuc mau xam nhat. dang
fibrin, nam d be mat mong mdt trong cac viem cua ban
phan trtfdc nhan cau (viem giac mac noi mo, viem mong
mat - the mi,v.v...)

189. D U AN E

(Xem TURK - STILLING - DUANE)

190. D U H R IN G - B R O C K (Benh)

Benh v i em da dang herpes hoac be nh Duhring - Brock

thuoc cac benh da co bong ntfdc da ng pemphigut Benh
hiem thay. Co dac diem la len ban da dang, rat ngtfa:
nhung vet dat, mun nho hoac mun nude moe thanh tung
dam tren mot mat da ban do. Mun nude khu tru a da. dtfdi
ldp bieu mo, tien trien tUng dot tai phat c£ch quang Ni em
mac khong bi hoac it bi dung chain va the trang thudng

128
la lot. Trai voi benh pemphigut that, d day thudng khong
thav cd dau lucu Nicolskv.
Ton hai <f mat it xav ra hon trong bonh pomphigut that;
tuy nhien ngoai nhung cho ldn ban o' mi, ngUcn ta con thay
nhung tdn thuong ket mac cd the dan den nhUng not mun
nUdc, cung dd bi co rut, tUng dam mong dinh va khd mat.
Luc b a y gid se xay ra to n thuong d giac mac, nhung mun
nUdc d bieu md, lo et va m d due, se o giac mac. Luc nay da
hinh thanh benh c a n h lam s a n g ciia pemphigut a mat.

191. D U P U Y - D U TE M P S (Dau hieu I

Dau hieu Dupuy - Dutemps (1903), n&m trong trieu

churng d mi cua liet day than kinh mat ngoai bien. Khi
benh nhan nhin xuong, bao ho nham mdt lai thi mi liet
se len cao mot cach khac thudng.

192. D U P U Y T R E N (Benh)

Mot so tac gia co neu len rang trong benh Dupuytren

hoac benh co rut can gan ban tay co the kem theo nhtfng
ton hai d mat nhu viem giac mac hinh dai bang, can thi
va bong vong mac.

129
 E

193. EALES (Benh)

Dirge Eales mo ta nam 1889, benh nay la mot hoi churng
tap hgp n h i i u benh co can nguyen khac nhau, nhung cung
mot yeu to chung la kha nSng xuat huyet tdi phat d dich
kinh. Xuat huyet do vo nhieu tan mao mach la diem ddc
trung cua benh vd do chay mdu nhUng mach mdu ldn it nhieu
bi t5c nghen. Benh dtfgc biet dudi cdi t&n goi IS xuat huvet
tai dien vong mac - dich kinh O ngtfOi tre va thuoc vao nhom
rat rong ciia nhUng viem quanh tinh mach vong mac.

Benh hay thay d nam gidi vao khoang tU 15 den 40

tuoi. It khi benh khdi phat mot cach t u i n tien ma thudng
la nhanh va tUc khac co cam giac nhu mdt nhin qua sUOng
mu. T ro ng nhUng the benh nang, chi con nhan thUc hudng
chieu sang.

K ha m mdt co the thay m ot day mdt hoan toan toi do

xuat huyet toan bo. Ve sau xuat hien cdc ton thuong viem
quanh tinh mach dudi dang nhtfng doan vo day mau trang
nhat dgc cac tinh mach cd k em theo nhtfng o phu ne trang
dinh lien vao thanh mach.

Soi ddy mdt ben kia thtfdng thay nhtfng ton thtfong nho.
Be nh tien trien den ch6 tieu mdu nhtfng xu the chu veu
cua b e nh la tdi di i n , lam cho benh n ang them; mat khac.
mdt thtf 2 cung co nhtfng bieu hi e n lam sdng.

130
 Ve sau, xuat hien cac bien chufng lain cho thi ltfc giam
vmh vien, lan ra nhtfng tan mach trtfdc vong mac va viem
vo ng mac tang sinh lam hon loan vong mac.

Benh Eales la mot hoi chtfng thtfc stf co nhieu nguyen

nhan rat khac nhau, nhtf lao, giang mai, benh Besnier
Boeck - Schaumann, cac o nhiem khuan, benh virus, benh
ky sinh trung,v.v... Vi vay co ve nhtf day la mot phan tfng
di tfng cua vong mac doi vdi nhtfng stf tan cong khac nhau.
Stf xuat hien ciia phtftfng phap quang dong cho phep thtfc
hien viec dieu tri va dtf p ho ng cac o viem quanh tinh mach.

194. E B S T E IN (Benh)

Benh tim bam sinh nay co dac diem la nhtfng chd bam
cua van ba la dich xuong thap, bam mot cach bat thtfdng
vao thanh cua tam that phai. Vi vay ma ltfu ltftfng tudn
hoan phoi bi giam do tam that phai khong phat trien day
dii va thtfdng thay co thong lien nhl. Benh gay ra tim tai,
mot phan nao tim to va chtfng t&ng hong cau. Tien trien
dang so. Viallefont va Boudet co neu mot trtfdng hcfp huyet
khoi tinh mach vong mac 2 mat ma nguyen nhan co the la
do tf dong tinh mach bdi suy tim ben phai va t&ng hong cau.

195. E C O N O M O (Von)

(Xem PARKINSON)

196. E H L E R S - D AN LO S (Benh)

Con goi la nhao khdp bam sinh, xa loan san tang dan
hoi (fibrodysplasie hyperelastique), benh nay co the truyen

131
theo kieu troi binh thuong, nhtfng co nhieu trtfdng hup ddn
phat.
Trieu chtfng co dac di em la tang dan hoi bam sinh cua
da ma da thi rat mong manh, co nhtfng cho bam mau chan
thtfong kho lam seo. Dong thOi co stf tang nhao cac day chang
khdp, co the d4n den trat khdp tai phat (ngtfdi "cao su").

Ve mat, benh nay co the gay ra stf tang nhao nghiem

trong d mi, mi tren rat di bi Ion ma chi can k£o da mi
len tren cung du gay ra (dau hieu Metenier, 1939). Vi vay
ma hay thay co Ion bd mi, da mi co nep quat (6picanthus)
va nhieu nep gap.

Con phoi hop vdi nhieu ton thtfong khac 0 mat bieu hien
ton hai cua mo dan hoi va trung bi nhan cau nhtf giac mac
hinh chop, gian cung mac, due the thuy tinh bam sinh va sa
lech, nhtfng dtfdng van mach mau (stries angj cides).

197. EH R L IC H - T U R C K (Dtfdng)

Soi sinh hien vi thay duoc dtfdng nay thong thtfdng theo
chieu dtfng. Do la nhtfng chat ket tua cua viem mang
Descemet, d mat sau giac mac, xay ra trong viem mang
bo dao phan trtfdc nhan cau.

Ve sau, chat ket tua bo tri theo hinh con thoi. hoac
hinh tam giac, dinh d trung tam giac mac la bieu hien
tang ket tua sau giac mac.

198. ELL IS - C R E V E L D (VAN ) (Hoi chtfng)

Hoi chtfng da di dang nay ttfong tfng vdi mot loan sdn
sun trung bi, co the truyen theo kieu lep.

132
 Loan dtfdng sun chu yeu la d cac dau chi, nhat la d
ca ng chan, va gay ra chufng lun Cd phoi hop nhufng di
da ng khac nhu nhieu ngdn, di dang mong, toe. rang va
benh tim bam sinh. Cd neu len (long kinh va tri don tam
than.

Trieu chdng d mat dtfoc y van ndi den la due the thuy
tinh bam sinh hoac v ong sftc to quanh gai thi.

199. E L S C H IN G (Hat chau: perles)

Hat chau Elschning (1911) tuong ung vdi nhufng tang sinh
bieu mo trtfdc trong nhtfng trtfdng hop eon tdn san cua bao
the thuy tinh (due T3 chan thtfong, due T3 thtf phat).

Soi sinh hien vi thay co nhtfng hat chau due Id nhd

gio'ng nhtf trtfng ca, hodc nhtf nhtfng chum nho qua nho, of
dien dong ttf va co the ra ca tien phong.

200. E N G E L M A N

(Xem CAMURATI - EXGELMAN)

201. E N R O T H (Dau hieu)

Dau hieu nay gdp trong benh ctfOng tuyen gidp, ttfong
tfng vdi mot phu ne mi bdt dau, xda lap ranh hoc mdt -
mi tren va lan xuong ca mi dtfdi. Manh hon ntfa se xuat
hien loi nhan cau phu.

202. ER B - G O LD FLA M (Nhtfoc co)

Dtfcfc Erb (1879) roi Goldflam (1883) nghien ctfu, benh
nay cd dac diem la co suy nhtfcrc mot cach bat thtfdng. Dd
la stf roi loan chuyen dat than kinh - co (transmission
neuro - musculaire) d ban van dong (plaque motrice).

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 Benh hay xay ra o gidi nut khoang gitfa 20 va 30 tuoi
nhtfng co the bat ctf a tuoi nao. Tuy da co thay nhtfng
trtfdng hop gia dinh, nhtfng van khong xac dinh dtfdc tinh
di truyen dac biet nao.
Moi met co la trieu chtfng chii yeu. Mdi dau xuat hien
vao buoi chieu, khi ngtfdi met mdi, va nhanh chdng tien
den tinh trang khong the lam lai ldn thtf hai mot dong
tac nao dd. Nhtfdc co nay rat thay doi, ttfng ngay va ttfng
luc; tien trien mot cdch bat thtfdng. Prostigmin 16m giam
hoac 16m mat stf met mdi, trong khi dd thi curare lai lam
nang them.
Dau hieu d mMt rat hay g6p, v6 cd the’ no md diu cho
benh. Sup mi 0 mot mat hoac ca hai ben, xay ra rat sdm
va thay doi trong ngay. Lam thtf nghiem bang prostigmin
(tiem tinh mach ttf 0,5 den 1 mg) se thay sup mi tam thai
giam bdt trong choc lat. Co vong cung mi cung bi, cho nen
khi cd md mat thi no khong chong lai may. Liet cac co van
nhan ngoai lai doi khi tao ra mot liet van nhan toan bd do
ton thtfong cac co. Van dong mong mat van binh thtfdng

Lam dien co do cho thay gi am bien do cac t iem ltfc hoat

dong, dtfdng ghi a dien the thap va tieu mon ddn vdi stf
met mdi, nhtfng dtfdc phuc hoi vdi prostigmin.

Cac trieu chtfng d mat tien trien trong benh canh chung
toan than cua benh nhtf roi loan phat am, roi loan nhai.
nuot, di lai kho khan va tho met.

Sau cung, nen chu y den moi lien he gitfa benh vdi phi
dai tuyen tfc (thymus) ma cd the giai quyet bang phau
thuat dtfdc.

134
 Benh tion trien chain, ngdt quang ttfng luc giam hoac
t t hem.

203. E S P IL D O R A - LUQUE (Hoi chufng)

Hoi chufng 0 mdt cua khe Sylvius vdi dac diem la mil
(do tdc dong mach mdt) va liet mifa ngudi phia thai duong
ben ddi xtfng vdi ton thuong do co that phan Ung dong
mach Sylvius.

204. E W IN G (Saccom)
Dudi cai ten nay, ngudi ta con den nhung saccom li/di cua
xuong, thay d tre em va thanh nien. U xuong nay thudng
dau, loi va co sot kem theo. Chup X quang cho thay dac biet
nhtfng hinh anh ke doc dai song song vdfi true cua xtfcmg.

Loai u hiem thay nay co the khu tru cr hoc mat va gay
ra mot loi mdt do khoi u. Chup X quang khong the phan
biet dtftfc vdi nhtfng u xtftfng tdn tao khac. Chan doan bang
sinh thiet va xet nghiem mo hoc. Dau cho mdi dau u nhay
vdi tia xa, loai saccom Ewing vdn tien den ttf vong trong
thdi gian ngdn.

135
 F

205. FABRY (Benh)

Dtfdi cai ten angi okeratoma corporis diffusum, nam
1S98, Fabry mo ta ve mot benh ciia da. Ngay nay, ngtfdi
ta biet benh nay co ve do mot stf roi loan bam sinh ve
chuyen hoa glycolipid gay ra thtfc stf benh tich lipid mo
ltfdi (thesaurismose tissulaire). Benh Fabry 16 do stf thi£u
hut enzym ve chat xeramit trihexosidaza, ttf do lam roi loan
chuyen hoa globosit. Benh thuoc nhom cac u than kinh md
(neurolipidoses) vdi xu the hudng ve mach mau. Hoi chtfng
nay di truyen theo kieu lep cd lien quan vdi gidi tinh

Trieu chtfng chii yeu la d da. Ngay trong nhtfng nam

dau ciia tre da xuat nhtfng vet cham hoac nhtfng not san.
thtfc stf la nhtfng not ban mach cua da (eruptions vascu-
laires) mau do - tim, hoi noi len, bang dau kim gam Co
nhieu d bung, dui, vung m o n g va biu dai.
Thtfdng cd nhtfng con dd dau dau chi (crises
erythromelalgiques), kem t heo sot ra md hoi, dau bung,
lach va gan to. Dang scf la suy than dan dan vdi albumin
nieu xuat hien ttf ltfa tuoi thanh nien va gay ttf vong vao
k hoang tuoi 50. Ngtfdi ta cd neu len nhtfng tai bien mach
mau nao. Trieu chtfng d mat kha phong phu va dac trung
(90% so trtfdng hop).
- Loan dtfdng giac mac, chi soi sinh hien vi mOi thay
mot v i em giac mac nong, dtfdi ldp bieu md, nhtf kieu xoay

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loc, hinh nhir xuat phat tii mot, diem o' dudi trung tam giac
mac Xet nghi em mo hoc cho biet te bao bieu mo tang
sinh va phong m o n g len.
- (f ket mac, thudng thav mach mau gian nd khong deu
vdi nhufng phinh mao mach to nho khac nhau.
- Due the thuy tinh cung dtfdc neu len (dam due cac
dudng khdp noi sau va trtfdc T3).
- Soi day mat cd the thay ro nhufng cho gian phinh tinh
mach, doi khi la nhufng phinh dong mach rat be kem theo
phu vong ma c va gai thi.
Benh nay la bieu hien lam sang cua roi loan chuyen
hoa lipid (tich lipid mo ludi), duoc xac dinh bang sinh thiet
te bao va tuy do.

206. FA LLO T (TU chUng)

TU chUng Fallot chi mot benh tim bam sinh "benh xanh"
(maladie bleue) co ket hop vdi hep dong mach phoi (phlu),
thong lien that, dong mach chu lech sang phai va phi dai
tam that phai.
Dau hieu mat duoc mo ta tuong Ung vdi mot tim tai ket mac
va cimg do. Co mot so di dang phoi hop duoc neu len (Collier)
nhu di dang mdt - mat, di dang dong tuf, dau hinh thap, khoang
cach hai mdt qua rong, nep quat goc mi, khe mi phia trong
xech nguoc len, hdi chufng loan san xuong dau Francois,v.v...
Cac di dang phoi hop nay gdi len mot hoi chUng cung
mang thU nhat ( l er arc branchial), phu hop vdi thdi diem
phoi thai cua cac di dang tim (giUa tuan thU 5 va tuan thU 8).

207. FAN CO N I (Hoi chUng)

Hoi chufng nay, di truyen theo kieu lep autosom, duoc
Fanconi mo ta nam 1927, phoi hop chii yeu mot thieu mau

137
bat sail (aplastique; vdi -nhieu di dang thtfc the noi tang,
di dang dau xtfcmg cac chi va ngon tay cai. Ngtfdi ta thay
co tri tre tri tue vdi dau be. cac dau vet a da. nhung cham
mau ca phe - stfa hoac lang trdng Cung co noi den nhan
cau be

208. FAN CO N I

(Xem TONI (de) - DEBRE VA FANCONI)

209. FAN CO N I

(Xem LIGNAC - FANCONI)

210. F A R B E R (Benh)

Benh u hat md toa lan Farber (1957) gi ong benh Tay -

Sachs bdi co tham lau lipid mo bao (histiocytairet Trong
benh nay, ngoai phu ne cac dau chi, ngtfdi ta con thay co
nhtfng roi loan ve ttf the va mot stf sa sut dan dan Cac
bieu hien d mat dtftfc neu len nhtf cham dd "anh dao hoang
diem, s4c to d vo ng mac trung tam va ca d chu bien

211. FAV A LO R O

(Viem noi mo giac mac va thoai hda noi moi)

Nam 1949, trong ban bao cao d Hoi nhan khoa Italia
ve sinh ly benh hoc ciia noi mo - Descemet. Favalorc xac
dinh stf khac nhau giufa:
- Cac viem noi mo giac mac, la roi loan cd tinh chat
viem (nhtf viem giac mac hinh dla do virus chang ham
- Vdi cac thoai hoa noi mo giac mac la nhtfng benh co tinh
chat thoai hoa (nhtf loan dtfdng noi mo Fuchs chang ham

138
 212. FAVRE (Thoai hoa dich kinh - vong mac)

Loai thoai hoa dich kinh - vong mac soi to to nay da

dtfdc Favre mo ta (19G1) d trong 2 gia dinh.

Ton thtfong dich kinh rat dac trtfng vdi nhtfng scfi to
ldn xoan xit vao nhau chay qua noi nay noi kia trong dich
kinh; cd nhieu k ho an g trdng va dich kinh long hoa gan
toan bo, phoi hop vdi bong dich kinh phan sau. Favre nhan
manh nhtfng cho dinh - hyaloit - vong mac t hem vao vdi
thoai hoa vong mac chu bien (thoai hoa u nang). Thoai
hoa dich kinh - vo ng mac Favre cd tinh di truyen theo
kieu lep autosom, gap d ngtfdi can thi cung nhtf khong can
thi. Can ltfu y den stf phoi hop vdi bong vong mac gia dinh.

213. FAVRE

(Xem N ICO LAS - FAVRE)

214. F E E R - SW IF T (Hoi chtfng)

Hoi chtfng nay duoc biet nhilu hon dtfdi cai ten benh
dau cac dau chi (acrodynie); benh cd th§ ttfong tfng vdi mot
ton thtfong cua he than kinh giao cam va chi phat sinh dr
tre nho khoang ttf 6 thang den 4 tuoi. Cdc roi loan ddu
chi rat dac trtfng: ban tay va bftn chan m&u do ttfcfi hoac
do tim, ra mo hoi nhieu, troc vay da nhe, doi khi co ca
loet loan dtfdng.

Vg than kinh, thtfdng cd roi loan tam than vdi xu htfdng

sa sut dan, mat ngu, va suy nhtfoc.

Trong cac trieu chtfng toan than thi tang huyet ap va

tim dap nhanh co gi£ tri chan doan ldn.

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 T h u o n g b e n h n h a n so a n h sang, nhtfng se khoi ma
k h o n g d e lai di c h iin g gi.

215. FEHR (Loan dtfdng giac mac)

Loan dtfdng giac mac Fehr (1904), con goi la loan dtfdng
Fleischer, loan dtfdng vet hoac Groenouw typ II, la mot
benh di truyen va gia dinh ciia giac mac, truyen theo kieu
lep autosom.

Benh khdi phat b&ng stf giam thi ltfc ngay ttf be. Soi
sinh hien vi cho thay nhtfng cham nho tu tap lai th&nh
mot mang che d&ng sau mang Bowman, di ttf trung tam
g i a c m a c d e n ria g i a c - c u n g m a c . V e s a u , c a c l d p a sau
c u n g bi t h a m la u c h o d e n c h u b ie n . T o n t h t f o n g k h u tr u d
t o a n b o d i e n t ic h v a c h i e u d a y c u a g i a c m a c B e m a t g ia c
m a c t r d t h a n h loi l o m k h o n g d e u . V e n g u y e n t& c th i k h o n g
c o t a n m a c h ; c a m g i a c g i a c m a c g i a m .

Ve mo hoc, cd ton thtfdng d cac mang ngan va nhu mo:

d d la nhtfng hat tu tap lai thanh not trong nhu mo hoac
rai rac gitfa cac la cua nhu mo hoac trong nguyen sinh
chat cua te bao bieu mo.

T i e n t r i e n c u a b e n h l a m th i ltfc g i a m d a n , c a c h q u a n g
c d ttfn g c d n d a u n h tfc d o xtfd c n d n g g i a c m a c G h e p g i a c
m a c la p h t f d n g p h a p d i e u tri n e n c h d n

216. F E IC H T IG E R

( X e m U L L R I C H - F E I C H T I G E R )

217. FEIL

(Xem KLIPPEL - FEIL)

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 218. FELD M AN

( X e m S A B I N - F E L D M A N )

219. FELTY ( H o i c h t fn g )

D t fg c F e l t y m o ta n a m 1 9 2 4 , h o i c h t fn g n a y ttfo n g ttf
n h tf b e n h S till; g o m n h t f n g d a u h i e u v i e m d a k h o p d a n g
t h a p k h d p p h o i h cfp v d i g i a m b a c h c a u , l a c h to v a s a c to
o' d a . T r i e u c h t f n g a m a t la n h tfn g b ie u h ie n c u a b e n h t h a p
k h d p g o m c d t o n th tfo'n g c iin g m a c , t o n t h t fo n g g ia c m a c ,
c o c a v i e m m a n g b o d a o ( x e m b e n h Still).

220. F IE S S IN G E R - L E R O Y - R EITER

(Xem REITER)

221. F IE S S IN G E R - R EN D U (Hoi chtfng)

NSm 1917, Fiessinger va Rendu da tao ra cai ten goi

benh ngoai bi trgt nhieu 16 (ectodermose erosive phuriori-
ficielle) bao gdm nhtfng the benh lam sang nam trong
khuon khd rat rong ciia cac ban do dich ri da dang
(erytheme exsudatif polymorphe).
Ve phtftfng dien mat, ngtfdi ta co the tap hap cac benh
canh lam sang mang nhieu ten khac nhau nhtf benh viem
da - mieng (hoi chtfng Baader), hoi chtfng niem mac - da
- mat Fuchs va nhat la hoi chtfng Stevens - Johnson (1922).
Ve trieu chtfng hoc, benh cd the khdi phat dot ngot, cd
sot va bieu hien chu yeu bdng san - do da hoac mun ntfdc
bong d niem mac mieng, mdi (viem mieng), mui, bo phan
sinh due (quy dau, ranh quy dau - bao, am dao, am ho).

Tdn thtfang d mat rat hay cd va ddng sa.

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 - Viem k e t mac co the 6 trang thai tiet rtf va xuat hien
sam, n h u n g doi khi co mu vdi phu mong ket mac va cd
t h e c d c a g ia m a c .

- Mi cd ndi mun d da roi loet cd vay, mau hoi den, xuat

huyet, bd mi se co rut lai.

Loet d giac mac mdi dau nong, sau fin sau, cd boi nhiim
va tan mach.

Trang thai di chUng ddng so la kho gi£c mac vdi cung

do ket mac seo co keo, mong dinh, long xieu, ho4n to&n
giong nhu di chUng cua bong nang nhan cau - mi m it.

O the benh efi'p tinh, co ton thtfong phoi v4 tieu ho6.

doi khi tii vong.

222. FISH ER (hoi chUng)

Hoi chUng duoc Fisher mo ta n&m 1956, ket hop l i e t

mftt, mat dieu hoa (ataxie) va mat phan xa. Tap chiing
nay cd ve nhu la mot the loai lam sang cua hoi chung
Guillain - Barre.

Trieu chUng than kinh gdm cd mat dieu hoa kieu tieu
nao vdi mat phan xa toan than va di cam nhieu noi
(paresthesies diverses). Khong co roi loan tam than cung
nhu suy nhuoc van dong cac chi. Xet nghiem dich nao t u v
cho thay cd phan ly albumin te bao. V i mat, cd song thi
do liet cac co van nhan ngoai lai, cd the liet toan bo, tru
huOng nhin xuong. Van dpng dong tii van con.

Hoi chUng th in kinh nfty, xuat hien dot ngot. cd xu

hudng m it di sau it tuan. Thudng gSp d ngUOi ldn co nhiem
benh dudng ho hap tren.

142
 2 2 3 . F L E IS C H E R ( D i r d n g )

F l e i s c h e r m o ta l a m s a n g ( 1 9 0 6 ) d u d n g n a y la m o t d a u
h i e u n h i n t h a y k h i soi s i n h h i e n vi; t h a y m o t d a i n h o m a u
x a m - v a n g , h i n h v o n g k h o n g h o a n c h i n h , a d a y cua ch op
t r o n g g i a c m a c h i n h c h o p

2 2 4 . F L E IS C H E R ( V i e m h a c m a c )

V i e m h S c m a c F l e i s c h e r b i e u h i e n a q u a n h gai thi, g a y
r a p h a n tfn g v i e m h a c - v o n g m a c q u a n h m o t g a i th i s u n g
h u y e t v a ctfo'ng tu ( t o n t h u o n g c a c m a c h m a u v o n g H a lle r ).
T i e n t r i e n v e s a u c o t h e d a n d e n loi g i a n n h a n c a u o' s a u

225. F L E IS C H E R

(Xem KAYSER - FLEISCHER)

226. F L E IS C H M A N N

(Xem CROWE)

227. F L E IS H E R (Due the thuy tinh)

(Xem STEINERT)

228. F O IX (Hoi chtfng)

Mot tap hap nhieu trieu chtfng bieu hien ton thucfng
cac nhan to than kinh d thanh ngoai xoang hang (Foix,
1920). Thuong do mot phinh dong mach canh, hoi chting
thanh ngoai xoang hang gom ton thuong cam giac cua vung
day than kinh sinh ba (day mat va day ham tren), liet
van nhan do ton thtftfng day than kinh III va IV. Tuy
nhien, do stf gan gui vdi day than kinh van nhan ngoai

143
va giao cam quanh dong mach canh nen con phoi hop them
liet day than kinh VI va cac trieu chufng giao cam

229. FOIX - H IL L E M A N D (Hoi churng)

Hoi chufng Foix - Hillemand la ton thuong cr ho ben

hanh nao. Benh canh lam sang la ciia mot hpi chUng
Wallenberg cuc bo:
- Hoi chUng nUa than tieu nao ben ton thuong.

- Mat cam giac nUa than kieu phan ly ben doi xUng vdi
ton thuong;
- Mat cam giac d mat ben ton thucmg (do tdn thuong
d a y t h a n k i n h s i n h ba ).

- Te liet man hau - vom mieng va thanh quan,

- H o i c h t f n g C l a u d e B e r n a r d - H o r n e r .

Cac trieu chtfng tren day la do ton thtfong cuc bo cuong

tieu nao dudi va ton thuong cac dtfdng cam giac va van dong,
co dung den ca cau tao ltfdi xam, nhan Id md (noyau ambigu)
va soi re cua cac day than kinh hon hop (nerfs mixtes).

230. FO IX

(Xem SCHILDER - FOIX)

231. FOLLIN G (Hoi chtfng)

Dtfoc Foiling mo ta nam 1934, hoi chtfng nay ttfong tfng

vdi chtfng tri don tam than phenylpyruvic do roi loan
chuyen hda phenylalanin.

Trieu chtfng phoi hop mot stf tri tre tam than vdi nhi
tinh, bach tang cuc bo, ddng kinh va cac trieu chtfng thuoc

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lo a i n g o a i t h a p . C a n lu'u y h a y t h a y c o t r ie u chiifng s o a n h
s a n g .

C h a n d o a n s i n h h o c dtfa v a o stf cd m a t t r o n g n tfd c tie u

c h a t p h e n y l a l a n m v a a c i d p h e n y l p y r u v i c .

232. F O R STE R ( V i e m h a c m a c )

V i e m h a c m a c t a n m a n F o r s t e r ( 1 8 7 4 ) c o c a n n g u y e n g i a n g
m a i h a u p h a t . B e n h a c a 2 mat v a g a y roi lo a n th i lu c t r u n g
t a m , n h i n v a t bi b i e n d a n g , t h i ltfc g i a m v a s o s a n g .

S o i d a y mat t h a y v i e m hac mac t a n m a n dtfoi d a n g

n h t f n g o m a u v a n g n h a t , doi khi q u a y q u a i l q u a n h c a c m a c h
mau. Due dich kinh doi khi nhieu, lam cho khong nhin
thay cac ton thtfcfng dang sau.
Trong mot so' trtfcfng hop, ngtfdi ta thay tiep theo sau
giai doan lam seo la mot gia benh vong mac sac to' voi
quang ga va am diem vong tron khi lam thi trtfcfng.

233. FO STE R - K E N N E D Y (Hoi chiing)

Duoc Foster - Kennedy nghien curu ky, hoi chtfng nay

ttfong tfng vdi teo thi than kinh nguyen phat do chen ep
phoi hcfp vdi phu gai thi mat ben kia do tang ap ltfc noi
so. Theo ban mo ta nguyen thuy cua hoi chtfng (1916) thi
con cd them stf mat khtfu giac, tao ra mot bo ba trieu
chtfng thtfc thu gom cd:
- Teo thi than kinh mot ben vdi am diem trung tam
nguyen phat do chen ep trtfc tiep vao thi than kinh;
- Mat khtfu giac cung phia do ton thtfong day than kinh
khtfu giac;
- Phu gai thi msit ben kia do tang ap ltfc noi so.

145
 N a m 1 9 6 5 . Venn da xac dinh day du gia tri ve trieu chung
h o c c u a hoi chiing nay ma v§ nguyen ly la do ton th uon g u
(u m a n g nao, u gliom) 0 phan trUdc cua ho nao giua.

Cai ten hoi chiifng Foster - Kennedy da duoc md rong

sang ca nhUng phoi hop giUa teo thi than kinh hoac viem
thi than kinh mot ben m^t vdi phu gai hoac viem gai d
mat ben kia (gia hoi chUng Foster - Kennedy co ngudn gdc
mach mau chdng han).

234. FO VILLE (H<?i chUng)

Hoi chUng Foville tuong Ung vdi nhUng ton thucmg cua
than nao bieu hien bang t6n hai cac ddng tie nhin ngang
cung ben vdi ton thuong nao phoi hop vdi liet ntfa ngudi
ben kia (hoi chUng giao ben).

Tuy nhien can phai phan biet ra 3 the lam sang cua
hoi chtfng Foville nhtf sau:

- Hpi chtfng cu on g nao F oville (typ I) do ton thtfong

d chom pham vao dtfdng thi giac - quay dau (voie oculo -
cephalogyre). Trong trtfdng hop nay, liet nhin ngang se
bat cheo (khong the nhin ve phia doi lap vdi tdn thuong),
liet mat va liet chi cung vay.

- Hoi chiing cau nao tren F oville (typ II) g o m co

. liet nhin ngang cung ben (khong the nhin ve phia bi

tdn thtfong);

. liet ntfa ngtfdi ca cam giac va van dong phia doi lap
cd ton thtfong mat kieu ben dtfdi.

- Hoi chtfng cau nao dtfdi Foville (typ III) gom co:

146
 liet n h i n n g a n g c u n g b e n ( k h o n g t h e n h i n v e p h i a c o
t o n t h u c m g ) ;

. lie t m a t n g o a i b i e n c u n g c u n g b e n ;

. liet n tfa n g tfd i p h i a d o i lap .

N e u t o n thtfcfn g n h a n d a y t h a n k i n h V I s e t a o r a t h e m
h o i c h u fn g M i l l a r d - G i i b l e r ( n e n x e m h o i c h u fn g R a y m o n d
v a C e s t a n v a h o i c h u fn g B r a u lt - V in c e n t ) .

235. FR A N C E SC H E T TI

( L o a n d u r in g g i a c m a c c h a m s a u )

La mot the lam sang ve loan dudng ldp sau giac mac
dtforc Franceschetti va cong stf neu len (1954 - 1957) vdi
dac diem la cd nhufng cham dong can rat nho, mau trang
nhat d trudc mang Descemet, va keo dai ra nhu nhtfng
dudi gai (dendrites). Loan dudng giac mac nay cd kem theo
cac dau hieu d da (vay ca).

236. F R A N C E SC H E T T I

(Xudc giac mac di truyen tai diln)

Dtftfc Franceschetti mo ta nam 1928 trong mot gia dinh
6 the he lien, benh xtfdc bieu mo giac mac tai diln nay
phat sinh ttf luc 4 - 5 tudi, va sau bien mat vao khoang
50 tuoi. Ve nguyen t6c, loai loan dudng giac mac nay khong
gay md due giac mac.

237. F R A N C E S C H E T T I

(Dau hieu tay - mat)

La mot dau hieu dtfdc Franceschetti nhan manh, bieu
hien d mot tre em mu (bat ke do nguyen nhan nao), cd xu

147
htfdng d t f a c a c ngdn tay dui vao mat (hien ttfong tay - mat)
n h tf m u o n ttf g a y r a mot cam giac anh sang Trieu chtfng
n a y cd g ia tri rat xau d tre em mu.

238. F R A N C E S C H E T T I - Z W A H L E N

(Loan dtfdng xtfang ham - mat)

Hoi chtfng rong ldn loan phat xtfang ham - mat ttfong
tfng vdi nhtfng di dang phoi thai cua cung mang thtf nhat.
Nhieu benh an vl hoi chtfng hiem thay nay da dtfoc bao
cao dtfdi nhtfng ten khac nhau ttf sau khi cd nhtfng mo ta
dau tien cua Berry (1889) va Treacher - Collins (1900).
Nhtfng mai den nam 1944, trong cong trinh cua Zwahlen.
F r a n c e s c h e t t i m a i xac dinh tinh dong nhat cua cac dang
l a m s a n g k h a c nhau cua loai loan dtfdng nay V i t h e ma
chtfng loan phat xtfang ham - mat con goi la hoi chtfng
Treacher - Collins, thtfang dtfac mang ten la hoi chtfng
Franceschetti - Zwahlen.
Do la mot di dang di truyen va gia dinh, truyen theo
kieu troi khong dlu va cd lien quan vdi mot gen khong on
dinh, bieu hien thay doi, dieu nay giai thich nhtfng stf thay
doi khac nhau co the xay ra trong benh canh lam sang,
ttf the benh hoan chinh den the khong dien hinh, qua cac
t h e nhe, tieu s o ' m va mot ben. Di dang phoi thai xay ra
vao tuan t h t f 7 cua thai va gay ra s t f ngtfng phat trien cac
xtfang a mat (xtfang go ma va xtfang ham tren).

Trieu chtfng rat phong phu va da dang:

- D ien m ao dac b ie t: dau ca vdi ham lui ra sau

(retrognatisme) do nhtfgc san xtfang go ma va xtfang ham
(ham nho. micrognatie). Phoi hap them nhtfng di dang

148
k l i a c n h u m i e n g r o n g ( m a c r o s t o m i e ) , vom m i e n g n h o n hinh
c u n g , r a n g m o c le c h lac, t o e c u n g v a y , m o c d a i r a c a trU d c
tai (r a u q u a i n o n ) , roi l o a n h e lo n g , l o n g m i, l o n g m a y . Con
c o t h e t h a y n h t f n g lo ro c h o t h o a c n h u fn g k h e ntft d m a t
k h o a n g gitfa m i e n g v a tai ( k h e m a n g th u - n h a t d o n g k h o n g
k in ).

- Di d ang tai la yeu to quan trong ciia hoi chiifng: vanh

tai xuong thap, tai be, tai bat san it hoac nhieu (dai tai
va xoan tai thuong van binh thtfdng), ong tai ngoai kem
phat trien. Doi khi tai giUa cung bi ton hai (teo xtfang
chum, vo sinh hom nhi, khong co tieu cot tai). Ve thinh
giac, di nhien la co diec kieu din truyen, nhtfng trong mot
so trtfcfng hdp dtfdng ghi thinh ltfc cho thay diec kieu hon
hdp (surdite mixte).

- Cac di dang m£t thtfc stf la cua hoi chtfng nay; do

la nhtfng dau hieu d mi, chii yeu 16 khe mi phia trong xech
ngtfdc len, khuyet ntfa ngoai mi dtfdi. Thtfcfng hay thay phoi
hop mot u nang dang bi hoac mot u bi - md ket mac - mi.

Cuo'i cung la nhieu di dang khac trong cd the nhtf d cot

sdng va ban le cham - cot song.

Cd ve hop ly khi ta xep gan vdi hpi chtfng loan phat

xtfong ham - mat nay 2 hoi chtfng khac cung kha nhieu
ngtfdi biet va da dtfdc xac dinh day du la:

1. Hoi chiing Franqois vd Haustrate (1953 - 1954) hoac

loan phat tai - xtfdng ham dtfdi vdi cac dac diem sau day:

- Ngtfng phat tri£n xtfdng ham dtfdi, thtfdng la mot ben,

ddi khi hai ben, nhifcfc sinh hoac vo sinh phan than hoac

149
ca n h le n . Do do gay ra mieng lech sang ben va mieng rong

ttfcmg doi.
- Di dang khdp noi thai duang - ham, di dang vanh tai
vb hep dug tai ngoai.
Cd thf? them i.ir dau hieu phu nhif thtfa sun tai. lo ro
chot gitfa tai va gdc mep. stft moi va rang moc khap khenh.

2. Hoi chiing Goldenhar (1952) hoac Franceschetti -

Goldenhar: phoi hop bo 3 trieu chiing 16 u bi d ria giac
mac, cuc thtfa trtfdc tai va lo rd chQt (fistula auris
congenita). Hoi chiifng n6y cdn dtfQc biet dudi cai ten loan
san m6t - tai, cd the xuat hi?n bi#t lap vdi hQi churng loan
phat xuong ham - mat.

Chung ta con ke den hoi chiing Urrcts - Zavalia (1955)

hoac nhtfQc sinh nguyen phat bd hdc mat, vdi cac dac diem
la ngUng phat trien manh bd hoc mat, nhtfQc san da mi
va sun mi, cac di dang khac nhau ciia le quan

Cuoi cung la hoi chiing Pico (1959) gom cd tat mi bam

sinh va long xieu.

Cac hoi chUng tren day co ve lien quan den mot gen
ma tuy theo tUng trudng hap se tao ra phenotyp khac nhau.

239. FR A N C O IS J. (Hoi chtfng loan xtfang daui

Hoi chtfng loan dang xtfang so va mat nay nam trong

khuon khd cua hoi chtfng cung mang thtf nhat va na na giong
hoi chtfng loan san xtfong ham - mat Franceschetti - Zwahlen

Benh cdn dtfgc biet dtfdi cdi ten hoi chtfng Hallermann
- Streiff (1948 - 1950) va hoi chtfng Ullrich - Fremerey -
Dohna (1953). Hoi chtfng loan xtfang dau - hinh dau chim

150
(fly.scej>halie - t e t e d oiseau) dtfgc J u l e s F r a n c o i s ( 1 9 5 8 -
1959) n g h i e n ctfu m o t cach xuat s f t c v a x a c d i n h r o t r ie u
c h u fn g h o c g o m 7 t r i e u c h u fn g c h i n h s a u d a y :

1. L o a n x t f a n g d a u t h e o h i n h " d a u c h i m " , d a u h i n h
t h u y e n h o a c d a u n g a n , h a m dtfdi k e m p h a t t r i e n , m u i m o n g
v a d a i t h u o n ra: vi n h u f n g d a c d i e m n a y m a t a t c a m o i
n g u d i b e n h d e u c o m o t b o m a t d a c trtfn g l a m c h o h o g i o n g
n h a u n h u c u n g g i a d i n h h o h a n g .

2. D i d a n g a ran g , thieu r a n g , r a n g m o c I o n x o n , di
h i n h , r S n g v a u v a h a .

3. N g tfd i l u n m o t c a c h c a n d oi.

4. Long toe it, dac biet ro la a da dau (ttfng mang hoi)

long mi va long may.
5. Teo da thtfdng khu tru a da dau va mui.
6. Nhan cau be a ca 2 ben.
7 . Due the thuy tinh bam sinh 2 ben, toan bo hoac cuc bo.

De tach biet hoi chtfng nay vdi nhtfng benh khac ttfang
ttf, Jules Francois co nhan manh den mot so' dau hieu am
tinh nhtf khong co di dang a mi, a tai, khong roi loan tam
than,v.v....
Tinh di truyen cua hoi chtfng con chtfa dtfgc ro vi vin
cdn gap mot so' it trtfdng hap dan phdt.

240. FR AN C O IS J.

(Loan dtfdng may md trung tam giac mac)

Mot the loai loan dtfdng giac mac, di truyln va gia dinh
dtfgc J. Franfois mo ta n&m 1956, phtfang thtfc di truyen
chtfa dtfgc ro. Md due a ca hai ben, can xtfng, chiem 1/3

151
giufa ldp nhu mo giac mac, difdi hinh the mot cai dia co
nhtfng dam may md nho, mau xam va cuon xodn vao nhau
6 vung dien dong ttf. Md due nhieu hon va dam dac hon
v§ phia mang Descemet, co xu the giam dan khi ra phia
chu bien va ldp trtfdc giac mac.
Soi sinh hien vi thtfdng cho thay ro stf nguyen ven cua
cac mang phia trtfdc nhtf bieu mo, mang Bowman vd ciia
ldp noi mo - Descemet. Cam giac gidc mac va thi ltfc khdng
bi ton hai.

241. F R A N C O IS J. V A D E T R O IT (B fnh)

Benh loan dtfdng bi - xtfong sun - gidc mac Franpois vd

Detroit (1949 - 1950) la mot tap hap loan dang gia dinh
hiem thay vdi cac dac diem sau day:

- Mot hoi chtfng loan dtfdng xtfang - sun ciia cac xifang
ngdn dau chi nhtf ban tay, ban chan, dan den tinh trang
lech khdp va co rut gan vdi cac di dang.

- Mot hoi chtfng d da, co not (u vang) d vung da mat

sau cac khdp ngdn tay, khuyu tay, len phia mui, vanh tai

- Mot hoi chtfng d mat bieu hien bang loan dtfdng giac mac:
do la nhtfng dam md due khong deu, tron, co hai ldp vd ma d
gitfa ttfdng nhtf la trong rdng. Nhtfng dam md due nay thtfdng
d vung trung tam giac mac, d ldp nong dtfdi bieu mo.

Lam xet nghiem mo hoc cac manh giac mac va cac not
d da cho phep ta nghl rang hoi chtfng nay la mot benh
tich lipid mo ltfdi (cholesterol).

Qua nhtfng benh an gia dinh da dtfgc mo ta, cd the nghl

den mot kieu di truyen lep autosom.

152
 242. F H A N ^ O IS J. - H AU STR ATE

( X e m F R A N C E S C H E T T I - Z W A H L E N )

243. F R A N C O IS J. VA NEETENS

( L o a n d t f d n g g i a c m a c lorn dom)

D u o c J.F r a n c o i s v a N e e t e n s n g h i e n cufu n a m 1 9 5 6 , lo a i
l o a n d u d n g g i a c m a c n a y , c d n h u fn g d a c d i e m s a u d a y :

- Soi sinh hien vi thay nhieu cham nho due it hoac

nhieu, hien ra nhtf nhufng dom nho d b a t ky cho nao trong
ldp nhu mo giac mac, t r o n g khi d nhufng cho con lai t h i
hoan toan nguyen ven. Tuy theo tifng trifdng hap ma hinh
the nhtfng cham dom nay thay doi, co the tron, bau due
hoac khong deu va cd vien. Dam do cac cho due thay doi
vdi nhtfng hat nho mau trang kha ro.

- Loai loan dtfdng giac mac nay cd d 2 m it va can xufng

khong xam pham tdi cac mang ngSn each va cam giac giac
mac. Ve nguyen tac thi loan dtfdng giac mac lom dom nay
xay ra d ngtfdi tre ma ho khong he cd mot stf bat binh
thtfdng nao d mat va co the. Benh truyen theo kieu troi
autosom hop phep. Thi life khong bi ton hai.

244. F R E E M A N - SH ELD O N (Hoi chiing)

Hoi chufng da loan dtfdng (loan dtfdng xtfcfng so - xtfcfng

co tay - co chan) dtfdc Freeman va Sheldon mo ta nam
1938. Trieu churng gom nhufng di dang mat nhtf moi tren
lom vao, mui be, mieng be va nhufng di dang cdc dau chi
(ban tay va ban chan veo) vdi teo da d mat gan ban tay
cua nhilng dot thuf nhat. Tri tue binh thtfdng.

153
 D a u h i e u a mdt g o m c o : k h o a n g c a c h gitfa 2 m a t r o n g
q u a , n e p q u a t g o c m i , loi n h a n c a u v a la c m i t .

245. FR E N ZE L (Rung giat nhan cau)

Mot the lam sang cua rung giat nhan cau dtfgc Frenzel
mo ta (1947), g6m 2 pha qua va lai nhanh vdi mQt quang
ngtfng rat ngSn d gitfa. Moi dong tac khdi phat dot ngot
va ngtfng cung dot ngot.

246. F R IE D R E IC H (Benh)

Benh ky la nay (Friedreich, 1861) thuoc nhdm nhtfng

benh xd hoa tuy hon hgp va ttfdng ttf giong cac benh thoai
hoa tieu nao di truyln gom benh Pierre Marie va benh
liet 2 chi dtfdi Strumpell - Lorrain. Benh gia dinh nay, di
truyln kieu lep autosom, phat sinh d ngtfdi tre va thtfdng
a nam gidi, benh khdi phat vao khoang tuoi day thi va co
the nhieu ngtfdi trong gia dinh cung bi.

Benh co dac diem la hon hgp nhieu trieu chtfng bieu

hien ton thtfdng a cac he thong khac nhau nhtf sgi tuy.
Tren thtfc te thay co:

- Mot hoi chtfng tieu nao nang vdi kieu di loang choang,
btfdc qua tam, mat lien dong (adiadococinesie):

- Mot hoi chtfng dang Tabet do ton thtfdng re - cot tuy

sau vdi cac dau hieu nhtf mat dieu hoa, mat phan xa gan
va roi loan cam giac sau;

- Mot hoi chtfng kich thi'ch bo thap nhe va co nhilu di

dang nhtf chan thot va gii - veo, ton thtfdng me dao. roi
loan tam than va phu tang nhtf tim phi dai va loan nhip;

154
 - D a u h i e u a m a t c h u y e u la r u n g g ia t n h a n c a u t h u o n g
h a y g a p n h a t .

(J g i a i d o a n t i e n t r ie n , t h a y c o v i e m th i t h a n k i n h v a
t e o th i t h a n k i n h . C a n c h u y la c o t h e bi liet v a n n h a n
t o a n b o h o a c k h o n g t o a n b o . R a t h i e m k h i t h a y c o d o n g
t u A r g y l l - R o b e r t s o n . D o i k h i n g u d i ta t h a y c o t h o a i h o a
t a p e t o - v o n g m a c b i e u h i e n chii y e u d u d i d a n g t e o h a c -
v o n g m a c t o a la n .

B e n h F r i e d r e i c h c o t r ie u c h t f n g h o c r a t d a d a n g . T i e n
t r i e n d o i k h i k e o d a i m a c d d u c o t h e x a y r a n h t f n g tai b i e n
t i m c h a m dtft b e n h m o t c a c h dot n g o t .

247. FUCH S (Hoi chtfng)

Hoi chtfng Fuchs (1906) con duoc biet den dtfdi cai ten
la benh di s ic mong m it co bien chtfng Fuchs (hetero-
chromie compliquee de Fuchs). Trieu chtfng hoc da dtfoc
xdc dinh day du va nhieu ngtfdi biet, gom co:

- B ien s i c m o n g m i t : or m it benh, mong m it thtfdng

cd mau sang hon.

- Teo m o n g m a t: dung den tat ca cac ldp cua mong

m it. Soi xuyen se thay ro thoai hda nay va thtfdng hay
b it dau ttf bd dong ttf vao; ddng ttf v in hoat dong tot.

- C ham k e t tu a do viem m an g D escem et d mat sau

giac mac, cham tron hoac nhtf canh sao, rat be, due Id
nhd. Cac cham tua sip xep Ion xon va khong bao gid cd
dang viem md theo kieu "cham nen" (tache de bougie). Ddi
khi trong thuy dich cd hien ttfong Tyndall kin dao.

155
 - D ue dich k in h : d-Jn iang nh-ing cham trlng - phan

- Due the thuy tinh: bat dau due duo: Dac &jeu kinh
dia sau: co the tien tdi due hoac toan. phong m ong ien
hoac tham chi tec nho iai va khi mo lay ra thay dep iep
- G o c mong • g ia c m a c w ait rong nhtfng thtJOng oo
tan mach rat nho la thu pham gay ra xuat huyet rat nhe
0 goc khi ta choc thuy dich Ra* hay gap 'SOS- so trricmg

hop* ki4u xuat huyet nay khi la choc uen phong. goi la
dau hieu Am sler.
- Phai durt khoat phat hien ting nhan ap Ta phai unh
jI X m s k a M K A f t t ir o ta a k k

- C a n c h _ y den n h j m g iau h :e j a m t i n h ::_ a n * r : n r

Khcng co vong axmg tu quanh g:ac mac

Cho nen can Trane chan doan nham vr: v;em i - r be
dao voi cac haii q'oa dieu tx: c l a no. S et qua xet n gh ien
thuy dich bao gic cung am tr.h

Hoi ch^ng Fuchs xua: hien 0 ba: ky t-u5i nao. r.- _*r r
hay gap nha: la a ngudi tre: car bieu hien dau tien ddi

X g u c n g>c rua b e n h k y .5 r a y r: rs k h a b i an m a : diu

::n n c h i: r i m =:r.r. m tfrrng h a y thav hon ca. V hrraa t r jr n r
hop gia dinh da d'Jac me :a ch: thay benh truyen the-:
K i i u :r o i hop phep hoac bat hop phep

15c
 N h i e u b e n h a n l a m s a n g c h t f n g to r a n g d o i k h i ngtfd i
ta c o the; g a n h o i c h t f n g n a y v a o v d i m o t t d n t h t fo n g c u a
g i a o c a m c d ( c h a n t h t f o n g cot s d n g cd, di d a n g d o t s d n g
cd , b e n h d ia g i a n d o t s o n g .v .v ...). P a s s o w c d n e u le n stf
p h o i h o p v d i n h t f n g d a u h i e u c u a b e n h roi l o a n t a o d t fd n g
d a n (s ta t u s d y s r a p h i c u s ) . C u o i c u n g c a n b ie t r a n g ta h a y
g a p c a c t h e l a m s a n g d o n c h tfn g , n o l a m c h o t h e m r a c roi
v i e c c h a n d o a n h o i c h t f n g F u c h s n a y la m o t thtfc t h e l a m
s a n g d a d tfg c x a c d i n h ro.

248. FUCH S ( L o a n d t f d n g g i a c m a c n o i b i e u m d )

Nam 1910, Fuchs bao cao 13 trtfdng hgp loan dtfdng

bieu mo giac mac va neu bat nhtfng dac diem chinh cua
benh la thtfdng chi xuat hien sau tuoi 50 va hay roi vao
ntf gidi. Mdi dau thtfdng bi d mot mat, nhtfng co xu the
lan sang mat thtf hai.

- Roi loan thi giac rat dac trtfng bdi tinh hay thay doi
cua no, thtfdng buoi sang nhieu hon, sau giam dan trong
ngay. Benh nhan cd cam giac nhin qua stfcfng mu, doi khi
nhin thay quang mau bieu hien phu giac mac.

- Soi sinh hien vi, xac dinh dtfgc cac tdn thtfong giac
mac, cd nhieu hern d vung trung tam; bieu mo giac mac
rai rac nhtfng bong nho, thtfc stf la hoi ntfdc, hoac nhtfng
cau tao mun ntfdc to, nhieu hay don doc, mun cd the vd
gay ra dau nhtfc tam thdi do xtfdc giac mac. Phu d ldp nhu
md gidc mac sat ngay trtfdc dd, bieu hien bang stf md due
va ddy len cua nhtfng la mong (lamelles) cd vdn khia d
cac ldp sau. Sau cung la can phai phat hien nhtfng ton
thtfcfng cua ldp noi mo va mang Descemet; thtfdng cd nhtfng

157
-.ru m h p h a n n h u giot nude a giac m a c . dudi dang nhung bong
nho. s a n g , a n o i inc.. Rat hay phoi hop voi sac to sau giac mac

C a m g ia c g ia c m a c g i a m va tien trien lau dai. dai dang,

d a n d a n t ie n den m o t tinh trang gan nhu dui mu do giac
m a c . Xguon g o c cua s U loan dudng phu ne nay la do tinh
t h a m ngam va cua cac ldp sau giac mac

Loan dudng giac mac noi bieu mo Fuchs dat ra nhtfng

van de thuc s U ve mat tri lieu, bdi vi no lam phien toai
them nhung dien bien sau phau thuat due the thuy tinh
Cac phudng phap dieu tri khac nhau ve noi khoa (thuoc
nho hut nude), ve ngoai khoa <ghep giac mac. ldp giac mac
g ia H i khi c a i t h i e n d u o c s u m a d u e g i a c m a c n h u n g
k h t r . g b a o g ia c o t h e chtfa khoi hoan t o a n .

X g u a i t a c o m o t a nhung the b e n h a n g u a i tre. cu n g

nhu cac the benh di truyen va gia dinh. di t r u y e n t h e o
kieu troi khong hop phep idominance irreguliere

249. F U C H S (Chami

Cham Fuchs tuong tfng vdi mot ton thuong hoang diem
rat cu the trong thoai hoa hac mac can thi. Duoc Forster
neu len <1862), loai tdn thuong can thi nay ve sau (1901
duoc Fuchs mo ta ky va cho biet do la mot cham tron
den nhu than

XU bi nhieu han nam. va theo Bailliart J P. thi neuai

cang nhieu tuoi va mat cang bi can thi a mUc trung binh
hoac nhe thi cang dd bi loai ton thuong nay.

- \e mat chUc nang cua ton thuong hoang diem nav. co

am diem duang tinh va nhin vat bi bien dang.

158
 - Soi day mat d giai doan dau cua benh. thay co phu
ne vung hoang di em vdi xuat huyet d bd; dan dan xuat
hien ro mot cham den, sac to dam, tron hoac nhieu vong
ngay tai hoang diem. Xet nghiem mo benh hoc xac nhan
teo ldp hac - mach mac vdi rach vd la kinh (lame vitree)
va ton hai cac ldp ngoai ciia vong mac trung tam.

250. FU C H S ( Vi em giac mac cham nong)

Dtfoc Fuchs mo ta nam 1889 dudi ten goi la viem giac

mac chain nong, benh nay cung da dtfgc nhieu tac gia thtfa
nhan dudi nhtfng ten khac nhau nhtf viem giac mac hoang
di em Von Reuss, v i em giac mac sat bieu mo Adler, viem
giac mac cham Kalt,v.v. ..
Day la mot viem ket - giac mac dich t l, thudng la do
virus, ton thudng giac mac xuat hien vai ngay sau khi bi
viem ket mac xuat tiet. Viem giac mac dtfgc tao nen bdi
mot so ltfgng it hoac nhieu nhtfng cham nho mau xam nhat
rai rac tren mat giac mac dudi dang nhtfng o tham lau
hat; mat giac mac khong bj ton hai va khong bat mau.
Tuy nhien thudng lai co tinh trang chain li ti d bieu mo.
Phan giac mac con lai hoan toan binh thudng, cac yeu to
khac a tiln phong cung vay. Cac dau hieu ca nang nhu
chay nUdc mdt, so anh sang mat dan sau it ngay; trong
khi dd thi ton thudng d giac mac phai mat hang tuan hoac
hang thang mdi het. Tuy vay, cuoi cung benh se khoi ma
khong de lai di chUng gi.

251. F U C H S (Hien tUdng)

Nam 1895, Fuchs co neu len kha nang xay ra nhtfng

dong dong ky di (syncinesies paradoxales) gitfa mot mi

159
tren da khoi sup mi do liet vdi nhufng dong tac cua mat
da khoi liet diet day than kinh III).
Hien ttfong nay dtfoc giai thi'ch bang stf phuc hoi sai lac
cua than kinh. ttfa nhtf la cac soi than kinh "di nham dtfdng'.

Trong qua trinh phuc hoi ciia liet day than kinh van
nhan chung (III), mi tren co the co rut khi ca thang trong
bi liet co gang liec mat vao trong. Dudi cai ten gia ddu
hieu Von Graefe, Fuchs da neu len bp mat lam sang rat
kheu goi ciia nhtfng dong dong trong qua trinh phuc hoi
liet day III: khi d tu the nghi, mdt liet sup mi hoan toan,
nhung sup mi se mat di va tham chi' mi se co nit len neu
ngUi i b e n h thu liec mat liet di theo cac htfdng nao do. dac
biet ia trong d o n g tac quy tu, dtfa vao va dtfa xuong Dong
tac dtfa mat c a n g manh hoac cang co gang dtfa manh thi
mi tren cang co rut.

252. FU C H S (Lo khuyet)

Lo khuyet Fuchs (1882) hay "conus nach unten" cua cac tac
gia ngtfdi Dtfc (vanh khuyet phia dtfdi) ttfcrng Ung vdi mot di
dang phoi thai ciia phat trien gai thj va cua hudng di cua dau
thi than kinh so vdi mang boc sau cua nhan cau. Nhtf vay thi
day la mot vanh khuyet gai thi bam sinh, doi khi don thuan.
khong co mot dj dang nao khac, gai thj van gitf hinh the binh
thtfdng va vanh khuyet chi gan them vao tren dd.

Trong nhtfng trtfdng hop khac, cd the cd them nhtfng

dj dang khac cua gai nhtf gai lech xuong dtfdi cung vdi lo m
sinh lv va chop troi len cua cac mach mau vong mac idao
Ion gai Bonamour), va cac bach tang cuc bo d day mat
Nhtf vay thi cd ve nhtf la gai thi da xoay 90°, dia gai co

160
true ngang Ichi hon, gong nhu qua bong bau due rugby. Doi
kin gai thi co hinh dang nhu "mieng ciia lo" igueule de
four), phia tren thi tron, bo dtfdi thi thing va sat ke ngay
vanh khuyet. Thong thudng, di dang khuyet Fuchs khong
gay mot ton hai chtfc nang nao.

253. FUCH S (Dau hieu)

Dau hieu nay it ngudi biet: co rut mi tren trong benh

cudng tuyen giap. Cd keo mi tren xuong thi thay cd stf ddi
khang manh hern d ngudi thudng.

254. F U C H S (Hoi chufng da - niem mac)

(Xem FIESSINGER - RENDU)

255. FULLER

(Xem ALBRIGHT - FuLLER)

256. G A L A T A (Dau hieu)

Mi mat khong kin khi ngu trong cudng tuyen giap cua
benh Basedow.

257. G a N SSLE N (Benh)

Hoi chufng rat hiem thay, di truyen va gia dinh (loan

xuong so - loan mau, 1925), ket hop mot vang datanmau
vdi mot dau hinh thap va cac hau qua d mat.

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 258. GARCIN (Hoi chufng)
Hoi chufng vdi dac diem la ton hai toan bo cdc day than
kinh so d mot ben (tCr I den XII) trong qua trinh xam lan
cua ung thu d nin so. Thudng la u saccom, u bieu mo a
nen so, u di can xam lan hoac u mui - hong lan tdi.

259. G A R C IN (Dau hieu)

(Xem CLAUDE BERNARD - HORNER)

260. G AR D N ER

(Xem DEVIC - BUSSY VA GARDNER)

261. G A S P E N R IN I (Hfli chtfng)

Hoi chtfng than kinh do mot ton thtfong d chom cau

nao, bieu hien bang ton thtfdng cac day than kinh V. VI,
VII cung ben, day than kinh VIII va mat cam giac nUa
ngudi phia ben kia.

262. G A U C H E R (Benh)

Benh Gaucher (1882) la mot benh hiem, xay ra d tre em,

cd tinh gia dinh (truyen theo kieu lep autosom). Benh cd dac
diem la qua tai xerebrosit d lach va he thong ludi - noi mo
do thieu enzym gluco - xerebrosidaza. Co 2 the lam sang:
- The cap tinh or tre sd sinh cd cac trieu chtfng chu
yeu ve than kinh nhtf dd dan, ctfdng nang, roi loan ho hap.
khd nuot va lac liet. Kem theo tinh trang nang hoan toan
nay cdn cd to lach - gan. Ttf vong.
- The m an tinh <3r tre em vdi cac dac diem sau day:
. lach to nhilu

162
 gan to muon han.
hach a sau,
. srtc to da, nhat la d nhufng vung phoi ra anh sang,
doi khi xuat huyet va ton hai xtfcfng vdi kha nang gay
xUcfng tu phat.
. chan doan can ctf vao choc lach, choc hach va choc
tuy cho thay co te bao to chtfa day lipid (te bao Gaucher).
Cac dau hieu o' mat nSm trong khuon kho cua mot benh
tich lipid mo ludi thuc thu; ket mac nhan cau mau nau,
nhat la ton thtfdng vong mac giong nhtf trong benh Tay -
Sachs (cham dd anh dao hoang diem, thoai hda quanh
hoang diem). Tim thay te bao Gaucher khi lain xet nghiem
hdc mac. Benh tich lipid (dyslipoidose) Gaucher cung
thtfdng phoi hop vdi can thi.

263. G AU LE (Cham)

Dtfdi ten goi nay (Gaule, 1891), can hieu day la nhtfng
o md due xay ra d tren giac mac bi viem do te liet than
kinh, md due la do vd nhtfng mun ntfdc (vesicules) bieu mo
va xtfdc tai dien.

264. G A Y E T (Viem nao xam)

(Xem WERNICKE)

265. G E L IN E A U (Hoi chtfng)

Hoi chtfng nay la dac diem cua nhtfng trang thai than
kinh cd chtfng cdn ngu thoang qua (narcolepsie) (buon ngu
khong the ctfdng lai, xay ra ttfng cdn dai it hoSc nhieu)
va mat trtfdng ltfc (cataplexie) (dot nhien mat trtfcfng ltfc

163
u r th e ). N g t fd i ta c o n io ta nhtfng bieu hien a mat. nhat
la k ie u s o n g t h i t t f n g hoi xay ra trtfdc ccfn. hoac co y nghia
n h u m o t c a n v d i mtfc do thap.

266. G E R L IE R (Can chdng mat cd liet)

Day la mot benh rat dac bi£t, cd the do nhiem khuan

va doi khi cd tinh dich te d mot so vung dia ly ma a dd
cac trieu churng da dugc mo ta (Jura, xa Geneve, Bdc Nhat
Ban do Kubisagari).

Benh cd dac diem la ttfng cdn chdng mat kjch phat dot
ngot vdi dau than kinh co; trieu churng d mdt la li#t mdt
tam thdi. cd sup mi ca 2 ben v& ton thtfdng van nhan thuoc
pham vi day than kinh III. Cac trieu chtfng xay ra ttfng
can kich phat ttf 10 den 20 phut va cd the tai dien. tham
chi hang ngay Benh cd xu htfdng ttfng mua va tien ltfOng
thuan lai

267. G E R S T M A N N (Hoi chtfng)

Hoi chtfng than kinh Gerstmann thuoc cac hoi chtfng

tam ly - thi giac. La mot stf mat dung thi giac (apraxie
visuelle) gay ra mat nhan thtfc ngdn tay (agnosie digitale»
(benh nhan khong the gid ra ngdn tay ma ta yeu cau.
khong the stf dung ngdn tay theo lenh cua ta)

Con phoi hgp them nhtfng trieu chtfng khac nhtf khong
the phan biet dtfgc ben trai, ben phai, khong dern dtfac.
khong viet dtfgc. Ban manh dong danh phia ben cung dtfac
ndi den. Ton thtfong gay ra benh a hoi nao gdc 'gyrus
angulaire) trong vung phoi hgp dinh - chain.

164
 268. GIERKE VON (Benh)

Benh nay do roi loan bam sinh chuyen hda glycogen

dtftfc Von Gierke neu len nam 1929. Gom cd: giam glucose
huyet, tich luy dtfdng trong gan va gan to, benh tim vdi
tim to va roi loan nhip tim. Ngtfdi ta cd mo ta nhtfng md
due giac mac chu bien do tich lipid md ltfdi, giong nhtf md
due giac mac trong benh Hurler.

269. G IFFO R D (Dau hieu)

Dau hieu Gifford (1906) bieu hien stf co rut cua mi tren
do co ctfng ccf trdn xay ra trong chtfng ctfdng tuyen giap.
No lam cho khd hoac khong the Ion mi tren dtfdc.

270. G IL B E R T (Viem mong mdt)

Trong qua trinh thtfcfng da va niem mac cua benh aptd,

Gibert (1921) cd mo ta viem mong mdt tai phat cd ngan
mu ma cac cdn kich phat it nhieu trung hop vdi cac cdn
aptd d da - niem mac. Viem mong aptd nay, theo Touraine,
la mot the benh aptd d mdt ma buoc ta phai nghl tdi hoi
chtfng Adamantiades - Behcet.

271. G ILFO R D - H U T C H IN SO N (Benh)

Chtfng lun gia (progeria) hay la benh Gilford - Hutchin­

son, la mot stf lun co dang gift (nanisme d’aspect senile)
xuat hien d tre em va tien trien nang sau nhieu n&m.
Ngudn goc di truyen dang con dtfdc ban cai. Hoi chtfng
loan phat xtfdng dau J.Francois nay gom cac trieu chtfng
sau day:

165
 - Lun can doi vdi teo da; da mong, kho, nhan nheo giong
nhu da giay, lam cho tre em co ve gia nua; toe. long may,
long mi loang thoang, thtfa thdt;
- Loan phat xtfdng dau vdi xtfdng tran to ra, kern phat
trien xtfdng ham dtfdi va rang (dau chim).
- Roi loan xtfdng - khdp, xtfdng xop, gay ttf nhien. khdp
di dang va han che.
- Cd quan sinh due nhi hoa.
- Vtfa dong mach sdm vdi viem dong mach vanh va dot
quy (ictus).
J.Francois nhan manh den dac diem khong thay co
nhan cau be va due the thuy tinh bam sinh, la dieu khac
biet vdi chtfng lun gia trong hoi chtfng loan phat xtfdng
dau - hinh dau chim. Thtfc ra thi cac bieu hien thuan tuy
cua mat rat khong co djnh. Ngtfdi ta cung co neu len nhtfng
trtfdng hdp bi vong mac sac to' vdi thu hep mach mau vong
mac va gai thi tai nhpt.

272. G O D T F R E D SE N (Hoi chtfng)

Hoi chtfng Godtfredsen (1947) la do stf xam lan cua khoi

u ung thtf mui hong d vung xoang hang (nhat la liet day
VI) cung cd ca liet day III va IV), tao ra mot liet day van
nhan kha hoan chinh. Co phoi hdp them liet day than
kinh ha thiet (nerf grand hypoglosse) (XII) do lan vao hach
cd cao (ganglion lymphatique cervical haut) gay ra noi va
nuot khd.

273. G O L D E N H A R

(Xem FRANCESCHETTI - ZWAHLEN)

166
 274. GO LDFLAM

( X e m E R B - G O L D F L A M )

275. G O L D M A N N - FAVRE

(Thoai hda kinh - tapeto - vong mac)

Dtfdc cac tac gia nay mo ta nam 1957 d mot ngtfdi anh
va em gai, loai thoai hoa ky la nay bieu hien bang hien
ttfdng tach ldp vong mac chu bien, teo hac - vong mac hinh
trang hoa (guirlande) va cac ton hai dich kinh (co nhtfng
tain voan V2 day mau trang nhat d trtfdc vong mac). Ton
thtfdng co the tien trien den tan vong mac trung tam, gay
giam thi ltfc va quang ga vdi dap tdt dien vong mac. Di
kern theo hoi chtfng tach ldp vong mac ttf phat tien trien
cd quang ga sdm nay cd the cd sdc to vong mac rai rac.
Truyln theo kieu lep autosom.

276. G O N IN - VO G T (Mang ltfdi)

Mang ltfdi hang rao (reseau palissadique) Gonin - Vogt

ndm trong cac ton thtfcfng vong mac chu bien, gap d mot so
thoai hda vi u nang (microkystique) co nguon gdc bam sinh.

Soi day mdt va nhat la soi sinh hien vi, thay nhtfng
vung vong mac mong manh nay rat gdi y, day la dau moi
cua nhtfng vet rach va bong vong mac. Mang ltfdi gom
nhtfng dtfdng van rat manh, mau trdng xa ctf, xodn vao
nhau, nhtf hinh mot tam ltfdi d vung xich dao, nhat la d
thai dtfdng tr*n. Cd ve nhtfng ton hai nay la do tdc nghen
cac tinh mach nho va dong mach nho cua he thong mach
phoi thai gay ra.

167
 Qua mang ludi hang rao nay, rai rac nhtfng cham sac
to hoac teo hoa cua hdc - vong mac. Loai thoai hoa dang
u nang kieu hang rao nay co the din den nhtfng lo 6 vong
mac, den mot tinh trang tach ldp vong mac va bong vong
mac thtfc thu va ttf phat.

277. GO PPER T (Hoi chtfng)

Hoi chtfng Goppert (1917) dtfdc nhieu ngtfdi biet hon

dtfdi cai ten galactose huyet, 16 nhtfng roi loan xuat hi£n
ngay ttf nhtfng thang dau cua dtfa b£, do khong the chuyen
galactose thanh glycogen dtfdc.

Benh bieu hi£n rat sdm bang nhtfng roi loan v& tieu
hoa nhtf non mtfa, la chay roi gan to, lach to, vang da va
suy dinh dtfdng. Nhtfng trieu chtfng nay bieu thi stf khong
dung nap, galactose bi thai ra rat nhieu trong mau va nude
tieu, co ca albumin nieu.

Dau hieu d mat, chu yeu la due the thuy tinh kieu a
sau hoac d nhan; loai due the thuy tinh bam sinh nay co
the thoai trien cung nhtf cac trieu chtfng khac bang cach
cat dtft stfa, neu benh dtfdc chan doan kha sdm. Di truyen
co ve kieu lep autosom.

278. G O U G E R O T SJO G R E N (Hoi chtfngi

Hoi chtfng nay dtfdc Gougerot xac dinh nam 1925: Nlu-
lock Houwers, nam 1927, neu len stf hay gap cac dau hieu
d mat, va ttf nam 1933, Sjogren quan tam nghien ctfu den
benh da chtfng nay.

Hoi chtfng thtfdng hay xay ra nhieu hdn d gidi ntf tuoi
da ldn. Nguyen nhan con chtfa ro. Trieu chtfng khdi phat.

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ket hap mot viem ket - giac mac kho do kem tiet ntfdc
mat. vdi mot stf giam tiet ntfdc mdt, vdi mot stf giam tiet
ntfdc hot gay ra kho niem mac, va thtfdng hay cd tdn hai
a khdp.
1. Hoi chiin g ve m at chu yeu la viem ket - giac mac
khd vdi it dau hieu ca nang, it nhat cung la luc khai phat.
Soi sinh hien vi thay ket mac dd va bong lang nhtf vecni,
bieu mo giac mac m at bong vdi nhtfng ton hai viem giac
mac stfi va bat mau. Lam test Schirmer, thay ro suy giam
tiet ntfdc mat.
2. Hoi chtfng ntfdfc bot bieu hien bang stf khd mieng
vdi cam giac rat bong va co the dan den kho nhai, kho
noi va khd nuot. Doi khi stf kho mieng din den nhtfng roi
loan dinh dtfdng d rang. Chup X quang tuyen ntfdc bot
(sialographie) cho thay nhtfng goc bai tiet ldn cua tuyen
mang tai vin gitf the tich binh thtfdng, nhtfng co nhtfng
ch6 cut (amputation) a cac ong tiet ntfdc bot nho tan cung,
co nhtfng hinh anh nang u va cd hien ttfong ngtfng dong
chat thuoc ttfong phan.
3. Hpi chtfng toan than, bieu hien chu yeu la thap
khdp (60%). Hoac co ttfng con dau thoang qua d nhieu
khdp, hoac viem khdp kieu ban cap hay man tinh xay ra
d cac khdp to, hoac thtfc stf mot viem da khdp man tinh
dang thap khdp.
Cac dau hieu ve tieu hda nhtf tao bon, dau hieu 0 da va
cac roi loan cua nhtfng bo phan lo ra ngoai mat da (phaneres)
d§u co lien quan vdi stf kho niem mac va mo hoi.
Hoi chtfng tien trien keo dai man tinh va cd the din
den tinh trang kho ctfc ky nang cua niem mac, dac biet

169
la dan den tinh trang kho giac mac gay ra mat kho
pemphigut va co rut cung dd ket mac va mi Tuy nhien
cung cdn ltfu y rang cac the benh nhe ttfong doi hay gap
va chi bieu hien bang mot it spi bat mau trong viem giac
mac spi vdi giam tiet ntfdc bot khi lam test Schirmer.

279. G R A D E N IG O (Hoi chtfng)

Dtfoc Gradenigo mo ta nam 1904, hpi chtfng gom c6 liet

day than kinh van nhan ngoai xay ra trong qua trinh diln
bien cua viem xtfong d mom xtfong da bdt nguon ttf viem
tai, hoac xay ra sau mot huyet khoi cua xoang da. M6 i lien
quan chat che ve giai phdu hoc, noi lien mdm thap xtfcmg
da vdi day than kinh van nhan ngoai d dirdi day chang da
- btfdm Gruber, lam sang to gia tri khu tru va nguyen nhan
cua loai liet van nhan nay; liet nay co the phoi hop vdi liet
day than kinh mat va vdi mot ton thtfong day than kinh V
gay ra dau nhtfc day than kinh sinh ba d mat va mat.

280. G R A E F E VON (dau hieu)

Dau hieu Von Graefe (1864) bieu hien stf mat dong van
(asynergie) gitfa nhan cau va mi mat rat kinh dien cua
benh Graves - Basedow. Khi nhin xuong, mi tren va nhan
cau mat stf hop dong vdi nhau, nhan cau xuong nhanh hon
mi mat, lam de lo cung mac ro han. Nhtf the co nghla la
mi van di theo nhan cau trong dong tac nhin xuong nhung
mi xuong cham han, chap chdn va khong hoan chinh Neu
dau hieu d trang thai khong ro rang thi ta bao benh nhan
nhin len, nhin xuong nhieu lan lien tuc de lam cho mi moi
se thay.

170
 Dau hieu Von Graefe gap trong 50% so trtfong hap benh
Basedow, va no co lien quan den stf co ctfng thtfdng xuyen
cua cac co tron mi. Cuoi cung, can ltfu y rang trieu chtfng
nay cung co the gap ngoai benh ctfdng tuyen giap, nhtf
trong mot so hoi chtfng Parkinson va trong ton thtfcfng cu
nao sinh ttf.

(V§ dau gia Von Graefe, xem muc "Hien ttfong Fuchs").

281. G R AEFE VO N (Benh)

Dtfgc biet dtfdi cai ten glocom khong nhan ap, benh Von
Graefe co dac diem la: lom gai kieu glocom vdi cac ton hai
thi trtfcfng kinh dien, nhimg do nhan dp thi nhan ap binh
thtfdng. Hien nay, thtfc the lam sdng ndy tdch le ra nhtf sau:

- C6 the glocom man tinh mdi phat ma chi do nhan dp

nhieu ldn (16m bieu do theo doi 24 gid) v6 lam c6c nghiem
phap kich dong thi mdi xac dinh ro nhan £p tang. Di nhien
la lam xet nghiem do do rdn cung mac, va nhat la lam
nhan ap ky, se cho ph£p xac dinh ro hon la cd hay khong
cd glocom man tinh: giam ltfu ltfong bai tiet thuy dich co
the giai thich cho mot nhan ap binh thtfdng trong khi stf
ltfu thong bi kem. Ap ltfc dong mach mdt thap ttfong doi
cd the giai thich cho nhtfng ton hai cua gai thi gay ra bdi
mot nhan ap gan mtfc binh thtfdng.

- Trong nhtfng trtfdng hop khac, cac hoi chtfng goi la

"glocom khong nhan ap" ttfong tfng vdi mot xo ctfng cac
dong mach to d n in so (voi hda mach). Cung vay, mot xo
ctfng cac mach nho ciia gai thi, hoac mot dong mach mdt
co ltfu thong qua yeu, deu cd the gay ton thtfong cho dla

171
thj, sau khi da kham bang moi phtfcfng phap de loai tri/
mot glocom man tinh

282. G R A E F E (VON ) - LIN D EN O V (Hoi changi

Hoi chtfng ket hap diec hoac ca cam - diec xay ra sdm
theo kieu bam sinh, vai nhtfng bieu hien chong mat do me
dao (Lindenov, 1945). Ngtfdi ta co mo ta stf phoi hop vdi
viem vong mac sdc to, due the thuy tinh bam sinh va rung
giat nhan cau. Con thay nhtfng bieu hi^n lam sang khac
nhtf tri cham tam than - van dong, lun, dj dang cac chi,
tat goi khuynh vao trong (genu valgum) va ban chan veo.

283. G R A E F E (VON) (Hien ttfang dong tur)

Trong liet hoan toan ca noi tai, khi co liec mdt ra phia
ngoai thi se gay ra co dong ttf. Hien ttfgng dong ttf nay
khong the giai thich that ro rang dtfgc ngoai can nguyen
a trung i/ang.

284. G R A V E S - B A SE D O W (Benh)

Benh Graves (1835) va Basedow (1840) la dac diem ciia

ctfdng tuyen giap co hoac khong co btfdu co, xuat hien chu
yeu d phu ntf vdi mot tap hgp cac trieu chtfng ma moi
ngtfdi deu biet nhtf tim dap nhanh, gay, run. suv nhi/ac.
bien doi tinh tinh, chuyen hoa co ban tang.v.v...

Chung toi khong can diem lai nhtfng bieu hien a mdt cua
benh nay ma tat ca cac sach nhan khoa deu da noi den
Chung toi chi nhde lai cac dau hieu kha quen thuoc ma cac
tac gia trtfdc da de lai ten va ban doc co the tra ctfu trong
tap sach nay: Ballet, Cowen, Dalrymple, Enroth. Fuchs,

172
Gifford, Von Graefe, Jellinek, Joffroy, Knies, Koeber,
Loewi, Moebius, Rosenbach, Sainton, Stellwag va Suker.

285. G R E E N F IE L D

(Xem benh BOGAERT VAN)

286. G R EG G (Hoi churng)

Hoi churng Gregg (1941) la dac diem cua nhufng di dang

bam sinh d mdt do benh phoi rubeon, dac biet la due the
thuy tinh bam sinh.

Neu benh rubeon xay ra trong 7 tudn le dlu cua thai

nghen thi rat hay gay ra cac di dang cho phoi (80 den 90%).

- Due the thuy tinh bam sinh la trieu chufng thudng

thay nhat (60%). Thucfng due dr ca 2 mdt nhung due co the
khong can doi va doi khi chi due mot ben. Thudng la due
toan bo, deu, thay ngay khi mdi sinh; doi khi due nhieu d
trung tam nhan. Trong mot so' trudng hup, cdn phoi hop
them nhUng di dang khac cua the thuy tinh nhu lac chd,
nhon chop.v.v...

- Nhan diu be la dac diem cua rubeon va luc dd cd kem

theo ca rung giat nhan cau.

- Gia viem vong mac sdc to' cung thudng thS'y cd phoi
hup hoac khong vdi due the thuy tinh bam sinh. Viem
vong mac nay cd dac diem la ngUng dong sdc to rat nho
hoSc trdn d cue sau trong vong cung cac mach mau thai
duong. Gai thi va mach mau binh thudng. ChUc nang thi
gi£c it ton hai, dien vong mac ky binh thudng hoac gan
binh thudng.

173
 - Cd mo ta nhtfng di dang mdt khac nhtf ton thtfong
mong mat (teo nhu mo, dong ttf co khong phuc hoi), glocom
bam sinh, lac mat va sup mi.
- Chan doan can ctf vao viec hoi tien stf 0 ngtfdi me,
nhtfng chu yeu la dtfa vao cdc di dang phoi h op khac nhtf:
. Diec do di dang tai trong.
Tdn thtfong bam sinh d tim (50%), ltfu ton dng dong
mach, 16 Botal va thong lien tdm that.
. Ton hai rang.
. Tri don tam than, loan phat xtfong so.
Stft moi. ban chan veo.v.v...
Kiio ma ke het tat ca nhtfng di dang trong ca the co
the gap trong qua trinh benh phoi do rubeon, vi neu liet
ke ra thi rat dai.

287. G R EIG (Hoi chtfng)

Dtfoc mo ta nhdn cd 2 benh dn nam 1925, di dang ndy

dtfgc nhieu ngtfdi biet hon dtfdi cdi ten "tat 2 mat xa nhau
qua" (hypertelorisme).
- 2 mat xa nhau qua hoac 2 hoc mat xa nhau qua la
trieu chtfng can thiet va du de chan doan: binh thtfdng,
khoang cach gitfa 2 cuc le la ttf 33 den 35 mm, nhtfng trong
di tat nay, khoang cach co the ttf 45 den 50 mm Do do
bo mat co mot ve rat dac trtfng, "mat bo" (facies bovin)
vdi lac ra ngoai va goc mui be rong ra.

- Thtfdng cd phoi hgp nhtfng di dang khdc nhtf nhtfgc

san ham tren, ham dtfdi nho ra, ddu ngdn, khe ntft vorn
mieng. Ngtfdi ta co noi den di dang cdc dau chi va dinh

174
ngon. Benh nhan co the giam sut tam voc ngtfdi 0 mot
mtfc nao do, va tri don tri tue.
Greig nghl rring tat nay do 2 canh xtfang btfdm tao cot
qua sdm lain cho 2 hdc mdt bi cd dinh ve phfa ben trong
thdi ky phoi. Gan day han, ngtfdi ta cho la do khiem khuyet
trong cot tao cung mang thtf nhat: di tat nay co the truyen
theo kieu lep dan gian hoac theo kieu troi (nhtfng gia dinh
co tat 2 mdt qua xa nhau).

288. G R O E N B L A D - STR A N D B E R G (Hoi chtfng)

Hoi chtfng Groenblad - Strandberg (1829) cd dac diem

la phoi hap nhtfng ke van mach mau vong mac vdi nhtfng
ton thtfang d da (gia u vang dan hoi Darier).

- Ton thtfcfng gia u vang dan hoi d da co trong

khoang mot ntfa cac trtfdng hgp ke van mach m&u. Da bi
ton hai la do ton thtfang cac ldp gitfa va sau cua mang
dem dan hoi. Ve lam sang, do la nhtfng not loi nho mau
trdng - vang, bdng dau kim g&m ho&c hat dau nho, d rai
rac hoac tu tap lai cd kem theo nhtfng vet ran or tren mot
ldp da kha nheo. Can phdi tim ky gid u v6ng d6n h6i, dac
bi§t 16 d 2 ben co, nach, c6c nep khuyu va hom khoeo. V§
m6t mo hoc, sinh thiet cho thay ton thtfang khu tru d c6c
sai dan hoi bi thoai hda, nhat 16 d cac ldp sau cua da.

- C ac ke van mach mau khu tru d vong mac dtfdi

dang nhtfng khe ntft kha ngodn ngoeo, sau, ttf mot vong
quanh gai mau xam den chay ra theo kieu nan hoa. Cac
ton thtfcmg hoang diem cd tinh chat tho6i hda va xuat
huyet lam cho benh nang ve mat chtfc n&ng (ton thtfang
nguyen ph6t ciia la Bruch va giap vd 16 kinh). Nhtfng ton

175
thucfng a day mat cung dtfgc neu len nhtf toan the day mat
cd mau vang nhat, day mat lam tam nhieu sic (Bischler).
cd nhtfng vung teo hac mac va druse d la kinh
Cdn ltfu y rang hoi chtfng Groenblad Strandberg co the
ndm trong khuon khd mot benh he thong (thoai hda mo dan
hoi), cho nen ngoai nhtfng tdn hai d da, can tim them nhtfng
ton thtfong phoi hgp d dong mach va tim, benh xtfong Paget,
benh thoai hda hong cau hinh liem (drepanocytose); hpi chtfng
Groenblad - Strandberg cd tinh gia dinh trong mot ntfa so'
trtfdng hgp, truyen theo kieu ldp don gian.

289. GRCENOUW

(Loan dtfdng hat Groenouw, typ I)

Loan dtfdng not hoac hat Groenouw (typ I) la loan dtfdng

nhu mo giac mac cd tinh di truyen vd gia dinh (Crcenouw,
1890 va 1933).

Benh nay cd ve la thtfdng gap nhat trong cac viem giac

mac thoai hda gia dinh, truydn theo kieu troi, ddi khi gan
lien vdi gidi tinh. Ca nam vd ntf deu bi. Cac trieu chtfng
dau tien bieu hien ngay ttf tuoi thanh nien bang stf giam
thi ltfc va ve sau xuat hien nhtfng con dau nhtfc giac mac
do nhtfng xtfOc nong tai dien.

Soi sinh hien vi thay ton thtfong d ca 2 mat gom nhtfng

not mu trdng stfa, ldn nho khong deu, cd bd nham nho doi
khi tron. Nhtfng cau tao nay d phan ntfa trtfdc nhu md;
cdc ldp sdu giac mac, ve nguyen tac, v in nguyen lanh. Ldp
bieu md nong cd the bi cdc not doi len vd ddi khi bat mau.
Toan bo cdc ton thtfong tao ra mot dam md due d trung
tam, hinh dla, va vung chu bien giac mac canh ria khong

176
bi dung chain den 0 giai doan sau, cac giac mac doi khi
giam; tan mach xay ra muon va tilcfng tfng vdi thai ky bien
churng. Benh ket thuc bang sir md due dan nhu mo giac
mac va mu. Loai thoai hda giac mac di truyen nay la chi
dinh rat tot de lam ghep giac mac.
Sau cung, cdn ltfu y den kha nang phoi hop vdi nhtfng
loai thodi hda giac mac gia dinh khac (dac biet la loan
dtfdng kieu mdt ltfdi Haab - Dimmer).
Benh co the cd nhtfng trtfcfng hop don phat, biet lap.
(Ve benh loan dtfdng giac mac Groenouw, typ II, xem
muc "Loan dtfdng giac mac Fehr").

290. G R (ENO UW (Loan dtfdng gidc mac typ II)

(Xem FEHR)

291. G R O U C H Y (DE) (Benh)

Khuyet doan canh dai the nhiim sdc 18 gay ra nhieu

di dang, chu yeu 16 d mat va so nhtf dau be, tang gitfa mat
bi co ngdn, cdm nho, moi tren cong veo. Ngtfdi ta cdn thay
tri tr? tam thdn, tai v£nh. Cung cd tinh trang khoang c6ch
2 mdt qud xa.

292. G R U B E R (hQi chtfng)

Hoi chtfng Gruber (1934) ho&c loan phdt xtfcfng ddu co

u nang noi tang (dyscephalie splanchnokystique) la mot
tap hop nhieu di dang rat hiem thay, gom co:
1. Cdc di dang xtfong so cd loi nhan cau, 2 mdt xa nhau
do di dang hdc mdt.
2. Di dang ngdn tay nhtf nhieu ngdn va dinh ngdn.

177
 3. Cac ton thuong ve roi loan tao dtfdng dan 'status
dysraphicus) vdi nhtfng di dang nieu - sinh due \a cot =ong.
4. Cuoi cung la benh da u nang noi tang d than, buong
trtfng. gan va tuv

293. G R LT Z

(Xem BURGER - GRUTZ)

294. GUBLER
(Xem MILLARD GOBLER)

295. GUILLAIN (Phan xa)

Phan xa than kinh sinh ba - mi mat Guillain gav nham
mi (co that ca vong cung mi) khi ta go vao goc mui. Neu
ta kich thich a doan gitfa mui thi se gay phan xa mi a ca
2 ben va co the so sanh vdi nhau.

296. GUILLAIN - BARRE (Hoi chtfng)

Dtfdc Guillain va Barre mo ta nam 1916, hoi chtfng nay

tap hdp cac viem nhieu re than kinh co phan ly albumin
- te bao d dich nao - tuy. Day la nhtfng viem da day than
kinh nhiim khuin ma trong nhieu trtfcfng hdp co the do
virus ai than kinh, rat g in vdi virus trong cac viem true
than kinh khac. Can ltfu y den tinh chat d nong cua cac
ton thtfdng than kinh nay ma gan nhtf khong bao gid gay
ra thoai hoa day tru true nghiem trong, nhtfng co xu htfdng
lan tran.

- Benh khdi phat vdi tinh chat nhiim khuan ro r&ng,

co sot, co roi loan tieu hoa va dau minh miy.

178
 - Cac roi loan ve van dong xuat hien dan dan. theo kieu
viem da day than kinh, ro d cac ccf dudi dtfdi dang liet
nheo 2 chi dudi Ton thuong d chi tren hiem hon. phan xa
mat. Di cam (paresthesie), thuong cd dau nhtfc ttf phat va
khi so ndn vao cac dam co Guillain va Barre nhan manh
tinh hSng dinh trong stf phan ly albumin - te bao dich nao
- tuy; tuy nhien cung co the khong cd.
Tien trien thuan loi va sau it tuan le cd the khoi benh.
Nhieu the lam sang khac nhau da duoc mo ta (the gia benh
co, the cau nao, the dau cac dau chi, the lan len); va chung
bieu hien ton thuong lan den true than kinh (Liet Landry).
Cac trieu chufng of mdt c6 the thau tom vao 2 loai:

1. Li£t van nhan d trong cdc the cao, d trung nao va

kem theo liet mdt ca 2 ben. Van nhan noi tai doi khi tdn
hai nhu 2 dong tuf khong can bdng, roi loan dieu tiet va
hoi chufng Claude Bernard - Horner.
2. Ton thtfcfng thi than kinh, chu yeu la phu gai mdt
trong tdng dp ltfc noi so. Trong mot so' trudng hop, co viem
thi than kinh phu ne thtfc stf vdi giam sut thi ltfc.

297. GUNN (Dau hieu ddng tuf)

Ndm 1904, Gunn da nhan manh ve tam quan trong cua

phan xa ddng tuf quang van, no cho ph£p ta phan biet stf
giam thi ltfc bdi nhuoc thi co ndng vOi giam thi ltfc bdi
tdn hai thi than kinh va cdc dtfdng ddn truyen trtfdc the
gidi; thtfc te la trong trtfdng hop sau, neu kich thich bdng
anh sdng lien tuc thi ddng tuf ben bi benh co lai cham va
gian ra nhanh hon ben ddng tuf ldnh. Cung can ltfu y rdng
khi chieu sdng vdo ddng tiif benh thi d ben mdt lanh vdn

179
con phan xa dong cam; vi vay ta tim dau hi£u dong tu Gunn
d ngay ca tren mot dong ttf gian hoac te li£t bdng cach quan
sat thay xuat hien gian dong cam d dong tii ben lanh

298. G U N N (Dau hieu)

Dau hieu nay dtfgc biet nhieu hon dudi cai ten dau hi£u
bat cheo giufa dong mach va tinh mach vong mac. Dtf0c
Gunn mo ta ndm 1893, trieu chiing ndy Id bdng chiing gan
nhu hdng dinh cua benh tdng huyet dp. d cho dong mach
bdt cheo qua tinh mach thi tinh mach nhtf bi de bep xuong,
va mat di d hai ben thanh dong mach. Neu d chd b it ch6o
dong mach di dtfdi tinh mach thi co thdt cua tinh mach it
thay ro han, va tinh mach bi day lui.

N am 1935, Salus nghien ctfu lai va bo sung them, nhan

manh den nhtfng bien doi cua doan tinh mach d phia tren
cho bdt cheo nhtf Id di lech theo dtfdng cong, theo hinh
ltfai le, hinh chtf S hodc chii Z.

299. GUNTHER
(Xem LAURENCE - MOON - BARDET - BIEDL)

300. GUNTHER (Benh)

Benh roi loan chuyen hoa porphyrin bdm sinh di truyen

(Gunther, 1911), ngoai nhtfng ton thtfang da bong ntfdc do
cam quang, con gay ra nhtfng ton thtfong co rut d mi va ton
thtfcfng d gidc mac giong nhtf nhtfng giot dau be nho mau
vang d ngay ria, va nhtfng tdn thtfang nhuydn cung mac

180
 H

301. H A A B (Thoai hoa hodng diem)

Thodi hod hodng diem lao suy Haab (1885) ttfang ting
vdi nhtfng tdn thucfng kho, khong dich ri, gay ra su ngtfng
dong sdc to' khd cd dinh or vung hodng diem. Mdi ddu chi
Id mot it hat sdc to', tdn thtfong hodng diem lan rong dan
vd cuo'i cung tao ra mot vung teo vdnh trdn d trung tam,
de lo ro mang mach hdc mac d ngay dtfdi dd. Doi khi, do
vifc khdm mot cdch cd h f thong md phdt hifn ra trang
thdi thodi hod, nhtfng thong thtfdng do gidm thi ltfc, ddc
biet Id khi doc sdch, md ddn den viec khdm mdt, ttf dd
ma ta phdt hifn ra mpt dm diem trung tam dtfcmg tinh, doi
khi ngtfdi bfnh nhin vat thay bien dang. Benh thodi hod
hodng diem lao suy, kho, teo Id do xo hod ldp mach hdc mac.
Vd hinh dnh ddy mdt, the 1dm sdng ndy ddi lap vdi the thodi
hod hodng diem lao suy dich ri Coppez vd Danis.

Cung vdi cdch suy nghl nhtf vay, ngtfdi ta ndi Id cd thodi
hod hodng diem Haab sau chd'n thtfong neu xdy ra teo
hodng diem trong qud trinh diln bien cua m ft hoi chtfng
dung dap d mdt.

302. HAAB (Kf van)

Ke vdn Haab (1889) Id nhtfng dtfdng van nhd d mdt sau
gidc mac, hinh cong n&m ngang; d£y Id nhtfng vung rdch
d mdng Descemet gdp trong bfnh glocom b£m sinh.

181
 303. H A A B (Phan xa dong tiif vo nao - thj giac)

Duoc Kestenbaum neu len, phan xa dong ttf vo nao -

thj giac Haab bieu hien bang su co dong tu khi m it van
0 tu the bat dong va benh nhan thi chu y ve mot cham
sdng d chu bien thi trudng.

304. HAAB - DIMMER (Loan dudng gidc mac)

Loan dudng mang ltfdi (dystrophie grillag6e) gidc mac

dtfgc Haab va Dimmer nghien ctfu, ndm 1889. Day 1& m0t
loan dtfdng gidc mac d nhu mo, di truyln trQi, c& 2 gidi
deu bi va doi khi cd stf phan bd' theo dia ly. B$nh xuit
hien ttf ndm 20 tuoi, c6 the b it dlu b ln g mdt stf gilm thi
ltfc va mai den khoang 40 tuoi mdi giam nhieu, bdi vi
trong qua trinh tien trien cua benh c6 nhtfng quang cdch
cd dau nhtfc do loet giac mac tai diln.

Soi sinh hien vi thay ro bo mat lam sdng cua loai loan
dtfdng nay thtfdng la ca 2 m it; nhtfng tdn thtfang theo
dtfdng thing deu d trung tam gidc mac, khu tru a 2/3 trtfdc
nhu mo, khong dung den vung chu bien gidc mac. Hinh
anh tdn thtfong ddc trtfng, nhtfng soi dng dnh ttf vung sdt
ria di vao theo htfdng trung tam gidc mac, bd sgi 1dm chom
nhtfng gai nho. Cdc soi tdch ddi mQt cdch khong deu va
khong chip noi vao nhau.
Thong thtfdng thi cdc ldp sau gidc mac cung nhtf vung chu
bien vin trong. Cam gidc gidc mac co the bi tdn hai; tan mach
vd seo gidc mac la nhtfng bien chtfng thtf phdt sau cdc dgt loet

Loan dtfdng gidc mac Haab - Dimmer, d mQt giai doan

tien trien ndo dd, cd chi dinh r£t tot de 1dm ghep gidc
mac, ddc b ift id ghep nong.

182
 305. HAGEN (Dau hieu)
Dugc Hagen mo ta nam 1921 trong van de bong hac
mac. Soi xuyen cung mac thay doi dien vdi vung bi bong,
ddi nau the mi bi durt doan va d vung bong thi cung mac
lai thay qua sdng, dong tuf cung vay.

306. HALLERMANN - STREIFF

(Loan phdt xuong dau)

(Xem FRANCOIS J.)

307. HALLGREN (Hpi chtfng)

Hoi chtfng Hallgren (1959) bao gom m§t viem vong mac
sdc to', diec bam sinh, mat dieu hoa tien dinh - tieu nao
va suy thoai tam than.

H0i chtfng c6 vd do chi mot gen 16p vOi do tham nhap

b&ng nhau d cd 2 gidi va cd khd nang gay roi loan phtfc
tap nhtf gdy ra viem vong mac sdc to', diec bdm sinh va
mat diiu hod d hdu het cac trtfdng hop. Benh sdc to v5ng
mac la kinh dien va thtfdng ddn den mtf; doi khi cdn c6
them due the thuy tinh vdi rung giat nhan cdu. Diec rat
nang. Suy thoai tam than la dac di£m cua hoi chtfng va
cd the ddn den mot tam than phdn li^t thtfc thu.

308. HAND - SCHULLER - CHRISTIAN (B?nh)

Ldn ltfot dtfgc Hand (1893), Schuller (1915), vd Christian

(1919) nghi&n ctfu, b$nh ndy Id mQt b§nh u vdng cd
cholesterin binh thtfdng (xanthomatose normocholester-
inique) (b<?nh tich lipoid c6 cholesterin). B§nh c6 thi cd

183
tinh gia dinh, xay ra d tre em it tuoi. Trieu chung bieu
hien mot benh tich lipid mo ludi gom cd:
- Nhdng trieu chiing a xuong vdi hinh anh hoc khuyet
trong xtfong so thay ro khi chup X quang (u vdng xtfong);

- U vang noi tang, gan - ldch to;

- Nhdng dau hieu trung nao - tuyin y in nhtf ddi thdo

nhat, ngtfng phat trien, nhi hod, hQi chtfng suy mdn hodc
phi sinh due.

Tri$u chtfng d mdt khd ddc trtfng, g6 m chu y£u mQt

loi nhan cau Id dau hieu thtfc stf cua benh cdnh 1dm sdng.
Bo mdt Id mot "bo mdt nhdi" (faci&s de grenouille); m$t
ntfa so' cac trtfOng hop co loi mdt, do tham lau u vdng vdo
thanh hoc mdt.

Cac lOp mo cua mdt deu co the bi tham ngam u vang

nhtf: ban vang d ket mac va cung mac dtfdi dang nhtfng
chat ngtfng dong mdu vang nhat, loan dtfdng gidc mac do
qua tai gom nhtfng not mdu xdm - vdng nhat tham vdo
nhu mo; ton thtfong d ddy mdt cd kha ndng gay xuat huyet
va dich ri hoac dong chat u vdng d vung hodng diem. Ton
thtfong gai thi (phu ne, viem thi than kinh hodc teo) Id
hau qua cua loi nhan cau.

309. HANHART (Hoi chtfng)

La mQt tap hop nhilu di dang cd nguon goc ngoai bi,

dtfac Hanhart mo ta ndm 1947. Gom c6 day stfng o gan
ban tay, gan bdn chan, tam than tri d<?n, loan phdt xtfong
hdm vd viem gidc mac loan dtfdng nong.

HQi chtfng ndy rdt gdn vdi hQi chtfng do Schafer mo ta.

184
 310. HANSEN (Benh)

La ten goi kha thong dung cua benh phong, do trtfc

khuan Hansen. Thtfdng hay gay ton thtfong d mat (50 den
80%) va co the d khSp cac bo phan cua m£t.
1. Ton thtfdng mi - ket mac: ton thtfang d da, vet cham
nhtf ban do, u phong, c6 kha nang xam lan va tham nhap
vao cac mo d mi, tao ra mot ve doi khi that khung khiep.
Hau qua thudng thay la rung long mi, long may va Ion bd
mi. Viem ket mac khong phai 16 dac hieu cua benh, mac dau
ngudi ta c6 mo ta nhUng u phong nho d ket mac sun. Chay
nude mat la do t6c cac dng dan thoat nUdc mat ra ngoai.
2. Ton thtfdng giac mac rat hay xay ra, do mat cam
giac giac mac va do cac tdn thtfang d mi. Ngudi ta phan biet
ra viem giac mac tang san vdi u phong d giac mac va viem
gi6c mac kieu nhu mo hoac c6 loet vdi tan mach phat trien.
3. Ton thtfcfng mang bo dao rat dac trtfng. Viem mong
m6t thtfdng cd nhtfng not nho mau tr6ng nhat d nhu mo
va din den hau qua la bit quanh dong ttf va tang nhan
ap thtf phat. Trong mot so' trtfdng hop, cac ndt d mong tu
tap lai, tao ra mot dam gia u, ttfc la u phong. Cac mang
sau cua m6t doi khi cung bi nhtf viem h6c - vong mac hoac
cd nhtfng not rdi rac d day m6t.
Tdn thtfong th£n kinh m6t hiem tha'y hon: hd mi do
li^t mat, liet v6n nhan ngoai lai v4 n<?i tai, viem thi th in
kinh rat hiem xay ra.

311. HARADA (Benh)

Hpi chtfng dtfdc Harada m6 ta ndm 1926, n&m trong

khuon khd nhtfng vi€m m&ng bd d6o - m6ng nao, v6 rat

185
gan vdi hoi chufng Vogt - Koyanaghi. Co the do cdn nguyen
nhiem khuan cd tinh chat virus.
Trieu chiifng gom co:
1. Nhtfng dau hi«?u mang nao - nao co phan ting
mang nao, doi khi cd hon me thtfc stf va nhtfng con co
giat. Dich nao - tuy cd tang albumin nhieu. Dudng di£n
nao ky thudng roi loan, ca d the benh nhe cung nhtf nang.
2. Nhtfng dau hi£u ve thinh giac kha kin dio, bieu
hien bang nghe k6m do nguon goc oc tai, can phit hi^n
bang thinh giac do.
3. Nhtfng dau hi$u d da: bac long tdc, rung ldng t6 c,
lang tr^ng da. Nhtfng trieu chting nky 16m cho b#nh inch
lai gan vdi nhtfng the viem mang bo dao - mang nao khac
(benh Vogt - Koyanaghi).

4. M o t hQi chtfng ve m at. Cac dau hieu d m it co the

la d hang dau cua benh canh lam sang. Bieu hipn mdi dau
bang mot viem thi than kinh thtfc stf cd giam thi ltfc, va
doi khi cd viem vong mac phu ne d ctfc sau. Ve sau, xuat
hien bong vdng mac kinh dien d cd 2 m6t, cd tinh chat
viem vdi cac dau hipu viem mang bo dao trtfdc. Bong vdng
mac cd dich ri, mdi dau d phia dtfdi, sau toan bp, khong cd
chd rach, cd ton thtfdng viem quanh tinh mach va due dich
kinh nang. Tien triln thtfdng la thuan loi va bong vdng mac
se dinh trd lai, de lai sac to rai rac vdi teo hac - vong mac

312. HARRIS (Hoi chtfng)

Chting nhtic ntia dau than kinh kich phat Wilfred Harris
(1920) cd dac diem la dau day than kinh mat va hdc mat
d mQt ben, cd k&m theo cac tri§u chting giao cdm vk d m it

186
nhu do mdt, chay nude mdt. Nhtfng con dau dau, dau day
thftn kinh the mi thudng xay ra v i dem cung gio trong
n hiiu tuan, va co xu the bien dan mot cdch tu nhien.

313. H A R T (Di tat)

Tat mu mau do khong hoan toan (protanomalie) hay di

tat Hart, la mot ton hai bam sinh ve cam giac mau sdc
n&m trong khuon kho nhUng di tat ve nhan thtfc 3 mau
co ban (trichromasies anormales). Benh nhan c6 stf suy
kem ve nhan thtfc thanh phan mdu d6, vd trong phuong
trinh so mau Rayleigh (do + xanh luc = vdng) thay mdu
do nhiiu qud. DuOng bieu diln dQ nhay cdm d mtfc trung
gian gitfa ngudi mu mdu do Dalton vdi ngtfdi binh thudng.
Pho so mdu cd stf suy sup d mdu do. Thuong s6' Rayleigh
la 0,7. Test Farnsworth 100 Hue cho biet cu the di tat ndy
theo true mdu do (gdn true n&m ngang). Stf chenh lech it
se giup phdn bipt di tat Hart hay tdt mu mdu dd khong
hoan toan vdi di tat Dalton hay tat mil mdu do.

314. H A S S A L - H EN LE (Tieu the)

Tieu the Hassal (1846) vd Henle (1866) Id nhtfng to

chtfc kinh loi to, to hoac nhd, phdt trien d chu bien gidc
mac, do su thoai hod thong thudng cua ldp n§i mo Desce­
met. Soi d&n khe thdy nhtfng not ddy d mang Descemet
nhu nhtfng 16 nho sdm toi n&m d phia sau gidc mac. Neu
nhtfng to chtfc loi ndy khu tru d trung tam gidc mac mot
cach tap trung thi se tao ra trang thdi nhtfng giot ntfdc d
gidc mac (cornea guttata), la thu pham gay ra nhtfng roi
loan v i th lm nhap vdo noi mo vd mdng Descemet (loan
dtfdng ngi mo Fuchs).

187
 315. H A U ST R A TE

(Xem FRANCESCHETTI - ZW A H L E N )

316. H EB R A (Ban do da dang c6 bong ntfdc).

Duoc Hebra mo ta nSm 1866, benh ban do da dang c6

bong ntfdc la mot thac the lam sang rat rong, vdi d ie diem
la len ban do co phu ne va dich ri 6 mfit da cdc chi, c<$,
than minh va doi khi d m$t. Niem mac c6 th i bi; nhilu
the' 16m sang da dtfoc mo ta tuy theo dinh khu v& mtfc d$
cua bpnh nhtf cac benh ngoai bi trot (ectodermose Erosive),
hOi chtfng Stevens - Johnson.v.v... Vi vfiy, c6 c bieu hi§n d
mat. neu co thi thtfOng la d cac the b e n h nftng (1101 chtfng
Stevens - Johnson, hoi chtfng Fiessinger - Rendu).

317. H E E R F O R D T

(Xem B E SN IE R - BOECK - C H A U M A N N )

318. H E ID E N H A IN (Hoi chtfng)

Hoi chtfng phoi hop cac bieu hien cua ti£n sa sut tri tue lao
suy (predemence senile) vdi noi kho, mat dieu ho6, nm ray.
ctfng dO, vdi mu mat do nguon goc vo nao co day mit binh
thtfong. Stf thoai hoa nao nay chu yeu la d thuy cham va cho
thay trtfOc la se ket thuc bi tham trong thOi gian ngftn

319. HEINE • MEDIN (Benh)

Ngudi ta thtfdng goi dtfdi cai t£n b$nh Heine ( 1840 ) va

Medin (1890) d l chi b$nh viem tuy x£m trtfdc cap tinh
kinh diln (poliomyelite antdrieure aigue).

188
 Chung toi k hong muon nhdc lai d day cac trieu churng
lam sang dtfc/c rat nhieu ngtfOi biet cua cac benh nhiem
khuan, dich te va hay lay do virus nay.

Trong trieu chufng hoc cua benh, liet van nhan ngoai
lai cd vi tri khiem tdn thoi. Tuy nhien, liet van nhan ngoai
lai cd the dung den ca 2 day than kinh van nhan cung
nhu day than kinh mat, dan tdi hd khe mi, gay viem giac
mac thu" phdt. L iet van nhan trieu chufng trong the benh
d cao thudng xuat hien d giai doan cap cua benh. Hay co
rung giat nhan cau, nhung thudng chi thoang qua. d tre it
tuoi, cd the chuyen thanh lac co nang. Ngudi ta cung co
mo ta liet cdc dong tac nhin vd nhufng tdn thucfng dr dong
tuf (gian ddng tuf do kich thich giao cdm hay hoi chufng
Claude Bernard - Horner). Soi ddy mdt thay trong mot so
trUdrng hop cd phu gai 2 ben tiep theo sau phu nao. Sau
cung, cdn luu y Id cd the cd benh phoi mdt do virus viem
tuy xdm: cdn luu y la the benh d cao cua viem tuy xdm cd
the gay ra b£nh lipt len cap Landry.

320. H E N C Y (Dau hieu mi)

Duoc Kestenbaum ndi tdi, ddu hieu mi Hency cd the xdc

dinh ro trong liet mdt; benh nhan khong the nhdm mi
ben mdt li#t nhe (paresie) md khong bdt buQC phai nhdm
ca mdt ben kia. Gia tri cua dau hieu nay ddng nghi ngd,
vi nd cd the thay d ngudi binh thudng trong trang thai
sinh ly khi d mot mdt cd tfu the troi ve phan bo' than kinh.

321. H EN LE

(Xem HASSAL - HENLE)

189
 322. HENOCH

(Xem SCHONLEIN - HENOCH)

323. H E N N E B E R T

(Xem MYGIND)

324. H E R R E R T (Tieu hoa hong)

Tir do Herbert (1907) d&t ra de chi nhtfng hot d ria hofic

d chu bien giac mac trong benh mdt hot va khu tru d dien
mang mau phia tren. Day 14 nhtfng not nho due Id md,
xung quanh co he thong tan mao mach nho.

325. H E R B E R T (Viem giac mac cham)

D t fg c Herbert mo ta n&m 1900, va thay d An Do, loai

viem giac mac cham, nong va nhiet ddi nay thtfdng xay
ra a m ot ben mfit va khong lay.

Ton thtfong la nhtfng ch6 loet nho, nong, b it mau, c6

ve nhtf nhtfng cham nho tron, lom d gitfa. Phan tfng viem
quanh giac mac khong nhieu.

Loai viem giac mac nay chu yeu d ngtfOi ldn.

326. H E R R IC K (Benh)

Benh Herrick (1910), mot benh thieu mau co hong cau

hinh liem, hoac benh hong cau hinh liem (drepanocytose)
la mot benh thieu mdu tan huyet di truyln va gia dinh,
dac biet xay ra d gio'ng ngtfOi da den hoftc co td tien da
den. Dac diem chu yeu la trong hong cau co huyet cau to
bat binh thtfdng la huyet cau to' S. Benh bieu hien dtfdi 2
hinh thdi:

190
 - Hinh thai n an g a ngUcfi dong hop tuf (homozygote)
co vang da, thieu mau nang, gan - ldch to, nhufng con dau
a noi tang va cac chi do cac vi huyet khoi gay ra boi "sir
tao hong cau hinh liem", khi giam bao hoa oxy trong mau
Luc bay gia benh chuyen bien den nguy kich d tuoi thanh
nien hoac trudng thanh.
- Hinh thai nhe d ngtfdi di hgp tiif, thtfdng la tiem
tang, phdi phat hien bdng cdch tim cau tao hong cau hinh
l iim . Cac bieu hien d mdt, ngay nay da biet ro va thtfdng
tuy theo mdc do nang, nhe cua benh, gom co:

. Cdc cLdu lucu a ket mac nhtf xodn vdng (boucles) mao
mach, gian mao mach d ket mac nhan cau;
. Huyet khoi a dong mach hoac tinh mach vong mac
doi khi gay ra viem thi than kinh thtfc stf;
. Benh a vong mac do huyet cau td' S bat thudng
(Hannon, 1956); tinh mach cong queo, tdc cac dong mach
nho v& tinh mach nho, seo sdc to hdc - vdng mac, can dich
ri dng dnh, xuat huyet dich kinh, viem vdng mac t&ng sinh
va sau cung la bong vdng mac. NgUdi ta cho rdng benh
vdng mac trong thieu mau hong cau hinh liem tien trien
qua nhieu giai doan:
Giai doan 1: tinh mach gian nd, vung phu ne khu tru;
Giai doan 2: vi phinh mach cd tan mach va chdp noi
dong - tinh mach;

Giai doan 3: xuat hien chay mau, dich ri va nhieu huyet

khdi;

Giai doan 4 :16 xuat hien cuoi cung, co chay mau dich kinh,
viem vdng mac t&ng sinh, bong vdng mac vh teo nhan cau.

191
 - Cdc van mach: (stries angioides): Ngtfdi ta c6 n£u len
nhilu l§n vi su phoi hcfp them nhtfng van mach vong mac
do dtft mang Bruch.

Chan do£n benh Herrick ph&i dtfa v4o stf c6 mfit cua
ckc h6ng c6u hinh lilm trong m4u vk dtfa v6o k§t qua di#n
di cho thay c6 cham hong diu S d4c tnmg.

327. HERTWIG - MAGENDIE (H$i churng)

Hien tuong hofic hpi chtfng Hertwig - Magendie (1833)

14 sir mat song h&nh gitfa 2 m6 t; 2 m6 t l§ch sang bin v i
khong can xtfng; mat d ben tin thuong thi nhin xutfng vk
vao trong, cdn m it kia thi nhin l§n v4 ra ngo4i. Stf l§ch
nhan cau co cung nay van ton tai mac cho mat nhin ve
htfdng nao. Hien tuong nay bieu lo stf doc lap cua cac dong
tac mdt, tuong Ung voi mot ton thuong noi so pham vao
cac dudng tieu nao va me dao, bo doc sau, dau nguyen
nhan la chan thuong, u ung thu lan rong hay ton thuong
mach mau. NguOi ta co mo ta nhtfng the bam sinh. Hoi
chtfng co the tao ra o sue vat thtfc nghiem b&ng cach cat
cuong tieu nao gitfa.

328. HIGASHI

(Xem CHEDIAK - HIGASHI)

329. HILDING (Hoi chUng)

Duoc Stephan Von G rosz noi tdi, hoi chung Hilding phoi
hop nhtfng ton thuong sun - khdp (sun stfdn. sun tai. trat
khdp nhe) vOi nhung trieu chtfng viem m ang bo dao man
tinh (hoi chtfng m ang bo dao - sun - khop).

192
 330. H ILLE M A N D

(Xem FOIX - HILLEM AN D)

331. H IPPEL (VON) - LIN D AU (Benh)

B enh u mach vong mac - tieu nao Von Hippel (1904)

va Lindau (1926) thuoc khuon kho nhurng hoi churng than
kinh - da (phacomatose) va nhtfng benh u mach thdn kinh
- mat. Benh co tinh gia dinh trong 20% so trudng hop va
t ru y ln theo kieu troi vdi tinh tham nhap khong hoan chinh
va do bieu hien thay doi.
Ve phuong dien giai phau benh, u mach la mot u mach
mdu (hemangiome) chuyen dang sang u nang. Trieu chufng
g om cd:
1. U mach v on g mac, duoc phat hien nhan mQt tinh
trang gidm thi luc hoac nhan mot hoi chting than kinh.
Trong mot ntia so cac trudng hop, bi ca 2 mdt: soi ddy
m6t, d giai doan ddu cua benh, thay gian mach d ca doi
dong mach vd tinh mach tti gai thi ra, ducfng di ngodn
ngoeo, ra den chu bien thi tan cung b&ng mot not u mach
nho, mdu do, loi ra phia trudc vong mac. Doi khi thay co
nhilu not u mach d vong mac.
Ve sau, bo mdt lam sdng rat goi y ta thay ro mot u mach
thuc sU, trdn, nhu hinh qua trting, trong dd cd doi dong vd
tinh mach chui vdo, mdu slm vd gian rat to. Xuat huyet vd
dich ri vong mac vay quanh u mach. Cuoi cung xay ra nhurng
bien co ndng tai chd nhu chay mdu dich kinh, viem vdng
mac tdng sinh vd glocom thti phdt tuyet ddi.
2 . MQt u mach tieu nao ra't hay phoi hop theo, hodc
cdn phdi phdt hien bdng cac x6t nghiSm thdn kinh vd

193
chup dong mach Luc bay giO u mach se din den mpt hpi
chiing tang ap luc noi so (ton thucfng nao that IV), cac dau
hieu tieu nao va doi khi xuat huyet a mang nao. U mach
nang hoa hiem khi o than nao va tuy. NhCifng con dpng
kinh va roi loan tam than c6 dupe neu len.
3. C ac nang u npi tang thinh thoang cd phoi hop vdi
u mach than kinh - vong mac, thudng khu tru a tuy, 16ch,
gan va than.

Tat ca nhurng bieu hien 16m sang khde nhau n£y hiem
khi dupe day du, nhimg can ph6 i tim ki£m m$t c6 ch cd h#
thong d ngtfdi benh.
Ngdy nay, phtfOng phdp quang dfing cho phgp ta giai
quyet duoc sOm u mach vong mac mot cach co hieu qua.

332. H IR SC H B E R G (Viem vong mac trung tarrn

Do nhtfng cong trinh nghien ctfu cua Hirschberg 1 1 & 9 0

- 1891) ma doi khi ttf nay dupe dung de chi benh viem
vong mac trung tam, co cham, vi xuat huyet va dich n , 6
benh dai thao. Do la bieu hien vong mac thudng hav co
trong benh dai th6o dudng.

333. H IR SC H P R U N G (Benh)

Dupe Hirschprung mo ta n&m 1888, chtfng to ruot ket

hoac to va dai ruot ket bam sinh (megacolon, megadolicho-
colon congenital) la mot benh cua tre tho au. ma trieu
chtfng co nang va X quang rat goi y.

Di dang ruot nay doi khi thay phoi hop vOi nhtfng di
dang mat kieu bam sinh, nhu viem vong mac sdc to co
rung giat nhan cau va due the thuy tinh bam sinh iWorster

194
Drought), trail dich nao co teo thi than kinh (Shafar) va
khuyet tat cua day than kinh thi giac (Giirich).

334. H O D G K IN (Benh)

N am 1932, Hodgkin da lay ten minh dat cho benh

lym pho hat ac tinh. Paltauf va Sternberg (1897 - 1898) da
thuc sU biet lap benh nay ra khoi cac benh bach cdu
(leucemies), cac benh viem va ung thu. Benh lympho hat
ac tinh kha hay gap va thudng xay ra d ngUOi tre. Benh
Hodgkin, ve dang lam sang thi dinh vdi ung thu, ve cau
tao md hoc thi dinh vdi viem. Trieu chufng chung co dac
diem chu yeu la noi hach nhieu, d nong va sau, gio'ng nhu
nhurng mo tan tao thuc sU, gay ra cdc trieu chufng chen dp.
Hach d nhieu noi; lach to, phoi, xuong, mang phoi, gan, da
lam cho trieu chufng hoc da dang. Lam sinh thiet, dem va
lam cong thufc mau se cho phep xac dinh chan doan benh.
Ndi chung thi ft thay cd bieu hien d mdt, vd nhdng bieu
hien nay cd le la do sU tdng san mo u hat.
- U hoc mdt boc lo bdng loi nhan cau, thudng d mot
ben, tien trien man tinh, cham vd tuan tien; chup X quang
thay nhufng cho ne cua xuong.

- Cdc bieu hien ve thdn kinh - mdt Id do cdc the benh

gia u gay ra nhufng trieu chdng chdn dp vdo cdc dudng thi
giac va van nhan. Vi vay md ngudi ta da mo ta cdc teo
thi than kinh, phu gai, hoi churng khe budm, hoi chdng gdc
cau - tieu nao, hoi chdng Claude Bernard - Horner, tdn
thuong day than kinh sinh ba,v.v...

- Trong qua trinh bien chuyen cua benh, soi ddy mdt
cd the thay tinh trang cdc mach mdu gian rong ra va

195
ngo&n ngoeo, xuat huyet vong mac dudi nhieu ve khdc
nhau. Cuoi cung, nguOi ta cung co noi den nhurng tdn thtfong
khu tru cu the hcfn nhung rat hiem thay nhu not d da mi,
hoi chtfng Mickulicz, viem gidc mac nong vd cdc tri#u chtfng
mang bo dao nhu u d mong mdt, viem mong mdt th£ kin
dao, viem hdc mac trung tam hodc chu bien.

335. HOEVE (VAN DER) (dd'u hi^u)

Benh viem nhiim d mui - xoang lan r§ng dfi'n htfc mdt,
doi khi gay nhufng trieu chufng ton thuong d ddy t.h4n kinh
thi. Diem mu to ra cd phoi hop hay khdng vdi mpt dm
diem trung tam (dau hieu Van Der Hoeve, 1910) 16 ddc
diem cua viem thi than kinh hdu nhan cdu.

336. HOEVE (VAN DER) (Hoi chdng)

Benh duoc nhiiu ngudi biet hon vdi cai ten Id benh
nhuyen cung mac thung (scleromalacie perforante), do Van
Der Hoeve mo ta ndm 1921. Ld mot benh ky di, doc ddo,
rat hiem thay, vdi dac diem 1a hoai tuf mo cung mac gav
ra nhtfng lo rd thtfc stf d cung mac. Nhuyln cung mac
thudng hay xay ra trong qua trinh viem da khdp ndng do
thap cd kem theo nhtfng not thap dudi da. Chu yeu la benh
tien trien mot cdch dm y, thdm ldng, khong cd mot dau
hieu co ndng vd viem nao, It nhat cung la trong nhtfng
giai doan ddu. Benh khdi phat bdng nhtfng vung gian mong
cung mac, mau xanh, xuat hien tren nhtfng mang hoac not
mau vang nhat 0 phdn trUOc cung mac, gitfa ria giac mac va
vung xich dao nhan cau. Qua trinh viem se lan vao sau, dan
dan gay ra mot ch6 thung d cung mac; cuoi cung hinh thdnh
mot dam hd rong da giac xung quanh nhan cau, cdch ngoai

196
giac mac mot khoang. O ngay dudi do, hdc mac bi lo ra,
va chi con duoc bao phu bdi ldp ket mac nhan cdu.
Kinh dien thi hSc mac khong bi gian loi ra. Rat hiem
thay nhan cau bi thiing thuc sU, neu co thi se kem theo
cac phan dng viem.

337. H O E V E (VAN DER)

(Xem LOBSTEIN)

338. H O L T E N M U L L E R - W IE D E R M A N N

(Hoi chdng)

Duoc cac tac gia mo ta ndm 1960, 14 hoi chdng da di

dang, xay ra d tre rat it tuoi, gom co di dang so hinh 3
la (en trefle), cd tran dich nao, chi ngdn va ban tay dinh
ngdn. Cdc di dang d mdt di kem theo vd cd the gay ra teo
thi than kinh nhu trong moi roi loan xuong so. Sau cung
can neu len nhufng di dang d xuong mdt, mui va ham.

339. H O L T H O U S E - B A TTE N

(Thoai hoa hoang diem)

Loai thodi hoa hoang diem nay, duoc Holthouse va

Batten mo ta ndm 1897, ndm trong khuon kho nhtfng thoai
hod kinh vung gai - hoang diem. Hinh anh day mdt g6m
nhieu cham nho, trdng, nhieu d xung quanh gai va phia
vung hoang diem. Nhufng cham nho trdng - vdng nay hinh
cham tron, hodc chieu ngang rong hon (dudng kinh gap 3
- 4 ldn dudng kinh mach mdu vong mac), cd ve khong dung
den vung phia mui cua ddy mdt, vd khong cd sdc to kem
theo. Gai thi mdu sdc vdn binh thudng va mach mdu vong

197
mac k hong thay doi. Chufc nang thi giac it thay ddi
(Holthouse va Batten, Bickerton). The loai l§m sang nky
co ve giong nhUng thoai hoa vong mac khac nhu vifem hdc
mac giot choroiditis guttata) va thoai h6a hoang diim
Doyne theo kieu "tang to ong".

340. HORNER
(Xem CLAUDE BERNARD - HORNER)

341. HORTON (Benh)

Duoc Horton tach biet ra vi mat lSm sang nam 1932, bgnh
nay thuoc nhufng benh chat tao keo, co dac diem la viem dong
mach dau, nhieu nhat la o vung dong mach thai duong.

Benh thuong xuat hien o nguOi Ion tuoi, gom nhung con
dau viem dong mach thai duong vdi nhufc dau duf doi, nhat
la o thai duong va co the lan len dau. The trang chung co
bi ton hai, sot nhe, toe do ldng mau tang va thieu mau.
SO nan, doi khi thay co sU biih d6i d dong mach thai
duong nong, nhu mpt soi day thifng rdn, cufng, Ion nhon
nhufng not. Lam sinh th iet d dong mach thai duong nong
cho thay nhufng ton thuong dac trung cua viem dong mach
dang u hat co te bao khong lo.

Bien chufng d mdt thay co khoang 50% cac truOng hop.

va lam cho benh nang them; bien chufng la do viem dong
mach khu tru or cac mach mau nhan cdu va hoc mdt. Doi
khi, cac bieu hien 0 mdt md dau benh canh lam sang.

Loi mdt tam thcJi va han che dong tac van nhan thudng
la vo hai. Bien chufng thi giac mdi dang so va co tinh chat

198
bi tham. Mu dot ngot m ot mdt va ca hai mdt la bieu hien
thuong gap. Co the mu don thuan hoac phoi hop vOi nhufc
dau xay ra trong can tien trien hoac sau con. Doi khi co
nhung can nhin ma ch oc lat (crises d’amblyopie transitoire)
xay ra trudc khi bi mu.

Hinh anh day mdt co nhilu ve lam sang; thuong hay

thay nhat la phu ne thieu mau dr gai thi (gia viem gai
mach) vOi dla thi bi phu va tai nhat, co k&m theo cac ke
xuat huyet doc theo mach mau. Doi khi thay co mot tdc
nghen d dong mach trung tam vong mac hoac a mot nhdnh
cua no, tao ra phu vong mac kinh dien vOi hoang diem do
noi bat. Cung co the co benh canh lam sang cua mot viem
thi than kinh cap. Dau the ndo thi cung chi trong it ngdy
hoac it tudn, se ket thuc bdng teo thi thdn kinh vlnh viln
vk mil. Ngoai nhufng dau hieu ve teo thi than kinh, soi ddy
mdt cdn thay nhufng ddu hieu c6 lien quan den mot xo
cufng dong mach vong mac.

Dieu tri lau dai bdng Corticosteroid c6 the phan nao

phOng ngCra dtfgc cac hien tuong thieu mdu cuc bo d vong
mac vd thi thdn kinh.

342. HUDSON - STAHLI (Dtfdng)

Duoc Hudson mo ta ddu tien ndm 1911, sau dd 14 Stahli

sinh 1918, day la mot dudng sdc to d gidc mac thay duoc
bdng soi sinh hien vi, thudng gap cr ngtfdi gid tren 50 tuoi.
Day la mot dudng vien cd sdc to', doi khi mau vang nhat
hodc xdm nhat, d cdc ldp nong giac mac, chay theo chilu
ngang d doan tiep gidp giufa 1/3 dudi va 1/3 gitfa cua gidc
mac, tufc la d di$n khe hd cua mi mdt. Stf tham nhap vao

199
cac ldp nong nhat cua nhu mo bdi cdc chat Idng dong
hemosiderin hoac sSc to ttf ria vao, c6 th# 14 do ttf nhtfng
chd ntft ne cua mang Bowmann. Cdn thdy stf tuong ttf vdi
vong Fleischer gap trong gidc mac hinh chdp.

343. HUGHLINGS - JACKSON (Dau hieu)

Nho cocain cho phdp chan dodn phan biet gitfa sup mi
do liet (ton thuong day III) vdi sup mi giao cam (ton thuong
co sun tren); trong sup mi giao cdm, nho cocain khong gfiy
gian dong ttf (dau hieu Hughlings - Jackson).

344. HUNT
(Xem TOLOSA - HUNT)

345. HUNTER
(Xem HURLER)

346. HURLER (Benh)

Benh nay duoc Hunter mo ta trudc nSm 1917, den nSm

1919 duoc Von Pfaundler vd Gertrud Hurler nghien ctfu
sau hon. Cho nen benh mang ten khdc nhau cua nhtfng
tac gia nay; ngodi ra, benh cdn dUdc goi bdng nhtfng ten
khac nhu loan phdt nhieu xuong, loan dudng md - sun (lipo
- chondro - dystrophie) va da loan dudng (gargoihsme
Hoi chtfng nay ndm trong khuon khd rong ldn va phuc tap
cua cac benh mucopolysacarit. Thuc ra, benh Pfaundler -
Hurler co ve tuong tfng vdi mot roi loan chuyen hoa giong
nhu co tinh chat enzym cua cac mucopolysacarit acid dan
tdi mot sU xam lan thuc thu vao nhidu co quan va md nhu
gan, hach bach huyet, lach, sun, bach cau, giac mac va he

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than kinh. Stf tham nhap nay xay ra trong noi te bao. Cac
xdt nghiem sinh hoc cho thay co nhufng hat Alder - Reilly
va Gasser trong bach cdu, co tuang bao hoc (plasmocytes
vacuoles) trong tuy (te bao Buhot). Dinh ltfcmg mucopolysa­
carit trong ntfdc tieu cho thay ty le t.&ng cao. Do d6 co the
chdn dodn benh da loan dtfdng bdng xet nghiem sinh hod
hoc vd cho phdp phat hien ra nhtfng the benh chtfa ro rang
(formes frustes).
B enh Hurler xay ra d ca nam va ntf vdi tdn so bdng
nhau. Cdc b en h dn lam sang doi khi cho thay tinh chat
dan phat ma k h on g co m ot yeu td gia dinh nao. Tuy nhien,
cdc cdng trinh nghien ctfu vd di truyln hoc nhd'n manh
den tinh cha't di truyen cua benh, vd thudng thay di truyen
theo phtfong thtfc ldp autosom.

Su tdng hdm ltfong mucopolysacarit trong ntfdc tieu cd

vd chi ra tinh trang dd c6 di san xd'u (tare) d ngudi di hop
tuf (porteur hdtdrozygote) trong thd' he trtfdc ho&c d con cdi
md tren lam sdng v in binh thtfdng. Thtfdng thdy cd tinh
trang bd' me cung huyet thdng. Cung cd trtfdng hop di
truyen theo kilu ldp lidn quan vdi gidi tinh, chi ddnh vdo
nam gidi vd do me truyen lai. Cd nhtfng cdng trinh nghien
ctfu ve di truydn hoc vd sinh - hod hoc cho bid't cd nhilu
kieu sinh - hod hoc trong benh da loan dtfdng. Trang thdi
mucopolysacarit nUdc tieu c6 the’ thay doi d ngtfdi di hop
tuf, tuy nhien neu ho lay nhau thi cd the ddn den mot da
loan dtfdng hoan chinh.

- C ac tr ie u chufng chinh, ddi khi xuat hien rd't sdm

d 1 tudi, vdi nhtfng ddc diem Id di dang xuong so - mdt:
ddu hinh thuyIn (scaphocephalie), 2 mdt cdch nhau qud

201
xa, tran do, tf6n song mui, moi ddy va tfdn treu ra. ltfdi
to, loan dudng r&ng (ddu nhu mieng dng mdng). Mat khac,
co them nhdng roi loan ve phat trien xuong vdi chung lun,
dlin den gu lung - cot sdng cd det dot sdng (platispondylie)
va di dang d cac dau xuong, nhat la xuong co tay v4 xuong
ban tay. Suy giam tri tue, din den mot stf tri dpn thtfc stf.
Sd nan bung thudng thay gan to, ldch to. Sau cung 14 nen
luu y den tinh trang gian long co - da cua v4nh dai quanh
bung, tao ra thodt vi ron, thodt vi ben.v.v.... Chup X quang
cho thay ao yen rong ra, cham cot hod d cdc diem dau
xuong dai, det va lech lac cac dot xuong song.

- Benh Hurler tien trien khdc nhau. (J m$t s6 the b#nh,

co tien luong nang, td vong vao khoang 10 tuoi trong mot
benh canh suy tim hodc tf tic ho hip vdi nhiim khuan
xay den. Cd nhtfng the b|nh khdc, tien trien ttf ttf va hoan
chinh dan qua nhilu nfim. Benh nhan 14 nhtfng ngudi tan
phe nghiem trong, tri dpn v4 cd th i keo dai den tuoi ldn

> Tri^u chting d mdt, chu yeu 14 tich lipid md ltfdi gidc
mac d cA 2 m it, trong hon 70% cac trtfdng hop; gidc mac md
due tin man, nhtf ddm may, thtfdng nhin bing mit cung
thay. Ddi khi, chi soi b&ng sinh hien vi mdi phat hien ra
dtfgc nhtfng chd md due hinh cham hodc dam md hcri tring
chiem ca dien tich giac mac, v4 thtfdng troi hon a 1/3 trtfdc
giac mac. Nhtfng cham nay doi khi rat tinh vi, dac biet hay
d vung chu bien ngay sat ria giac mac. Ve nguyen t i c thi
khong co tan mach va khong roi loan cam giac giac mac
Giam thi luc tuy trudng hgp nhtfng thtfdng khong nhieu

Xet nghiem mo hgc cho thay ton thtfong d phan trtfdc

cua nhu mo nhieu hon. Khoang gitfa cdc 14 (espace in-

202
terlam ellairej rong ra, hi tach rdi va gom mot dam hat co
nhieu cham nho; bieu mo giac mac thudiig nguyen lanh. Thay
co ton thtfcfng d cac te bao day gan mang Bowman, nhtf co
hoc (vacuolisation), phu ne va cang phong do mot cai mang
co mau s&c khac. Cho nen cac to chtfc gia u nang cua te bao
day d bieu mo cung vdi stf pha huy mang day cf mot vai cho
co ve nhtf la mot dac diem cua ton thucfng giac mac.
- C on thay nhUng bieu hien khftc of mftt nhu glocom
bam sinh, giac mac to, khuyet m ong mdt, due the thuy
tinh bam sinh, lac mat va ton thuong d mi. Sau cung la
nhufng phoi hap vdi ton thuang thoai hoa vong mac, dac
b iet la vie m vong mac s&c to.

Ve trieu chufng hoc, co mot vfti benh gin gio'ng vdi hoi
chufng Hurler nhu:

- Benh Morquio (1929). Hoi chufng nfty rat gan gui vdi
benh Hurler, truyen theo kieu ldp autosom, thudng 111 loan
dudng sun thuoc cftc loai benh mucopolysacarit. Di dang
hinh thfti nghiem trong nhu lun nhieu ngay ttf luc 1 - 2
tuoi vdi xuang uTc nho ra trUdc, det dot song, gii lung - cot
sdng, goi veo vfto trong (genu valgum), bftn tay veo, dui
cong vao (coxa vara), nhao cftc khdp co tay vft ngdn tay.
Di dang d mat it hem trong hoi chufng Hurler vft tri tue
van duac nguyen ven. Thudng bi thinh gidc kem. Ton
thuang noi tang it hoac khong cd; tham nhap giac mac
cung vay. Tuy nhien cung cd mdt so' b£nh an duac mo ta
(benh Morquio - Ullrich, 1943) la cd hoi chufng loan dudng
giac mac kinh dien cua benh Hurler.

- Maroteaux (1961) co mo ta chufng lun da loan dudng

lft mot the benh di truyen khac. Day 1ft stf loan san dot

203
song - dau xtfcmg muon (dysplasie spondylo - epiphysaire
tardive) phdt hien vao khoang 10 tuoi, trong do cdc chi
ttfang doi nguyen lanh so vdi cdc dot song. The benh ndy
di truyen, lien quan vdi the n h i i m s i c X.
Cuoi cung, chung toi neu len mpt vdi bi£n th§ ldm sdng
khdc cua hoi chting Hurler vd Morquio, phdt hien bdng x6t
nghifm h6a hoc ntfdc tieu.

- Hoi chdng Sanfilippo (1961): di truyln 16p autosom,

cd tdng heparitin sulfat trong ntfdc tilu.

- H6i chiing Scheie (1962): di truyen I6 p autosom, c6

tdng chondroitin sulfat B trong ntfdc tilu.

347. H U T C H IN SO N (Viem gidc mac)

T en goi benh viem gidc mac khe nhu mo kinh dien do

nguon goc giang mai thudng la bam sinh, vd han htfu mdi
la hau phdt (Hutchinson, 1858 - 1863). Chung toi khong
cdn phai mo ta lai cai benh nhieu ngtfdi biet nay, ma ngay
nay ft con thay. Benh tien trien trong nhieu thdng vdi
tham lau, tdn mach d gidc mac vd ve sau tieu bien di, de
lai nhting ton thtfang viem d bdn phan trtfdc. Nhtfng bien
doi d gidc mac do di chtfng de lai dtfdi dang nhting day
mach t&c nghen d ldp sdu gidc mac, ket hop vdi test chan
doan benh giang mai, cho ph£p ta chan dodn hoi ctfu nhurng
the benh cu vd da lam seo. Can chu y, hay thay co tat
can thi vd cdc tdn hai hdc - vong mac, cung lam cho thi
ltfc giam. Hien nay, vdi cdc phtfang phdp dieu trj va du
phdng benh giang mai, cdc thuoc cortico - steroit da 1dm
bien doi sau sdc tdn so ngtfdi mile benh vd dien bien lam
sdng cua loai viem gidc mac ke nhu mo ndy.

204
 Chung toi nhSc lai a day cac nhan to tao thanh bo ba
trieu chufng H utchinson cd lien quan vdi benh giang mai
di truyen va cac di dang ciia no:
1. Viem giac mac nhu mo ot ca 2 mat, co tan mach;
2. T on hai d rang (rang Hutchinson); cac rSng ciifa tren,
giufa va vlnh cufu co hinh tuocncfvi't (dung cu van dinh vit),
cd rang rong hon d l u rang, va dau rang co the bi lem
khuyet. Cac rang cufa cung m oc xa nhau, cam cheo va khong
co men rang. Soi xuyen co the thay ro tdn thucmg cr cac
rang vlnh ciifu khac.

3. Diec tir tu-, nang do tdn thucfng me dao.

Ve cac dau tfch khac cua giang mai bam sinh, khong
thuoc pham vi mo ta cua chung tdi of day.

348. H U T C H IN S O N (Hoi chiing)

Hoi chiirng Hutchinson tuong ting vdi nhting di can vao

hoc m it cua nhting u thuang than d tr£ em. Nam 1907
Hutchinson cd bao cao ve 10 trudng horp u thuong than cd
di can vao xuong va so. Ng&y nay, ngudi ta thtia nhan ring
nhting u l y la nhting u nguyen bio than kinh thuong than
(neuroblastome surrenalien) gap d tre rat it tuoi, vao
khoang 2-3 tuoi, han htiu d tre ldn hcfn. Ung thu thuong
than cd th i gfiy ldi nhan clu do u khu tru d thai dtfcfng
va hoc m it, trieu chting ldi m it nay ddi khi cd gia tri phat
hien benh. Doi khi ldi nhan cau manh or mot ben m it,
han htiu 2 m it, mdi dau cd xuat huyet d mi. Chup X quang
xac dinh sU xam lan vao xuong. Di can thai duong - hdc
m it cua hoi chting Hutchinson bieu hien su lan rong nhanh
cua u nguyen b&o th in kinh thuong than.

205
 349. HUTCHINSON (Bo mat)
Trong qua trinh cua hoi chiifng goi la liet vfin nhan
ngoai lai, do nhan, tuan tien ma thudng hay xay ra a ngudi
tre, dan dan hinh thanh sU bai liet cdc ca ngoai lai cua
mat, trong khi d6 thi bp c0 n<?i tai v£n nguyen ven.

Sup mi Id dau hieu dau tien, x&y ra ngay hodc rat nhanh
d cA 2 m£t, sup mi kh6 ng on dinh, v& thong thudng khi
tien tri£n den giai doan cud'i cung thi sup mi it nhieu dtfoc
hodn chinh. TCr d6 tao ra b$ mdt Hutchinson d&c trung cua
benh:
- Benh nh&n c6 v i nhu budn ngu, 2 mi sup nura vdi.
- Dau nga ra sau, co tran co cUng lai;

- Mat cufng da va nhin thang, co djnh.

350. H U TC H IN SO N (Viem mong mat am n

Benh viem mong mat tham lang Hutchinson (quiet -

iritis de Hutchinson) thuang xay ra a phu ntf vao tuoi man
kinh. Viem mang bo dao ca 2 m it va tien trien mot cach
tuyet vong den man tinh va tai dien. Trieu chting ca nang
kin dao, tham chi khong thay. Tir tir se tao thanh dinh
mong mat - the thuy tinh, dinh quanh d6ng ttf va due the
thuy tinh bien chiifng. Doi khi gay ra glocom thu phat va
lam rac roi them viec dieu tri loai viem mong mat nay
ma can nguyen chua ro, co the la do noi tiet hay gi day.

351. H U TC H IN SO N (Quy luat)

Quy luat goi la cua Hutchinson, cho rang ve nguyen

tac, tat ca nhtfng bien chtfng vao mat cua benh zona mat

206
ro rang la phai phu thuoc vao ton thtfcfng ciia nhanh mui
- the mi ciia day than kinh mSt Willis (V j ).

352. H U T C H IN SO N (D6ng ttf)

Dong tiif Hutchinson ttfcfng tfng vdi gian dong ttf tuyet
doi co mat hoan toan phan xa quang - van, trtfc tiep va
dong cam. Doi khi tiep theo sau mot. giai doan thu dong
ttf tam thcfi, loai gian dong tiif do liet nay xuat hien trong
nhtfng bien chtfng cua ton thtfang so - nao. Neu gian a mot
ben thi gai y v6 m ot boc mau sau chan thtfang va gian
cung ben vai boc mau. Hien ttfang dong tiif nay ma gia tri
chan do£n khong dac trtfng dtfac giai thich bdng stf bi chen
ep cua than day than kinh van nhan chung (day III). Cuoi
cung nen lull y la co the gian dong tuf ca hai ben va cac
trieu chufng dong tuf co the khoi.

353. HUTCHINSON (Tam chtfng)

(Xem HUTCHINSON - VIEM GlAC MAC)

354. HUTCHINSON
(Xem GILFORD - HUTCHINSON)

355. HUTCHINSON - TAY (Viem hdc mac)

Vi§m h^c mac Hutchinson - Tay (1875) duac nhieu ngudi
biet han dudi cai ten viem hie mac giot nude (choroiditis
guttata).
Su loan dudng ddc biet nay cua cue sau tuang tfng vdi
mot thodi hod kinh co the keo (corps colloides) or vung gai
- hoang diem. Benh dtfcfc mo td of trong mot gia dinh co
ngtfcfi tren 40 tuoi vd xay ra 6 ngtfdi gid. Soi ddy mdt thdy

207
cd nhtfng o tron, nho, mau tring - xdm nhat, tu tap xung
quanh hoang diem va gai thi. Gai va mach mau vdn binh
thudng, khong thay phan tdn sic to. Benh d ca 2 m it, can
xtifng va lam giam thi luc. Ngdy nay, c6 ve nhu benh canh
lam sang nay thuoc khuon kho cdc thodi hod kinh d cuc
sau ma dac biet gom co thodi hod hodng diem Holthouse
- Batten, thodi hod kieu tdng to ong Doyne vd Malattia
leventiese.

356. IR V IN E (Hoi churng)

N&m 1953, Irvine nhan manh ve mot bien chung sau

phlu thuat due the thuy tinh, do rdch thur phat va muon
mang hyaloit va nhufng cho dinh dich kinh a trong tien
phong. Nhieu tuan hoac nhidu thang sau mot phau thuat
due the thuy tinh binh thudng, xay ra mot hoi churng vdi
cac dac diem sau day:
- Cdc hien tuong kich thich d m it nhu vong cuong tu
quanh gidc mac, so anh sdng;
- Thi luc giam khd nhieu;
- Co ton hai d vung hodng diem;
- Cuoi cung la nhurng bien doi cua phdn trudc dich kinh,
phat hien bing soi sinh hien vi qua dong tuf; dich kinh co
the dam dac lai va gay dinh d mdt sau vet rach md giac
mac.

208
 Nhu vay, hoi chting nay la mot bien co cua phan trUcrc
dich kinh, xay ra trong qua trinh mot phau thuat due the
thuy tinh.

357. IW ANOFF

(Xem BLESSIG)

358. JACCOUD - OSLER (Benh)

Benh viem mang trong tim nhiem khu^n, tien trien

cham, Jaccoud (1882) va Osier (1885) gdn them vao nhurng
tdn thuong van tim cu, tao thanh mot trang thai nhiim
khuan huyet vdi ca loat cdc bieu hien nghen mach. Bien
chtfng or mdt xay ra han htfu vdi mot stf tdc nghen dong
mach trung tam vong mac. Doi khi co trang thai lam sang
cua viem vong mac nhiim khuan Roth (xem ten nay).

359. JACKSON (Hoi chtfng)

Hoi chtfng cua than nao, khu tru or hanh nao, tap hop
mot liet day th in kinh X, liet day than kinh XI va XII.
Co the phoi hop them mot hoi chtfng Claude Bernard
- Horner vd mot rung giat nhan cau kieu xoay.

360. JACOB (Loet)

Do Jacob mo ta (1827), loet nay tuong tfng vdi lam sang

cua ung thu te bao ddy d mi, tien trien cham, gay ra loet

209
nao sau t h t f c stf (ulcus rodens). Ung thtf biew mo tien dan ttf
trung tain ra chu bien, duoc vien nhtfng not nho ndi len tren
mot nen ran Loet lan rong ttf ttf, thtfdng khong dau, tao ra
mot mieng lom thtfc stf o vung hdc mit, vung mui.v.v...

Khong co hach xam lan hoSc c6 muon v& do boi nhiim

khong di can.

361. JAC O B

(Xem CREUTZFELB - JACOB)

362. JA C O B (H^i chtfng)

Hoi chtfng nga ttf da - btfdm co dSc diem IS tdn thtfong

cac day than kinh so o mot ben, thtfdng do stf xam lan cua
ung thu (saccom nen so, u bieu mo mui - hong). Trieu chtfng
khdi dlu la liet day than kinh VI va hoi chtfng Claude Bernard
- Horner do tdn thuong mom xUcfng da. Qua trinh ung thu
lan ra trUdc se gay liet toan bo van nhan (III, IV va VI), tdn
thuong thi than kinh (II) (co am diem trung tam hoac mu),
va dau nhtfc do day thin kinh sinh ba (V). Co the phoi hop
them diec vao hoi chtfng nay, ttfong ttf nhtf hoi chtfng dinh
hdc m it va hoi chtfng Godtfredsen.

363. JA C O B (Tam chtfng)

Trong qua trinh tien trien cua nhtfng ton thtfong a vung
tuyen yen vao giao thoa thi giac, co the thay bo 3 trieu chtfng

- Liet van nhan toan bo

- Mu

- Dau day than kinh sinh ba.

21 0
 Nhif vay, ton thuong ca day than kinh thi giac, day than
kinh van nhan va day than kinh sinh ba (til II den VI)..

364. JA C O B S O N (Viem than kinh - vong mac)

Viem than kinh - vong mac toa lan do giang mai

Jacobson bieu hien bdng mot viem gai thi vdi suy sut thi
ltfc nhanh va co am diem trung tam rong. Vung vong mac
quanh gai cung bi phan tfng phu ne; due dich kinh nhieu,
tinh mach vong mac gian va dong mach thu nho lai.

Den giai doan lam seo, xuat hien cac ton hai s&c td cf ctfc
sau, co teo hac vong mac va teo gai thi a mot mtfc do nao do.

365. JAFFE - LICHTENSTEIN (Benh)

Benh loan san xo hay loan san xo d nhieu xtfong, trong

the benh thong thtfdng gom cdc tdn thtfong d xtfong, chup
X quang thay xuong sang (radio - transparent). Tuy vay,
trong mot so trtfcfng hop, ngtfdi ta thay do dam cua xtfong
tSng them va than xtfong rong ra. Tdn thtfong d so la
xtfong dam dac, day them (hyperostose) lam hep mot so
16 d nen so va gay tdn thtfong cho cac day than kinh so
d do, dac biet la gay teo thi than kinh.

366. JAHNKE

(Xem STURGE - WEBER - KRABBE)

367. JANSKY - BIELSCHOWSKY (Benh)

Chtfng ngu va mil muon Jansky (1910) va Bielschowsky

(1914 - 1921) xay ra d tre ttf 1 den 2 tuoi, vk khong phai
chi xay ra d gidng ngtfdi Israel nhtf trong benh Tay - Sachs.

211
 Mat khac. benh tien trien chain hem. k6o dai trong nhiiu
nftm va. tuy vay, v i n dan den mu vd ttf vong. Ndi bat nhfi’t
la nhdng trieu chufng tieu nao vdi stf mat dieu hoa
Cac bieu hien cf mat cung khac hon, cham do anh dao
hoang diem it khi thay; ngtfcfc lai, soi ddy m it thudng thfi'y
cac ton hai sic to va thoai hoa d hoang diem theo thi
benh Batten - Mayou (xem hoi chufng nay).
Them vao cac ton hai hoang diem, cdn cd teo thi thAn kinh.
Xet nghiem mo benh hoc cho thay gangliosit tham ng&m
vao cac thanh phan cua he th in kinh va vong mac, diiu
nay xac nhan stf gan gui ve dac tinh b#nh ly gitfa ttft cd
cac t h e lam sang cua benh ngu - mu. Thuc te la co su thoai
hoa mo cua te bao hach vong mac phoi hop doi khi vdi
nhung ton hai thoai hoa cua he thin kinh - bieu mo
Benh di truyen theo kieu lep.

368. JA Y L E V A O U R G AU D (Hoi chtfng)

Hoi chtfng Jayle \a Ourgaud (1939) la mot hoi chtfng

Foville khong dien hinh vdi dac diem la co ton thtfong cac
dong tac nhin ngang cua m it.
Roi loan cac dQng tac nhin ngang theo y muon
nhtf sau:
- Nhin binh thudng d vi tri nguyen phat;
- Khi liec m it nhin sang ben thi thay liet d mot hudng,
liet ro hcfn d ben m it dua vao, cdn d ben m it dua ra thi
chi bieu hien bing rung giat nhan cau.
Hoi chtfng co the bieu hien d phtfong thtfc nhe hon nhtf sau:
- Hodc la chi rung giat d mdt ben mit dtfa ra;

212
 - Hoac la rung giat a ca 2 mdt khi diTa m i t nhin ngang,
bien do cac dong tac rung giat khong can xtfng gitfa 2 m it
ma troi ro hon a ben m at dua ra.
Nhtf vay thi hoi chtfng Jayle va Ourgaud co 2 dac diem
cc( ban la: liet nhin ngang troi hon d mat dua vao va rung
giat bien do rong hcfn a mat dua ra, dau hieu sau thay ro
hon d the benh nhe. Sau cung, doi khi ta thay co ton hai
cac dong tac nhin ngang va quy tu theo y muon, cung nhu
co sU chenh lech cua rung giat gay ra d trong m ot hudng
nhin hoac trong tat ca cac hudng nhin.
Cac tac gia nhan manh ve tim quan trong cua benh xd
ctfng rai rac (sclerose en plaques) trong nguyen nhan gay
ra hoi chtfng than kinh cuong nao n&y.

369. JEFFERSON
(Xem RAEDER)

370. JEGHERS
(Xem PEUTZ - TOURAINE)

371. JELLINEK (Dau hieu)

Duoc mo ta trong benh ctfofng tuyen giip: s ic td' nau d
mi tren va quanh hoc m it (dau hieu Jellinek). C6 nguon
goc thucfng than. Hinh nhu khong dac trtfng cho benh
Graves - Basedow.

372. JENSEN (Viem h ie - vong mac)

Benh viem h ie - vong mac ngay canh gai Jensen (chori-

oretinite juxta - papillaire de Jensen) (1909), do vi tri khu
tru ma c6 dang lfim s£ng vk tien triln rfi't dSc biet.

213
 La mot viem hie mac co o ma can nguyen cung giong
nhd trong cac viem hdc mac khac, nhung vi tri 0 ngay gai
thi hoac ngay sat gdn gai thi. Vi the md c6 su nham lan
vdi viem gai thi (papillite). Cdc ton hai cua soi thi than
kinh ro rang v k dac tnmg. Cho nen trong qua trinh tien
trien cua viem hdc mac c6 ca sif tham gia cua gai thi (dla
gai sung huyet va cuong tu), cua dich kinh, do thi tn/Ong
se thay cu the cdc ttfn hai nhu c6 dm di£m tuyet doi dinh
lien vOi diem Mariotte, vet thi tnrOng theo hinh ch£m
(amputation cunliforme) ddy d ngoai bifin, dm di£m v6ng
cung. Ton hai b6 soi nhtf vay Id thay ddi tuy theo vi tri
cua 8 viem so vdi kinh tuy£n cua gai thi
Ton hai thj trudng co the vinh vien, va nguon goc cua
no dddc chdng thde bdng dam teo c6 sdc to a ngay canh
gai thi Di nhien la cdn phai ldu y den tinh chat nghu'-m
trong neu ton thdcfng khu tru phia thai ddong. vi no cat
ddt bo gai - hoang diem va tao ra am diem trung tam -
diem mu (scotome centro - coecal).

373. JOFFROY (Dau hieu)

Trieu chdng nay - thde ra thi rat phu - thuoc cac dau
hieu co rut mi trong benh cddng tuyen giao Graves -
Basedow; dau hieu nay la khi dda mdt nhin ler. khong
thay co nep nhan trail.

374. JOHNSON
(Xem STEVENS - JOHNSON)

375. JONKERS
(Xem WAARDENBURG - JONKERS)

214
 376. JU N IU S VA KIIHNT

(Xem COPPEZ - DANIS)

377. K A H L E R (Benh)

Benh Kahler (1889) hay benh da u tuy xtfdng (my^lome

multiple des os) c6 dac diem la phat trien nhieu o tan san
rai rdc trong tuy xuong. Cac not ung thu r£t nhieu va
thudng xam la'n vao cac xUcfng dot song, xuong so va ca
cac xUOng dai. Ve mo hoc, c6 nhieu the loai nhu u tuong
bao (plasmocytome) u nguy§n tuy bao (my^loblastome), u
nguyen bao lympho (lymphoblastome),v.v.... Benh xay ra
d ngUOi gia tren 50 tuoi. Trieu chUng gom c6 dau, di dang
xuong va gay xuong tu phat. Chup X quang bo xuong, tha'y
nhUng ch6 mat chat xUOng, hinh trdn, ro rang va d nhieu
noi. Dong thOi c6 ca tinh trang mat calci tan man. Chan
doan b&ng cac x6t nghiem nhu thuf mau, thti nude tieu c6
albumin Bence - Jones va nhat la choc tuy tic. Tien trien
den tuf vong sau it thang.

Trieu chting 0 m it, chu yeu la u khu tru d hoc m it,

quanh hoc c6 loi nhan cau, va d trong so. Tti d6 gay ra
teo thi than kinh, liet van nhan va doi khi cd hoi chting
tang ap luc noi so.

215
 Sau cung la can ltfu y den nhCfng dau hieu o mat do
viem than nang hoac do cac the xuat huyet co loan globulin
huyet va co cryoglobulin huyet (xem Waldenstrom).

378. KAPOSI (Benh)

U mach - te bao ngoai mac (h6mangio - p£ricytome), hay

saccom xuat huyet la mot thtfc the lam sang cd u dtfoc Kaposi
mo ta n&m 1872. Dac diem cua benh la c6 u mach cau tao
bkng nhufng mao mach m6c noi vao nhau va tdng sinh saccom,
goi len dfa true cua mdt saccom xo (fibrosarcome).
Benh ndy rfl't hidm. Bieu hien b&ng nhtfng ndt nho a
da, mau dd nhat, hodc nhtfng nd't chfim sin d diu c^c chi.
Saccom Kaposi co the 0 trong hoc mat, tao ra benh canh
lam sang cua mot u ac tinh hoc mdt co nguon goc mach
mau. NhCfng ton hai khu tru khac a mat co dtfoc u - .. .•
nhtf d da mi. 0 ket mac nhan cau va o tiii It* N ‘r. . : . •
cac ton hai a mdt se phoi hop voi nhtfng kht. •r . •
thtfong khac a mat.

379. KAPOSI

(Len ban dang thuy daui

Nam 1887, Kaposi co nghien ctfu mot kieu len ban ' ria
giong nhtf trong thuy dau ma doi khi lam cho nai'.j *:.•
b e n h e c z e m a a tre in d i s i n h , Co ve n h t f d a y la rod! ib.nh
mun mu (pustulos«.'> doi khi ac tinh, co the ri.^
virus. ecpet hoac chung dau <vaccine'.

Ban m oc dtfdi dang nhtfng ban do - mun uy

i Erythema to - vesiculeuxi cd the gop them vao vds
tdn thtfdng eczema da co trtfoc. Ban moc a mat. than

216
va cac bo phan of gan 3o ciia chi. Sau it ngay, mun ntfdc
tien den loet co vay rat ngtfa.
Co anh htfdng den toan the trang, gay sot va co the
gay tiif vong a tre rat it tuoi. a ngudi ldn, benh nhe hon.
Nhufng bieu hien cf m3t da dtfdc mo ta nhu moc ban cf
mi va viem k et mac co mii. Nhung dang so nhat la ton
thucfng d giac mac. Viem giac mac giong nhu dang duoi
gai (aspect dendritique) trong loet da herpes, va neu lay
chat cdo xtfdc dem di chung thi se gay d tho benh viem
gidc mac do herpes.
NgUdi ta cung c6 n6i tdi cdc loet gidc mac va nhUng
ton thudng lam cham cf gidc mac. Tuy vay han htiu mdi
xay ra thung gidc mac.
Cdc phan Ung mong m it - the mi c6 v& Id thU phdt do
viem gidc mac, mdc ddu ngtfdi ta da cd nghl tdi mot stf
thu benh trtfc ti£p do qud trinh nhiim khuan.

380. KARTAGENER (H0i chUng)

Ndm 1933, Kartagener tdp hdp mpt hoi chUng vdi ddc
diem cd bo 3 trieu chting:

- Gian phe quan cd viem phe quan man tinh;

- Viem xoang vd viem hang - xUdng sdng (ethmoido

antrite) vdi polyp mui;

- Dao ngtfdc phu tang (situs inversus des visc&res).

Hoi chting ndy cd ve xa la doi vdi nhan khoa. Tuy nhien,
chung toi cung muon neu len rdng ndm 1963, Sega cd bdo
cdo nhting benh dn gia dinh ve hoi chting ndy cd pho'i hop
vdi vi§m vong mac sdc to'.

217
 381. KAYSER - FLEISCHER Vong
D u a c K a y s e r (1902) roi F l e i s c h e r (1903) rao ta . ~u tham
n h a p g i a c m a c ky la n a y t h a y t r o n g b e n h W i l s o n va mo t
th e l oa i l a m s a n g cua no la b e n h gia xa ciing W e s t phai -
S t r u m p e l l ( x e m nhufng t e n nay).

Vong giac mac Kayser - Fleischer duac cau tao bang

nhufng chat lang dong sdc to’ dong - it khi thay duac bdng
mdt thudng - dudi dang mot vong mau xanh ve ngay canh
ria giac mac. Thudng phai soi sinh hien vi mdi kham duac
thay sac to’ d mat sau giac mac ve phia cac ldp mang
Descemet. Vong cd chieu rong thay ddi va khong deu dan
(1 hoac 2 mm), va luon luon cd mau xanh ve hoac nau •
ve. Sac td khong dong deu va doi khi vong khong hoan
chinh. Vong quanh giac mac Kayser - Fleischer l u o n l uon
d ca hai ben, va cd le hay thay trong benh gi a x :
Westphal - Strumpell han la trong benh Wilson D u o i tat
dung cua di§u tri, dac b iet la vdi cac c h a t chela:
(chelateurs), sdc to sau giac mac cd the mat di. Cuoi cung.
can luu y ring vdng giac mac cd the phoi hap vdi mot
nguon goc gay ra no. Vdng Kayser - Fleischer cdn la mot
trieu chUng cua n h iim dong ngoai sinh sau chan thuang

382. KEARNS (Hoi chiing)

Hoi chUng Kearns (1958) ndm trong khuon kho phoi

hofp thoai hoa s&c to vdng mac vdi nhUng di dang khac
trong ca the, gdm cd:

• Viem vdng mac s i c td' khong cd dang lam sing dac

biet rieng. Thtfc ra d£'y Id mdt loan du9ng s&c 16 khu tru

218
a ctfc sau quanh gai thi ve phia vung hoang diem (dien
vong mac binh thuang hoac giam);
- L iet van nhan ngoai lai co sup mi, lac phan ky va
liet it hoac nhieu cac dong tac van nhan.

- B en h cor tim vdi bloc nhT - that, co the ttf vong

Cho den nay khong thay mot yeu to' hien ttfang di truyen
nao. Hoi chtfng thay xay ra a ngtfdi tre ca hai giai nam
va ntf.

383. KENNEDY

(Xem FOSTER - KENNEDY)

384. KILO H - N E V IN (Hoi chUng)

Kiloh va Nevin (1951) da nghien cUu hoi chUng duac

goi Id liet van nhan do nhan, ngoai lai, tuan tien (ophtal-
moplegie nuleaire externe progressive) vd cho ring c6 the
day la mot benh cua ca or mdt (myopathie oculaire), mot
stf loan dtfdng thtfc stf va tudn tien cua cdc ca van nhan,
chU khong phai Id thodi hod cdc nhdn vdn nhan d than
nao. Sup mi tuan ttf d ca 2 mdt vd stf bai nhtfac van nhan
co the coi nhu la mot stf loan dtfdng tuan ttf cua ca, c6 ca
suy yeu cdc ca d mdt, d co vd d vai. Cdc tieu chudn v l mo
benh hoc ca vd cdc dff kien v i diSn ca ky hdu thuin cho
quan diem ndy.

385. K IM M E L S T IE L - W IL S O N (Hoi chUng)

Ndm 1936, Kimmelstiel vd Wilson nhan manh ve cdc

ton hai cua than trong benh ddi thdo or cdc giai doan sau
nhu thodi hod kinh tieu diu - ong than, ddn den xa cting

219
than thuc stf vdi tang huyet ap. nitd huyet, protein
nieu.v.v... Luon luon gay benh d vong mac v& ddc bi$t
nang vi cd nhidu vi phinh mach va cac phan ting dich ri
va tang sinh. Cac xet nghiem ve mo benh hoc vk mo hoa
hoc xac nhan moi quan he gan gui gitia nhting ton thtfong
cua nhu mo than vdi ton thtfang vong mac.

386. KINNIER - W ILSON (Dfi'u hi$u)

Trong qua trinh tien trien cua u d nao thiit 3 (u tuyen

tung) cd the thay nhtfng bien doi d dong tti nhtf dong tti
lech len tren va vao trong (d&'u hi$u Kinnier - Wilson).

387. K IR K - PATRIK (Viem giac mac)

Viem giac mac vet cham Kirk - Patrik la mot the viem
giac mac lam cham d mot mat, chac la do nguon gdc virus,
ton thtfcrng d phan sau cua bieu mo, va cd the lan tdi mang
Bowman va cac ldp nong cua chat dem. Benh canh la
nhtfng dam md due trdng, tron, rai rac, va nho len. cd khi
de lai seo d trung tam giac mac, gay khd khan cho thj luc

388. KITAH AR A (Benh)

Ten goi doi khi dat cho hoi chtfng viem hie - vong mac
thanh dich trung tam (Kitahara, 1936, va Masudat

389. KLEIN (hoi chtfng)

Klein (1947) cd neu mot benh an lam sang gom mot

t§p hop nhieu di dang cd ca hep khe mi, long may ram;
khong cd gdc mui - trim, mong milt diu mdu, di£c vk loan
sin c a - xtfcmg - khdp.

22 0
 D o n h u n g c o n g t r in h d a c o n g b o c u a K le in ( 1 9 4 7 - 1 9 5 0 )
in& ta p h a i k e d e n t e n o n g b e n c a n h t e n W a a r d e n b u r g
( x e m h o i c h U n g W a a r d e n b u r g - K le in ).

390. K L IN E F E L T E R ( H o i c h U n g )

H o i c h U n g K lin e f lt e r ( 1 9 4 2 ) t h u o c v a o h o i c h U n g g i a m
n a n g t u y e n s in h d u e v d i t i n h h o a n b e ; s in h t h ie t c h o t h a y
t i n h t r a n g x o c U n g - k i n h h o a (s c le r o - h y a lin is a t io n ) a cac
d n g s i n h tin h . K h o n g c o t in h t r u n g v a b a i tie t t h a i q u a
g o n a d o t r o p h i n ( F S H ) . H o i c h t in g t h u d n g c o n c o c a c h U n g
v u to d d a n o n g ( g y n e c o m a s t i e ) , k h o n g co r a u c d m v a c o
mot ccr t h e to ldn. Thudng cd roi loan tdm than. N g u d i ta
cd thay sir phoi hop vdi benh ddi thdo dudng, b$nh Langdon
Down vd b£nh bach diu. Ba xdc minh duoc ring hoi chting
nay la do mot cariotyp di the nhiim sdc XXY, kinh dien
thi cariotyp co 47 the nhiim sic, 44A + XXY.
Bi tat bam sinh ve s ic giac (mu mdu do) gap vdi tan
so 2,8%. Can nhd rin g khong nhting tat mu mdu do md
tuoi me qud cao cung tao thuan loi cho sU khong tdch doan
cdc th i nhiim sic X & ngtfdi me.

391. KLIPPEL - FEIL (Hoi chting)

Bo Klippel vd Feil (1912) mo t i, h<?i chting ndy c6 dac

diem Id dinh cdc dot xtfcmg*co (ngtfdi khong cd cd, vd cd it
di dong). Bong thdi so ltfong dot xtfong cung giam va dinh
vao nhau. Bo dang cua benh nhan rat goi y: dau nga ra phia
trtfdc, vd rut xuong gitia 2 vai, c6 ca veo lech cd. Nhting di
dang khdc cung dtfdc neu len nhtf ntit dot sdng cd (spina -
bifida), gii veo ltfng, toe moc xuong thap, xtfong stfdn co (cotes
cervicales) vd ntit vdm mieng (fissure palatine).

221
 Cac bieu hien d mat co duoc mo ta nhtf liet day thdn
kinh van nhan chung, hpi chufng co rut cac co van nhdn
(Turk - Stilling va Duane) va lech xtfdng so - mdt. Lift
giao cam co cung dupe neu len.
Hoi churng nay na na giong chufng roi loan tao dudng
dan (status dysraphicus). Nam 1960, Wildervanck di nghj
xac lap hoi chting mdt - co - dm thanh (syndrome oculo -
cervico - scoustique) dtfa vdo b§ 3 tri£u chting nhtf sau:
- Hoi chting Klippel - Feil;
- Diec me dao vd cdm - dilc;
- H6 i chting Tflrk - Stilling - Duane.
Thtfc te la tac gia nay da ghi dtfpc 20 trtfdng hop phan
ldn la d trong c£c Vien ve diec va cam. Trir 1 trtfdng hdp.
con tat ca benh nhan deu thuoc nti gidi. Hoi chtfng n£v cd
the co tinh gia dinh.

392. KLIPPEL - TRENAUNAY (Hoi chiing i

Dtfdc Klippel va Trenaunay nghien ciiu nam 1900, hoi
chting nay doi khi con mang ten la Parkes va Weber (1918)
Ngtfdi ta con goi la ndi tinh mach phi dai (noevus
variqueux hypertrophique) hay phi dai u mach gian phinh
(hypertrophie hemangiectasique). Trieu chting gom c6 stf
phoi hdp cac dau hieu sau day, thtfdng or mot chi:
- U mach nong, phdng hoac co hot cdm (verruqueux).
doi khi co noevus flammeus dr so hoac mat.
- Gian tinh mach, so ltfdng va mtic nang nhe khac nhau

- Phi dai theo chieu doc vd ca be ngang cua chi. den

tan xtfcfng va phdn mem. Thdm dd mach mdu cho thay ro

222
c a c 16 ro d o n g - t in h m a c h t h u o n g la ca n h o , v a c a c c h t f d n g
n g a i cf t i n h m a c h n h tf k e m p h a t t r ie n v a h e p . H a n htfu
m d i c o n h t fn g tr tfa n g h a p g ia d in h

N a m 1 9 6 1 . P i e t r u s c h k a c o n g h i e n ctfu s o s a n h giufa h o i
c h u fn g S t u r g e - W e b e r - K r a b b e v a i h o i c h u fn g K lip p e l -
T r e n a u n a y : T r e n 1 3 t r u d n g h a p , ta c g ia c h U n g m i n h r a n g
k h o n g cd r a n h g id i t u y e t doi g i U a 2 h o i c h U n g n a y . v a ta
c d t h e g a p n h t fn g t h e b e n h t r u n g g ia n .

393. K LO EP FER

(Xem ROSENTHAL - KLOEPFER)

394. KLUMPKE
(Xem DEJERINE - KLUMPKE)

395. KNIES (Dau hieu)

Trieu chtfng nay Id stf gian 2 ddng ttf khong ddng deu
nhau trong benh ctfdng tuyen giap Graves - Basedow.

396. KOBY (Loan dtfdng mo ltfdi)

Thoai hoa mo ltfdi nong giac mac (Koby, 1927) Id mot
viem giac mac loan dtfdng nong rdt hiem thay, cd thoai
hod bieu md vd bien doi cua mdng Bowman. Benh tien
trien cham, ttf ttf, khong cd cac hien ttfang dau nhtic; tuy
nhien cd lam giam thi ltfc. Soi sinh hien vi cho thay cd
nhtfng chd nhtf ntfdc dong (buee) or bieu md gdn lien vdi
nhtfng chd md due nhe dtfdi bieu md, cung nhtf nhtfng dtfdng
ntft ran ndi len dr mang Bowman dtfdi dang nhtfng khe van
di ttf trong ra. Sau cung, ngtfdi ta cd the thay ndi len mot
dtfdng bieu mo md Collier md ta nhtf mpt dtfdng gia Hudson

223
- Stahli; tac gia da diem lai sdch bdo ve benh nay vd cho
do nhu la mot loan duSng cua m&ng ngdn trtfdc cua gidc
mac; ong cho rSng c6 the c6 2 th i benh khac nhau, mQt
the gia dinh va mot the lao suy.

397. K O B Y (Due the thuy tinh hinh hoa)

Duoc Koby rao td ndm 1923, loai due thi thuy tinh ndy
co dac diem la due bdm sinh d cd 2 mdt, vdi nhtfng chfi
md due, tron, hinh vdnh khuySn, hinh cdi tin (ombelli-
forme) mau xanh phdt hodc vdng nhat.
Md due xuat hign ngay ttf ltfc mdi sinh vd nhilu d cdc
dudng noi Y cua thi thuy tinh. Loai due thi thuy tinh ndy
on dinh va khong lam giam thi ltfc.

398. KOCHER (Dau hieu)

Dau hieu nay bieu lo bdng sU gia tang co nit m i khi

benh nhan cd gdng nhin tap trung, xay ra trong benh
cudng tuyen gidp.
Kestenbaum cd neu len mot dau hieu Kocher khac, the
hien bdng hien tuong khi benh nhan nhin len thi mi len
nhanh hcfn nhan cau. Thtfc ra thi it khi thay dau hieu nay

399. KOEPPE
(Xem BUSACCA)

400. KORSAKOFF
(Xem WERNICKE)

401. KORNZWEIG
(Xem BASSEN - KORNZWEIG)

224
 402. K O Y A N A G H I

( X e m V O G T - K O Y A N A G H I )

403. K R A B B E (Benh)

Con goi la benh xa cufng nao tan man a tre em, benh
nay (Krabbe, 1916) la sir loan dirdng chat trang nao tuan
tien a tre em (leucodystrophie cerebrale progressive infan­
tile) c6 ti'nh gia dinh, di truyen l£p autosom.
Benh khdi phdt trong n d m dau va bieu hien b a n g s U
dd dan (torpeur), tinh tr a n g nhiTofc trUdng (hypotonie),
thinh thoang cd nhufng ccfn co giat va nhufng trieu chUng
cufng der ngoai thdp (rigidite extra - pyramidale).
Tri^u chufng d mdt chu yeu la teo thi thdn kinh, rung
giat nhan cau, dong tdc bat thudng cua mdt.
B§nh nhan chet nhanh chdng do mdt nao dan dan
(d£c£rdbration progressive).

404. KRABBE
(Xem STURGE - WEBER - KRABBE)

405. KRAUPA (Loan dudng bieu mo)

Loan dudng bieu md gidc mac d ngudi tr£ Kraupa (1954)
khdi phdt sau tuoi trudng thanh mot it, dudi dang nhieu
mun nUdc, nho, nong, cd gay it nhieu ton hai cho nhu mo
giac mac ngay d dd. Vi the, soi sinh hien vi thay‘ ldp noi
mo gidc mac cd ve md.
Tuy tdn hai d nong nhung benh cd the tuefng tu vdi cdc
loan dudng nhu md bdm sinh vd truyen theo kieu lep. Duke
Elder nghi ngd v i thuc the ddc tinh benh hoc cua nd.

225
 406. K R A U SE (Hoi chtfng)

Duoc Arlington Krause (1946) nghien ctfu hodn hao, h$i

chiing loan san nao - mSt nay l i mot tap hop nhieu di
dang so sinh va benh nhan c6 thd ch£t nhanh.

Tdn hai of mdt, ngodi mpt nhan cau b£, chu ydu Id loan
san dich kinh - vong mac co mo ting sinh sau thi thuy tinh
va luu tdn he mach hyaloit, xuat huyet n0i nhan. Nhieu di
dang phoi thai d goc mong - gidc mac dtfoc noi tdi. Do d6
mat mu va co the ldi mdt trau, due the thuy t.inh

Ddng thdi, di theo c6n cd tdn hai d h§ thdn kinh trung

tfong nhir tran dich nao, ddu b6, thodt vi nao vk di dang
A r n o l d - Chiari.

Sau cung la di dang of khdp cdc phu tang va xtfcmg

Benh sinh cua hoi chufng rat it co tinh gia dinh nky
dtfoc giai thich bdng benh cua phoi, trong nhurng tuan d^u
thai nghen.

407. KRUKENBERG (Thoi)

Thoi Krukenberg (1899), hoan todn c6 the phdt hien

dtfac bdng sinh hien vi, bieu hien stf thdm nhap sdc td
mdng bd dao vao nhufng ldp sau cua gidc mac; n6 d trong
ldp noi mo - Descemet. Sdc td thtfcfng phan tdn dtfdi dang
mot con thoi dting, hoi phinh d chd gitfa gidc mac.

Tuy nhien, sdc to' cd the cd stf sdp xep khac nhau. theo
hinh tam giac, ddy d ria, va it sdc to'd gitfa gidc mac hodc
doi khi bo tri theo chieu ngang. Mdc ddu ngtfdi ta cd ban
cai ve nguon gdc bdm sinh cua nd, thoi Krukenberg xuat
hien trong tat cd nhtfng benh cua bdn phdn trtfdc cd gay

226
ra su mat sac to va phan tan s3c to vao thuy dich, nhtf benh
viem m ong mat, glocom sac to co teo cac ldp bieu mo sau
cua mong va tham den vao goc mong - giac mac. Can soi
xuyen mong mat. Thoi Krukenberg hay d ca hai mat.

408. KUFS (Chtfng ngu - mu)

Chtfng ngu - mu (idiotie amaurotique) do Kufs mo ta
(1926 - 1931) ttfong tfng vdi m ot the lam sang muon xay
ra d ngtfcfi ldn, vao khoang 25 - 30 tuoi. Cac bieu hien d
mat ft khi dan den mil, chu yeu la thoai hoa hoang diem
kieu s3c to' va teo; tuy nhien, ngtfdi ta thay co cham kinh
dien "do anh dao" hoang diem.

Ton thtfcrng he than kinh trung tfang gay ra nhtfng trieu

chtfng huy hoai tam than, nhtfng con d<?ng kinh va nhtfng
trieu chtfng ngoai thap nhtf run ray va ctfng co.

409. KUNNT
(Xem COPPEZ VA DANIS)

410. KURZ (HQi chtfng)

HQi chtfng mu b im sinh Kurz (1951) c6 dSc diem la lom
m it rS't dtf, mat phan xa dong ttf nhtfng d£y m it binh
thtfdng, rung giat kieu qua lie dong h6 hoac nhtfng dong
tac giat (saccad£) va thieu phoi hop cua nhan diu. Cuoi
cung la m it bi vien thi nang (7 den 8 diop).

Zolog cho rin g hoang diem nay cd the coi nhtf mQt thoai
hoa tapeto - vong mac mdi dau chtfa boc lo lam sang, ve
sau bieu hien mu<?n hem.

227
 411. KUSSMAUL (B^nh)
Duac Kussmaul (1866) neu len, ngay nay ngudi ta da thifa
nhan benh viem quanh dong mach co cuc (p£riart£rite
noueuse) la mot benh tao keo. Benh gay ton thucmg cho cdc
thanh dong mach cd trung binh, co ton thuong d nhieu cd
quan hoac phu tang nen lam skng da dang v i kho chin do6n.
Benh danh chu yeu v&o ngudi tr£ d ca nam v i nil. Tiftn
liTOng den toi.

Ngoai nhufng bieu hi^n ky la d da (ndi cuc), b$nh g6m

chu yeu nhufng trieu chiing ve d§ng mach, trigu cluing viem
nhieu day than kinh, cd nhiet dp, v i nhurng diu higu vi
sinh hoc co vi§m khong ddc hifu (t6c dd l£ng mdu tang
cao). Sinh thiet la mot trong nhOfng phtfong phdp tot nhat
de xac dinh benh.

Dau hieu d mdt khd linh tinh: len ban hoSc not dudi
da mi, viem mang Tenon, viem cung mac va viem ket -
giac mac, it khi liet van nhan.

Hay gap va dang chu y hon l i nhurng bieu hien d day

mdt do huyet ip cao cd ca viem than, ho&c do nhiirng ton
thuong dac hieu cua nhurng benh tao keo. Vi vay, ngudi ta
cd mo ta nhtfng benh canh viem vong mac co huyet ip cao
v i vi phinh dong mach, nhtfng huyet khoi dong mach vong
mac v i doi khi co nhtfng o viem hdc mac va dich ri dudi
vong mac. Trang thai benh hai d vong mac la net kha dac
biet cua benh; day l i nhtfng not trdng nhat, min, d nong
v i co nhieu d ctfc sau phia gai thi v i cic mach mau.

228
 L

412. LAFFER - ASCHER (Hoi chtfng)

DtfOc Laffer (1909) nghien cufu, va sau do la Ascher (1919

- 1921), hoi chufng di dang nay rat hiem thay (khoang 30
trtfdng hop trong y van, cf ngudi tre).

Trieu chting gom bo 3 sau day :

- Xe mi nhieu hoSc it d 2 mdt, doi khi c6 cd sa md hoc

m^t vd sa tuyen 1$ (tui xe mi) ;

- Phu ne moi, thtfdng Id moi tren, gdy ra v i nhtf moi 2

vdnh (moi k£p) ;

- Btfdu co, thtfdng khong cd trieu chting vd khong tao

ra ddu hieu cua ctfdng tuyen gidp.

413. LAFORA
(Xem UNVERRICHT - LAFORA)

414. LANDING (Benh)

Benh Landing hay benh loan dtfdng md thdn kinh - phu
tang cd tinh gia dinh (lipidose neuro - visc^rale familiale)
Id mot benh ti gangliosit GM1 (ceramide t^trahexoside)
nhap vdo vdi cdc benh ngu - mu. Benh di truyen l£p
autosom, hinh nhtf ttfong ting vdi mot roi loan enzym. Benh
khdi phdt trong nhting thang dau bdng nhting trieu chting
cham phdt trien tam thdn - van d<?ng vd fin uong khd

229
k h a n V e s a u , xuat hien nhting dau hieu thin kinh thu$c
b o t h a p v a ngoai thap.
Kham toan than thay c6 gan to, lach to vk di dang
xuong chu yeu la xUOng dot song.

Ve mat, co stf tham nhap dac biet d ctfc sau, dutfi dang
cham "do anh dao" hoang diem kinh diln.

Co them teo thi than kinh lam cho m it mu.

Hinh nhu benh nay la trung gian gitfa nh6m b$nh uf

gangliosit (ngu - mu kinh dien, kieu Tay - Sachs) vk bgnh
Hurler.

415. L A N D R Y (Hoi chtfng)

Hoi chtfng liet len kieu Landry thtfOng thay nhtf la mpt
bien chtfng cua nhtfng the cao (formes hautes) cua benh
Heine - Medin va Guillain - Barre (xem nhtfng ten nay)
va mot vai benh viem tuy cap va viem da day than kinh

Ton thucmg lan len tren, gay liet ttf chi do ton thuong
d cic chi tren, d than nao (hanh nao, cau nao va cuong
nao). Khong cap ctfu ngay thi cic roi loan ho hap vk tim
se d in den ngat thd va truy tim - mach. Trong hoi chiirng
nay, trieu chtfng ve m it d hang thtf hai, di nhien la gay
ton thtfong cho ca 3 day thin kinh van nhan, day than
kinh mat lam hd mi. Soi d iy m it co the thay phu gai thi

416. LANGDON DOWN (Hpi chtfng)

Langdon Down (1866) thtfdng dtfoc mo ta dtfdi cii ten

"Mongolisme" va n giy nay la chtfng ba the nhiim sic 21
(trisomie 21) (Lejeune, 1959).

23 0
 Benh Mongolisme co dac diem la ket hop mot tri don tam
than, mot bo mat dac hieu voi mot tap hop nhieu di dang.

Benh xay ra d tre em ca 2 gidi va ttfang doi hay gap

(1/2000). Tuoi me ttfang doi cao la yeu to thuan lai gay benh.

- Ve lam sdng, cac dau vet d dau gai y ngay chan doan :
mat phen phet, tron nhtf m at trang. Khe mi rat di thtfdng,
cd nep quat (epicanthus) d gdc. Khe mi hep, xech xuong
dtfdi va vao trong (xech M ongoloit) ; mui ng&n, bet, 16 mui
thi lai to. So rong, d lu n g l n , tran do, go ma nho cao. Moi
va m ieng cd nhufng dj dang dac b iet : ltfdi ntft ne, cd khi
to day, moi kho, ntit ran. Rang nho, khong deu, tai nho.
Toan b§ tao ra mot vd mat nhu he (aspect clownesque).

- Tri ddn tdm thdn lam cho ngu dan va yeu duo'i thtfc
stf. Tinh net thtfdng hay thay doi.

- Thuang cd nhdng di dang khdc ve the chit. Da kho r&p,

co k6m trtfong ltfc, co btf, chi ngln, bung c&ng ra, day ching
nhao. Ngtfdi ta mo ta dtfOi cai ten "dtfdng Crookshanck”, mQt
nep glp duy nhlt chay ngang qua 16ng ban tay. C6 giam
nang tuyen sinh due va nhtfng di dang ng6n tay, dinh ng6n,
stft moi \k cung khong it di dang tim.

- B ie u h i£ n d m i t r l t hay gap, trong d6 c6 mfit so

h ln g dinh:

+ Khe mi rdt dac trUng, chung toi khong n6i lai ntfa
(xem d phin tren).

+ Gidc mac hinh chop, kha hay thay, nhlt la trong

nhtfng the benh nhe; giac mac chdp cap tinh c6 the xay
ra nhtf mQt bi§'n chtfng.

231
 + Cham Brushfield. a m ong m i t (xem ten n£y) c6 v£ li
dac trtfng cua benh ba n h iim sdc the 21.
+ Due the thuy tinh bam sinh rat hay cd; nhtfng chfi
ma due hinh vong cung mau trdng nhat cd thi din din
due the thuy tinh vung, due d khdp phfii thi thuy tinh
due the thuy tinh bam sinh nhieu dang khdc nhan nhu due
toan bo, due cue bo, due hinh phao ctfu, due nhtf hoa bdng
tuyet, due cham ,v.v...

+ Ban phdn sau, trdi ngtfcfc vdi ctfc trtfdc cua mit, khdng
co nhtfng di dang gi ldn ddng kl.

Nhtfng di tat ve khuat trilt (viin thj), lie mit, rung

giat nhan cau d ngtfdi bi Mongolisme, theo Wef'Ilez. thi
khong phai la nhufng dau hieu rieng bi£t cua hQi chiing
Langdon Down.

417. LANGE (Nep gdp)

Nep gap d chu bifin vong mac bilu hien su d&y sinh ly
cua vong mac tre so sinh d vung ora serrata. Trang thai
nay se mat din.

418. LANGE (DE) (Hoi chtfng)

H^i chtfng do De Lange mo ta nam 1933, g6m mQt tap

hop nhieu di dang vdi dac diem la lun vd cdc di dang cua
cot song.
Di dang d mat tao ra mot di?n mao qu£i di: mui ngdn
vd be ra, long mdy ram rit, dau nho, tai cdm khong dung
eh6. Cdn chu y khodng cdch 2 mdt qud xa va khe mi xech
ngtfoc (antimongololde: chech xuong vd ra ngoai). Cd the
cd ca tam thdn tri don, nhieu ngdn vd dinh ngdn.

232
 419. L A R SSO N

(Xem SJOGREN - LARSSON)

420. L A U R E N C E - M O O N - B AR D ET - BIEDL

Hoi chtfng duoc Laurence va Moon mo ta (1866), sau do

dtfoc Bardet (1920) va Biedl (1922) nghien curu lai toan bo.
Phoi h o p m ot viem von g m ac sdc to vdi nhufng bieu hien
khac, trong do co nhtfng yeu to' bat nguon tir nao trung
gian - tuyen yen.

Hoi chtfng do m ot gen benh co kha n5ng gay nhieu roi

loan phtfc tap. D ong h op ttf lep autosom tao ra cac trieu
churng hoan chinh, trong khi dd thi bo me di hop til, tham
chi cung huyet thong, chi ga y hau qua cuc bo nhtf dinh
ng6n chdn g han.

Benh thadng xdy ra d nam gidi, vao ltfa tuoi d$y thi va
gom cac tri§u chufng nhif sau:

1. Viem v o n g mac sSc to. ThifOng c6 trang thai kinh

dien: teo gai, mach mau day mdt thu hep, sdc to' phan tan
theo dang tao c6't bao; di§n vong mac k^ tdt nga'm va cd
quang ga. Doi khi thoai hoa vong mac bieu hi§n dtfdi dang
viem v5ng mac cha'm bach bien (r6tinite ponctude albes-
cente). Trong nhtfng trtfdng hop khac, sdc t6' vong mac
phan tan m§t cach khdng d iln hinh.

2. B e o phi la trifu chtfng chu yeu, goi len b£nh trang

cua hQi chtfng Cushing.

3. Giam n&ng tuyen sinh due cung la tri^u chtfng

noi bat, gay trang thai nhtf ngtfdi bi hoan: teo tinh hoan
va vu to ra (nam gidi).

233
 4. D ai thao n h at hay thay.

5. T am th an tri d on la yeu to dac biet cua hoi chting,

d cac mile do khac nhau.

6. N h ieu n gon va dinh n g o n la mot trieu chting quan

trong, ke ca ngon chan cung bi.

Nhieu di dang phoi hop khac dirge neu len, trong do co

hoi chiing Biemond (xem ten nay) va hoi chdng Gunther
(1931) vdi loan xifdng so than kinh - noi tiet, dau nhon,
viem vong mac sdc to, roi loan tam thdn va hoi chting phi
sinh due.

4 21. L A U R E N T (C O L E T T E ) (Hoi chting)

Khuyet doan cuc bo canh dai cua mot the nhiem sdc
thuoc nhom D (13 - 15) da dirge biet lap trong n&m 1966
(ba Colette Laurent). Cho den luc dd, sir sai lac the nhi§m
sdc theo kieu mdi ay dirge thay d 7 benh nhan.

Tap hgp da di dang gan lien vdi mot nao benh gom co:
dau be, mat tron vdi khoang cach 2 mdt qua xa, birdu co
tran. Khe mi xech kieu Mongoloide (xech xuong di/di, vao
trong) va nhan cdu be.

Soi day mdt thay cd sir di thirdng cua viec ddng khe
phoi hdc mac vdi ben phia trai mot 16 khuyet mong mdt
va hdc mac den tan gai thi, phoi hop vdi due the thuy
tinh cham tron d ctfc. Cl ben phai, phan trirdc cua khe hdc
mac van ddng binh thirdng; lo khuyet pham vao gai va hdc
mac nhimg mong mdt van dirge ton trong. Khong cd due
the thuy tinh .

234
 Cd phoi h gp nhieu di dang nhu ham rang thut vao
(rdtrognathisme), cd ngdn, xtfang stfdn thtf nhat ben trai
che doi, nhtfgc san u ngoi (ischion) ca hai ben. Cac dau
chi be m ot cach b at thudng: ngdn tay cai hau nhu khong
cd, ngdn gitfa va ngdn thtf 4 d ttf the gap lai trong khi
ngdn tro va ngdn ut thi lai dudi ra; dtfa be cd nhtfng ngdn
tay venh len nhu sting thu (l’enfant "fait les cornes").

Ngoai ra, chup X quang cho thay dinh hai dot xuong
ban tay cuoi; di d a n g nay thay trong hau het cac trudng
hgp. Stf khuyet doan xay ra d khoang 1/3 canh dai cua
m ot the nh iem sac thuoc nhom D. Phtfcfng phap phdng xa
ttf chup (autoradiographie) cho thay cd le dd la the n h iim
sdc to' 13.

422. LAWFORD
(X em S T U R G E - W E BER - KRABBE)

4 2 3 . LEBER (Benh)

B en h v ie m thi th a n kinh di truyen va gia dinh rat dtfgc

quen biet vdi cai te n la b enh Leber (1871) d&nh chu yeu
vao nam gidi tti sau tuoi trtfdng thanh (20 den 25 tuoi).

Trieu chting la cua m o t viem thi t h i n kinh hau nhan

c i u d ca 2 m dt m a doi khi thu benh khd nhanh. M o t vai
tac gia cd neu le n ra n g mdi d l u cd phu gai va sung huyet
d m o t mtic nao dd. Bd gitia bi nhieu nhat, gay ra giam thi
luc dan dan ca xa va gan, lam thi trtfdng thay cd am diem
trung tam hoac trung tam diem mu.

Benh tien trie n tti tti trong nhieu nam cd the la m giam
thi ltfc n h ilu m ac dau k h o n g gay mu; thi trtfdng chu bien

235
thtfcfng nguyen ven. Soi d a y m a t thay teo thi than kinh
thtfcfng d phia thai dtfcfng gai thi. Tuy nhien trong mot so
trtfcfng h op , b e n h k h oi dtfdc.

Benh Leber di truyen theo kieu ldp vd ve nguygn tic

gan lien vdi gidi tinh, di san benh do phu nff truyln lai
va nam gidi bi benh. Tuy nhien cung cd trtfdng hop di
truyen troi autosom neu bo' truyen lai cho con.

Benh Leber chi nhdm vao thi th in kinh, rat hiem thdy
cac phoi hop than kinh khdc nhtf dong kinh, rtfi loan tfim
than va trieu chtfng bd thdp.

4 2 4 . LEBER (Benh u mach)

Benh u mach hat ke vong mac Leber (1912) gai len

hinh anh cua viem vong mac Coats; thtfc ra thi 2 benh
nay co the phoi hop vdi nhau dtfgc. Benh ttfong tfng vdi
nhieu phinh mach hat ke treo vao cac mach mau vong mac
giong nhtf nhufng trai cay tren canh. Day la nhtfng not
tron, doi khi dai, hoac hinh bau due elip, tao ra ch6 phinh
tren dtfdng di cua mach mau ma thtfdng la mot dong mach
nho (Istre, 1946). Mau dd choi, doi khi slm .

Dich ri vong mac Id ddu hieu thtf 2 cua ddy mdt, chung
giong nhtf nhtfng vdnh hoa la nhieu v&ng vay quanh vung
hoang diem hoac quanh cdc o phinh mach ke. Tien trien
cham, man tinh. Cac tao tac u mach, trong mot so trtfdng
hgp, co the gay xuat huyet dich kinh, doi hoi phai lam
quang dong mot hoac nhieu ldn de dtf phong.

Sau cung, cung nhtf benh viem vdng mac Coats, can chu
y Id benh xdy ra d mot mdt thoi.

236
 425. L E B E R (Vie m vong mac)

Dtfdc Leber mo ta, benh viem vong mac phu ne gia

viem than (1909 - 1916) la mot viem vong mac phu ne
trung tam thtfc thu, doi khi cf gai, nhtfng thtfdng la vung
hoang diem, dtfdi da n g nhtfng dich ri sap xep theo hinh
sao (viem v o n g m a c hinh sao). Benh d 1 mat, va xay ra
ngoai benh cao huyet ap co trieu chtfng than.
Can nguyen cua trang thai thudn tuy trieu chtfng cua
phu ne dich ri d o t ngot or vong mac nay con kha bi an.
Tuy nhien, trong nhieu trtfcfng hdp, ngtfdi ta co the nghl
tdi nhtfng benh n h ie m khuan toan than (benh nhiem khuan
thong thtfdng, cum), nhCfng benh n h i i m khuan khu tru
(rang, xoang). T ro n g m ot so trtfdng hdp, nghl tdi cdn
nguyen ky sinh trung.

426. L E B E R (Mu bam sinh)

Mu bam sinh Leber (1869 - 1871) la mot thoai hoa

tapeto - vong mac tao ra hoi chufng mu d tre mdi sinh hoac
tre con thd au.
- Tdn thtfdng vong mac rat da dang nhtf sdc td phan
tan d 2 mdt la mot dau hieu dac trtfng, hoac co van nhtf
dd cam thach va teo d ddy mdt, hoac lam tam nhtf muoi
tieu khd ro.
- Hoi chufng mu d tre thd au rat nang: rung giat nhan
cau, mat trdn len, dd d in, phan xa ddng tuf ltfdi hoac mat,
co dau hieu ngon tay - mdt Franceschetti.
- Dien vdng mac ky bi dap tdt hodc giam ro rang cho
phep chan doan sdm the mu ndy cua tre em, nhat la khi
day mdt binh thtfdng hoac it gdi y.

237
 Cd ve nhu thoai hoa vong mac bam sinh Leber chi 1&
su bieu hien rat som cua benh viem vong mac s ic to ma
sau nay duac chUng minh bang sU xuat hi^n cac dau vet
d day mat.
Benh xay ra d ca nam va ntf. Bo me cung huy£t thong
la mot yeu to thuan lai. Benh c6 vd truyln theo ki«?u ldp
autosom.

427. LE FORT (Dudng gay xuong)

Le Fort (1901), trong cong trinh nghi£n curu thuc
nghiem, da xac dinh duoc nhufng dudng yeu diem cua khoi
xuong mat, tir d6 gidi thich duoc nhurng trudng hop gay
xuong lam nhieu manh vun lan den tan vung hoc mdt,
cung xuang go ma - canh quyen (arc zygomato - malaire),
xuang sang, dinh hoc mdt va vung quanh mdt.

428. LEINER
(Xem WILSON - BROCQ)

429. LEJEUNE (Benh)

Duoc Lejeune (1963) va cong su mo ta, sir khuyet doan
(deletion) canh ngdn cua the nhiim sdc 5 hay la benh
"tieng meo keu" (maladie du "cri du chat ") gay ra d tre so
sinh di dang dau be va cham lOn. Tre co tieng keu khong
binh thudng, am sdc va am dieu ren ri giong nhu tieng
keu cua meo con mdi de.

Ve mdt, co tinh trang khoang cach 2 mdt qua xa, nep

quat d gdc mi va khe mi xech ngugc (antimongoloide).

238
 430. LENOBLE VA AUBINEAU (Hoi chiing)

Nhufng tac gia nay mo ta mot the lam sang rung giat
nhan cau ham sinh phoi hop vai rung dau va cac chi vdi
roi loan van mach va tang phan xa gan.

4 31 . LERI (Benh)

Hoi chufng duac Leri (1922) mo ta, gom chufng lun do

loan dirdng xirang bam sinh. Xuang dam dac, day, chac,
nhat la d doan giufa xirang. Do do dan den mot tinh trang
lun khong hai hoa, kem theo m ot bo mat Mongoloide va
doi khi tri don tam than. Tdn hai xirang hinh nhu do cot
hoa sdm. Benh truyen theo kieu troi autosom.

Ve mdt, ngudi ta co mo ta nhting loan dirdng giac mac

giong nhir trong benh da loan dirdng Hurler (gargoi'lisme),
nhan diu b6 va tham chi khong cd nhan cau.

432. LEROY

(Xem REITER)

433. LETTERER - SIWE (Benh)

Benh nay lit mot benh he ludi tdn man (r^eticulose

diffuse) dc tinh, cd ve nhu la mdt the nang them cua u hat
tfa eosin va cua benh Hand - Shiiller - Christian.

Benh danh vao nhting tre em con rat it tuoi va tien

trien nhanh den tti vong. Co dac diem la tang sinh he
thong ludi noi mo xam nhap vao lach va hach bach huyet.

Vi the ta thdy co nhting bieu hien a mdt giong nhu

trong b§nh Hand - Shiiller - Christian va benh u hat ua

239
eosin. Chu yeu la u hoc mdt c6 loi nhan cdu va trieu chtfng
cf cung mac theo kieu viem cung mac.

434. LEVY
(Xem CREY - LEVY)

435. LIBMAN - SACKS (B?nh)

Day la mot trong nhurng the nang nhd't cua bfnh luput
do phu tang (benh L.E). Thuc te ngtfdi ta thay cd nhurng
trieu chting cua benh tao keo nghiem trong ndy nhi/ sd't,
ton hai the trang, td'c d§ ldng mdu tang, tri§u chting khdp
kieu vi£m da khdp, tri^u chting d da, ddc bi§t Id luput dd
d mat c6 th£m ldu, tang sting hda v& teo gSy seo d cdc
binh dien da. Co ca nhting dau hieu ve than co protein ni£u
va huyet nieu vi mo va cac dau hieu ve mau nhu xuat huyet
va bien doi cong thtfc mau. Ton thuong tim trong benh
Libman - Sacks la viem mang trong tim nang co the tien
trien den suy tim. Chan doan benh luput do - viem phu tang
can cuf vao stf hien dien cua te bao Hargraves trong mau va
stf gia tang ty le khang the chdng nhan te bao.
Trieu churng d mdt la trang thai benh hai d vong mac
thuong thay trong mot so' benh tao keo (xem benh Kuss­
maul). Phu gai va xuat huyet vong mac thudng hay di kem
theo cac not trdng nhat d vong mac.

346. LIGNAC - FANCONI (Hoi chdng)

Benh loan duong xystin (cystinose) ma mot so trang thai

lam sang da dtfgc Abderhalden mo ta (1903) la mot benh roi
loan chuyen hda di truyen xay ra d tre em va do roi loan
chuyen hoa cdc acid amin (Lignac vd Fanconi, 1924 - 1931).

240
 Trieu chufng toan than gom co: lun vai cni xtiong vd
loang xiiang (osteoporose); trieu chufng ton hai than luon
luon co, bieu hien bang hu than tieu cau, co albumin nieu,
tru nieu va glucose nieu. Tien lucmg cua benh la trudc sau
cung se tien den suy than.
Thucfng co hoi chdn g ddi thao nhat vdi khat nhieu, dai
nhilu gay ra giam kali huyet va dao thai qua nhieu kali
qua nUdc tieu. Co ca tang acid amin nieu. Tham nhiem
xystin vao gan, lach va he thong bach huyet gay ra gan
to, l&ch to va n h ilu hach.

B£nh qua tai tinh the xystin nay duoc xac nhan bang
sinh thiet mo va tuy cho thay co nhufng tinh the ltidng
chiet (cristaux birefringents) dac trUng.

Bilu hien d mat la cua mot benh tich lipid mo ludi; ngtfOi
ta c6 the thay loan dUSfng gi&c mac do qu& tai vdfi nhOttig tinh
thi xystin nho hinh kim (aiguille), nhilu cf ldp trUdc giac mac.
Nhiifng m&ng khdc cua mdt doi khi bi tham nhap, tao ra nhfing
cham mau vkng d mo mong mdt, cung mac va ket mac. Hoi
chiing loan chuyen Jioa nay truyln theo kieu lep autosom.

437. LINDAU
(Xem HIPPEL (VON) - LINDAU)

438. LINDENOV
(Xem GRAEFE (VON) - LINDENOV)

439. LITTLE (Benh)

Duoc Little mo ta (1862), benh nky ve nguyen tdc khong
di truyln v£k thuoc nhdm nhufng xo hda nao tre em. Doi

241
khi benh duac goi la liet hai ben bam sinh co ctfng. Ngtfdi
ta h a y quy cho no la do bi mQt b(?nh nhiem khuan luc dtfa
tre m di sinh, hoac do mot chan thtfong dO de gay chay
m au nao - m ang nao. Tuy nhien, nhieu trUOng hop gia dinh
da duoc mo ta.

Trieu chtfng la liet ntfa ngtfOi, chi dtfdi gap vd ban chdn
veo vao, nhtfng cung hay co liQt hai chi dtfdi: 2 chi dtfdi
ctfng lai va d ttf the ntfa duoi. Co ctfng thtfdng rat manh.

Them vao hoi chtfng suy sup bd thdp ndy cdn cd nhting
cdn dong kinh, nhtfng roi loan tam thdn khd ro, vd nhdt
Id nhtfng tdn hai ngoai thdp nhtf run r&y vd ctfng dd.

Bieu hien a mdt kha linh tinh, chu yeu la ton hai van
nhan, rung giat nhan cau, lac quy tu hoSc phan ky va liet
stf nhin (paralysie du regard). Mu ho5c gan mu la do teo
thi than kinh, kha hay gap. Ngtfdi ta con neu len nhtfng
dau hieu khac d mdt kieu di dang nhtf nhan cdu be. thoai
hoa vong mac va due the thuy tinh bdm sinh.

440. LOBSTEIN (Benh)

Duoc Van der Hoeve nghien ctfu hoan chinh n&m 1918,
nhung trtfdc do ttf lau, do Lobstein phat hien (1829 - 1833),
benh di truyen va gia dinh nay co dac diem la xtfang de gay.
xay ra d ngtfdi co cung mac xanh, va thtfdng la tai diec

Benh cung duoc mo ta vdi cai ten la benh Van der

Hoeve, benh xtfong gion (osteopsathyrose), benh tao xuong

khong hoan chinh (osteogenesis imperfecta), benh loan san
mang xtfong (dysplasie periostale), benh xtfong thuy tinh
(maladie des os de verre), benh Adair - Dighton. Benh

242
truyen theo kieu troi autosom va gom mot bo 3 trieu chufng
thuc thu nhu sau:

1. Xu’tfng gion la trieu chting chinh, va gay xtfang

thudng xay ra d tre em va ngtfdi tre, den tuoi ldn han thi
cang hiem. Thudng gay d doan gitfa cac xuang dai, gay tu
nhien hoac do chan thuang nhe; thtfdng gay dudi mang
xuang va de dang phuc hoi lai. Ngudi ta ndi la gav co the
xay ra d k h i p cac xuang trong ngudi, nhung thudng hay
gay d chi dudi han. O tre em it tuoi, xuang gion cd the
bieu hien bang di dang cua vom so. K em theo xuang gion
hay cd nhao cac day chang, trat khdp va bong gan. X quang
cho thay xuang rat tham tia xa, ddc biet la d cac dau
xuang.

2. M a u xanh cung mac la thanh phin thtf hai cua bQ

tam chtfng; nd do cdc ldp cung mac bi gian mong de lo sic
td h ie - vong mac. Xanh cd the nhilu mtfc do, ttf mdu xanh
nhat cua m it trd sa sinh d£'n mdu xanh ddm thtfc stf. Mdu
xanh cung mac ndi ro n h lt d vung thd mi vd phin trtfdc
cung mac.

Nhtfng di dang khac d m it dtfac neu len nhtf can thi, -

loan thi, gidc mac chop, due the thuy tinh bim sinh, vdng
due phoi d mat trtfdc, loan sic.

3. D iec la yeu to' xay ra muon nhat va it hing dinh

nhat trong cac trieu chtfng. No chi xay ra d tuoi day thi
hodc tuoi da ldn (ty le ttf 20 den 25%). Thtfdng la diec
theo kieu d in truyen do xop tai.

Tuy theo tuoi luc benh xuat hien ma nhieu the lam
sdng khdc nhau dd dtfac mo ta vdi nhtfng ten khdc nhau

243
nha the scrm scr sinh <Porak - D urante - V rohk) chet nhanh
chong va nguoc lai la the muon (benh Spurw ay).
Hoi chang B legvad - Haxthausen khd gan vdi benh
Lobstein; day la mot sU tao xuong khong hoan chinh c6
tang cao ty le phosphatase alcalin. Benh gia dinh nay cd
the co due the thuy tinh bam sinh ki£u due vung.

441. LOEWI (Dau hi?u)

Dong tuf gian qua mure dudi tdc dung cua thudc nho mdt
cd hoat chat adrenalin. Dd'u hi?u khong h&ng dinh ndy
thien ve tdng nang tuyen gidp (thyreo toxicose) trong b<?nh
Graves - Basedow

442. LORAIN (Nhi tinh)

Nhi tinh do tuyen yen Lorain (1871) (infantilism e hy-

pophysaire) co dac diem la lun mot cach hai hoa vdi giam
nang sinh due ma khong ton hai tam than. Can nguyen
la do ton thuong tuyen yen nhu khoi u, u tuyen (adenom e)
hoac bi chen ep bdi mot u so - hlu. Trieu chOng cua mdt
la do ta can nguyen cua sU roi loan sinh tradng nay.

443. LORRAIN
(Xem STRUM PELL - LO RRAIN )

444. LORTAT - JACOB (B en h)

Benh da co b o n g nhay dinh va teo niem mac (dermatie

bulleuse muco - synechiante et atrophiante) (Etienne Lortat
- Jacob, 1956) bieu hien benh pemphigut d mat va co kha
nang gay co rut thuc su ket m ac - mi vdi kho mat va kho

244
le. NhCfng ton thtfcfng bong ntfdc, niem mac va a da thtfdng
phoi hop vdi ton hai d mat.

445. L O W E (Hoi chtfng)

Hoi chtfng m i t - nao - than Lowe va cong stf iT crrey

vd M e.Lachlan, 1952), va sau dd duoc Bickel (1954) nghien
cufu them, co ve la m ot benh chuyen hda, di truyen theo
kieu l£p va c h i c la cd lien quan vdi gidi tinh. Hoi chtfng
xay ra d tre scf sinh hoac tre rat thef au d gidi nam, tien
luong ddng stf. Trieu chufng gom cd:
C ac dau hi£u ve th an . T o n hai dng than va ddi khi
d tieu clu than, gay ra protein nieu nang, nhung glucose
nieu thi khong h&ng dinh. Do pH nUdc tieu cao. Nhat la
tang cao acid amin nieu. Phoi hop them c6 c6i xtfcfng kieu
than, chong vitamin. Co di dang xtfdng, l6ng ngtfc, doi khi
gay xuong ttf nhien va chup X quang cho th ly loang xtfcmg
tan man. Them vho c6i xtfcmg cdn c6 cham ldn.
Dau hi£u sq nao. Chu y§'u la cham phat trien tri tuQ,
trtfdng hop nao cung cd, doi khi tao ra mQt stf tri don thtfc
stf. Trtfong ltfc co k6m va ma't phln xa ma khong cd mQt
triQU chiing ton hai than kinh nao khac, lam cho nang
them tinh trang sa sut tam than. Cln chu ^ c6 th£ di dang
so va so - mat, nhtf dau hinh thuyen, loi nhan cau va btfdu
tran nho r§ng.
D a u h i$u of m at. Cd:

- Due the thuy tinh bam sinh, gin nhu hang dinh, due
toan bo hoac due nhan trung tam. Thtfdng due ca 2 ben.
Dang lam sang khong dac hieu; - Glocom bam sinh c6 loi
m it trau. Glocom don thuln, hoac chi loi m it trau thoi.

245
Nhan ap tang trong 50f/c cac truang hgp va phoi hgp vdi
due the thuy tinh bam sinh.
Nhung dau hieu phu khac a mdt cd dugc mo ta nhu
rung giat nhan cau, lac, luu ton m ang ddng tu. Haut c6
nhan m anh den trieu chiifng co ddng tti, rat tra ngai cho
viec kham the thuy tinh vd ddy mdt.

446. LYELL (Hoi chufng)

H oi chufng Lyell (1956) Id mot b?nh bong bi£u bi bong
(epidermolyse bulleuse) o at ph6 'i hgp vdi mQt hQi churng
toan than ndng. Ton hai chi nh&m vdo bieu bi, trdi lai ldp
chan bi (derme) thi gdn nhu hodn todn nguyen ldnh. Benh
it thay va cdn nguyen chua ro; cd the nguon goc la do dj
urng doc to, vi trong da so cac trudng hgp, yeu to khai dong
hinh nhu la mot thuf thuoc nao dd; dac biet la nguai ta
quy cho thuoc sulfamit cham. Mat khac, cac benh nhan
thudng cd tien sur di ling da. Can chu y la trieu chung gan
giong nhu trong hoi churng Stevens - Johnson, va mot so
tdc gia cho 2 benh ndy la rat gan nhau.

T rong qud trinh cua hoi churng, rat thudng cd ton thuang
a mdt. Chu yeu la nhurng di churng ve mdt churc ndng cua
hoi chting Lyell (Decroix). Thudng la nang, ddn den mu.
T on thuang a bieu md k et m ac vd gidc mac. Qua trinh seo
hda d ket mac dien bien tir tCr va gay dinh, tao ra dinh
mi - cau (sym blepharon) va nhting dai chdng <brides i. dan
den bien chting khd mdt. Tdn thuang gidc mac gav due
khd dam vd cd nhieu tan mach.
Dieu tri phau thuat nhting loai ndy, giong nhu trong
bdng mdt, rat khd vd vo hy v o n g (gh ep n iem mac, tao hinh
mi, ghep gidc mae.v.v...).

246
 M
447. M A C C A R T Y (Phan xa)

Phan xa sinh ly than kinh sinh ba - mi mat. Kich thich

day than kinh tren ho' mdt (day than kinh sinh ba) bang
cach go vao vung long may, vung thai ducfng - canh q uyln
thi ca vong cung mi co lai kha manh (day than kinh mSt).

448. M A FFU C C I

(Xem OLLIER)

449. M A G E N D IE

(Xem HERTWIG - MAGENDIE)

450. M A N T H N E R (Viem gidc mac chd'm)

T h i ldm sdng cua b§nh viem gidc mac chd'm cd ddc
diem Id nhurng 8 not mdu xdm nhat d trong ldp sdu cua
gidc mac, tdch rdi nhau bdi nhffng khoang nhu mo cdn
nguydn ldnh. Loai vigm gidc mac ndy thdy c6 trong benh
giang mai hau phdt.

451. M A R C H E SA N I

(Xem W EILL - MARCHESANI)

452. M A R C U S G U N N (Hien tucfng)

Hien tuong Marcus Gunn (1883) Id su dong dong trai

nghich giufa mi mdt vd hdm (syncinesie paradoxale palpebro

247
- maxillaire) gap trong mot so trudng hop sup mi bam sinh.
Luc do sup mi nhu la het. tham chi mi tren co rut lai khi
benh nhan ha mom hoac dua ham ve phia doi lap. Hi£n
tuong ngoai y muon nay, thucmg d mot ben, nham trung
hoa sup mi, doi khi co kem theo tinh trang tron to thifc
su.
Dau hieu nay it nhieu kha ro vd khong thay xay ra o
tre it tuoi. Trong mot so trudng hop, hifn tuong Marcus
Gunn xay ra d ca 2 mdt vd c6 the k6m theo mot stf suy
sup van nhan nhu liet co thin g tren ching han.

Hien tuong dong dgng nay duoc giai thich b&ng stf phdn
bo' th in kinh khong binh thudng x iy ra gitfa nhtfng soi
than kinh cua day III chi huy co nang mi vdi nhanh nhai
cua day sinh ba. Di tat bam sinh nay doi khi co tinh di
truyen.

- Hifn tufOng Marin Amat (1924 - 1930) la dau hieu

Marcus Gunn dao nguoc: ngam mieng lai thi khe mi nhim
va doi khi chay nUdc m it vd nude bot mot cach bat binh
thudng. Su dong dong nay hodc bam sinh hodc hau phdt xay
i a khi co ton thucfng than kinh (liet day than kinh VII).
- Wartenberg (1946) co m o ta mot phan xa d o n g dong
bat thucfng (phan xa gidc m ac - ham) Id khi ta cham vao
giac mac d mot mdt thi ngoai viec mi mdt nhdm lai theo
sinh ly se con gay ra dong tac ham dudi dua ngang sang
phia doi lap.

453. MARCUS GUNN (dau hieu ddng tU)

Dau hieu Marcus Gunn (1904) bieu hien bdng su gian
dong tuf mot cdch bat thudng tiep theo sau stf co dong tu

248
rat ngdn khi chieu sang vao; thay d mdt bi viem thi thdn
kinh khi ta che mdt lanh Mot trieu chufng thudng gap nhu
vay, chiing to thi than kinh bi suy sut va trong trudng hop
giam thj luc co day mdt binh thudng, no se cho phep ta
phan biet giufa m ot ton thuang true thj thdn kinh hoac
hoang diem vdi m ot suy sut thj luc hoan toan co nSng.

454. M A R F A N (Hoi chdng)

Hoi chdng duoc. Marfan mo ta (1896) dudi cai ten tat

chi dai va hep (dolichostenom^lie) ma moi nha nhan khoa
deu biet, co the xem nhd la mot benh ciia he thong tUcrng
dng vdi mQt loan sdn phoi trung bi tdn man vdi tdn hai
cua mo ddn hoi (tissu 61astique).

- HQi chdng Marfan rdt hay di truyen. Vd di truyen theo

phuong thde troi autosom cd do tham nhap hoan toan, nhung
d§ the hien khdc nhau; dieu ndy giai thich stf hay c6 cdc the
nhe vd don chdng md ta can phdi biet phdt hien.

- Benh xay ra ngay ttf khi con It tuoi vdi ddc diem Id
cd 3 nhdm ldn cac trieu chdng ndng nhe khdc nhau tuy
theo trudng hdp: bien ddi hinh thdi, di dang d mdt vd roi
loan tim - mach.

1. Bien doi hinh thai. Cd tinh chd't kinh dien vd 1dm

cho cac benh nhdn co ve nhu trong cung gia dinh. Chi ddi
ra va mong di, manh khanh, ban tay nho, hep (tay nhen).
Ban chan cung dai ra, vom ban chan xep xuong. Benh
nhan co ve dai ngudi ra, gdy, hoi cao them Id nhufng n6t
dac biet. Mdt cung ddi ra (dau ddi), tai cd the bi lech lac.
Cd ca di dang cua long nguc, theo hinh phlu; ngudi nhu
tre con (nhi tinh) cd tinh hodn an (cryptorchidie), cd tdn

249
hai hd cac dirdng tiep (atteintes dysraphiques i vdi ntit dot
sdng (spina bifida). Qua nhieu nam, sir nhuoc san cd v&
tinh trang qua nhao hay co cufng khdp se dan den gu lung
hoac gii - veo cot sdng.
Chup X quang xac nhan cac dau chi bi dai ra vd mong
di, ddi khi thay ca nhufng ke van hitnh xirang (stries
metaphysaires) d cac xirang dai.

2. Di d an g m i t . Cd lech the thuy tinh d ca 2 m it lam

giam thi luc; cd khi phdt hien duac qua vifc khdm c6 hf
tho'ng sau gian dong tuf b&ng thuoc. V l nguyen tic , l#ch
ca 2 ben, can xting, a phia mui tr£n. Soi sinh hi£n vi,
thirdng thay khong phai la thieu cac sgi day treo. md day
la day treo bi nhugc san va keo dai ra.

Ngoai su lech chd, rat thudng thav the thuy tinh cd

nhurng di dang ve hinh thai, thuc te la the thuy tinh nho
va hinh cdu (micro - spherophakie), do dd gay ra can thi
nang. Thay cd ca nhurng chd lem nhieu d the thuy tinh,
nhting khuyet tat (colobome) don le hoac nhieu d the thuy
tinh. Dong tti gian kem. Cung cd neu len nhting di dang
khac ntia nhu khuyet tat mong mdt thi than kinh, ho&ng
diem, gidc mac to, luu tdn mdng dong tti, di dang gdc mong
- giac mac, viem vong mac sdc to' va mu mau.

Nhung can phai chu y den nhting bien chting dang sa

cd the xay ra trong qua trinh tien trien benh nhu:

- Bong vdng mac thudng la nang, khd kham thay va

phdu thuat it ket qua.

- Glocom cung anh hudng den mdt chtic ndng sau nay.
Glocom thti phdt xay ra sau lech hodc sa th£ thuy tinh; cd

250
the tien trien theo kieu man tinh, tham lang. Phau thuat
sdm the thuy tinh bang phucfng phap rach bao (discision),
co the trong chting muc nao do de phong duac cac bien
chufng noi tren, nhung cung khong nen trong chd lam.
3. R oi loan tim - m ach. Rat hay xay ra (20 den 50%
cac trudng hup) va anh hudng den tien luong sinh menh;

- Ton thuong dong mach cliu thudng cd nhu hd lo dong

mach chu, phinh mach hinh thoi. Can nhan manh hiem
hoa cua phinh mach tach (anevrysme dissequant) la bien
churng ldn nhat;

- Ton thuong dong mach phoi, it n£ng hon;

- Thong lien nhi hodc thdng liSn thdt cung rat hay thay
cd.

- Sau cung la cac tdn hai ve difn tam do thudng hay

k&m theo suy tim.

Sinh bfnh hoc cua hoi chting nay cdn rat t&m tdi va
dang duoc nghi§n ctiu; nhting su bS't binh thudng cua
hydroxyprolin thai ra vdi so lUdng ldn trong nUdc tidu 1&
mot trong tSm nghien ctiu.

455. MARIE VA GUILLAIN

(Xem BENEDIKT)

456. MARIE (P.)

(Xem STRUMPELL - MARIE (P) VA BECHTEREW)

457. MARIN - AMAT

(Xem MARCUS GUNN)

251
 458. M A R IN E S C O - SJOGREN (Hoi chufng)
Hoi chiing Marinesco (1931) vd Sjogren (1950) Id m§t
bien the cua hoi chufng Sjogren (due the thuy tinh bdm
sinh vd tri don tam than. Xem hoi churng ndy).

Trieu chiing cua hoi chiing Marinesco vd Sjogren gdm c6 :

- Due the thuy tinh bam sinh, nhanh chdng due todn
bf ngay tdr nhufng ndm ddu;
• Thieu ndng tam than, doi khi tri don thuc su.
• Mat dieu hda tuy song • tieu nao ve mdt tinh hem
Id mdt dfng, cd mdt phdn xa, rung gi$t nhan c£u. Ddi khi
t#n thi/dng thdn kinh goi l§n dang ldm sdng cua lift hai
ben co ciing (diplegie spastique) hodc mot teo co than kinh
(Charcot Marie va Tooth).

Nhufng di dang khac cd the phoi hop vdi bo 3 trieu

chiing ndi tren nhir lun, gii - veo, dj dang khdp va ngon.

Hoi chiing Marinesco - Sjogren di truyen va hay thay

bo' me ciing huyet thong; truyen theo kieu lep autosom.

459. M A R IO T T E (Cham, diem)

Diem mil Mariotte (1668) la Id thung thi giac do gai thi
khong cd cac yeu to' de nhan thiic thi giac Gai thi a phia
mui, cdn diem mil thi ndm trong thi triTdng thai duong,
ben ngoai diem dinh thi vi hinh dao nguoc so vdi thi trudng.
Nhu vay diem mil se the hifn nhir mot dien bau due nho,
cd dirdng kinh 7 - 8 do va d ngay dudi kinh tuyen ngang,
cach no khoang 12 den 15 df.

252
 460. M A R O T E A U X

(Xem HURLER)

461. M A R T O R E L L

(Xem TAKAYASHU)

462. M A S U D A

(Xem KITAHARA)

463. M A U R IA C (Hoi chiing)

Hoi chiing Mauriac la dac diem cua nhurng the benh ddi
thdo dudng xay ra sdm d ngiidi t r f . Cfng them vdo trieu
chiing lam s&ng vk sinh hoc cua benh ddi thdo kinh dien,
con cd nhufng roi loan ve sinh trudng nhtf lun, mat tron
nhtf mat trang, cdc ddu hieu trung nao - tuyen yen va loang
xtfong.

Trieu chtfng d mdt chu yeu la due the thuy tinh benh
ly va benh vdng mac do ddi thdo xud't hifn sdm vk ctfc
nang.

464. M A Y O U

(Xem BATTEN - MAYOU)

465. M A E D E R V A D A N IS (Loan dtfdng giac mac)

Loan dtfdng sau giac mac hinh soi chi Maeder va Danis
(dystrophie corn^enne filiforme profonde) (1947) the hien
bang rat nhieu nhurng soi due, mdu trdng xdm nhat. Nhtfng
cho due ndy d ldp sau cua giac mac, canh m&ng Descemet,
nhtfng vdn ton trong vung chu bien sdt ngay ria giac mac.

253
 466. M E E S M A N N (Loan dtfdng bieu rao)

Loan duong bieu mo Meesmann (1938) va Meesraann -

Wilke (1939) la ton hai d phan trtfdc gidc mac, xay ra d
ca hai mdt.

Soi sinh hien vi cho thay c6 nhilu cham nho mdu xdm
trdng nhat, giong nhtf nhtfng mun ntfdc nh6 d dtfdi ldp
bieu mo giac mac va c6 nhieu hon d difn khe mi. Loan
dtfdng nong gidc mac ndy xuat hifn d tre it tuoi vd di
truyen theo kieu troi. Gidm thi ltfc thtfdng khong nhieu.
Tuy nhien nhtfng dot xtfdc bi£u m6 c6 th<? gay dau nhtfc.
Xet nghiem mo benh hoc cho thay cd te bdo bieu md hdc
chtfa dtfng mot chat glycogen. Ghep giac mac nong la
phuong phap dieu tri thich hop.

467. MEIGE

(Xem NONNE - MILROY - MEIGE)

468. MELKERSSON - ROSENTHAL (Hoi chtfng)

Hoi chtfng Melkersson (1928) vd Rosenthal (1931) la

mot thtfc the lam sdng rat hiem thay, gom bo 3 trieu
chdng:

- Phu mat tai dien, nhieu d mi, d moi, kieu loan than
kinh mach va thtfdng khong dau. Nhtfng dot phu tai phat
se dan dan dan tdi phu man tinh.

- L ift hoac lift nhe day than kinh mdt tai dien, di
kem hoac xay ra trtfdc dot phu.

- Ltfdi nhan, ne nhtf da biu (aspect scrotal); di dang

ltfdi ndy la bam sinh.

254
 Ti'nh gia dinh cua hoi chufng co trtfdng hop dtfoc xac
minh va di truyen theo kieu troi. Can nguyen cua ton
thtfong day than kinh VII va IX con chtfa ro.
Bieu hien d mat chu yeu la hd mi co dau nhtfc va kich
thich mdt trong cac con liet. Doi khi kem theo liet mat co
nhufng can kich phat chay ntfdc mat. Ngoai viem giac mac
ngay canh ria, ngtfdi ta cdn thay cd viem giac - ket mac
khd, ldi nhan cau tai dien, viem thi than kinh hau nhan
cau va cac ton thtfang van nhan (VI).

469. MENDE (Hoi chting)

N3m 1926, Mende co mo ta mot hoi chting phoi hop

cdc dau hieu bach tang vd cam - diec.
- Chting bach tang cuc bo gay bac long m&y, long mi,
tting dam toe bac d trdn, nhting v ft lang trdng d than va
cdc chi.
- Diec bam sinh va thoai trien.
Ngtfdi ta cung cd ndi den stf phoi hop mot dien mao
Mongoloid vdi stf tdn ltfu d ngang cd ddm long to phoi thai
(lanugo foetal).
Stf hifn difn mot di sdc mong mdt cho phep nghl rdng
hoi chtfng Mende va chtfng Waardenburg - Klein la cung
ho h&ng vdi nhau.

470. MENIERE (Hoi chtfng)

Hoi chtfng Meniere co diSc diem la nhtfng con dau me

dao. Bieu hien bdng nhting con chong mat vdi cam giac
xoay chong chong dti doi, dtfgc bao trtfdc bdng nhtfng tieng
thoi hoSc u tai c6 kem theo buon non va non oe, do do

255
benh nhan co the nga nhao. Ch6ng mat dien ra ttfng con
n g i t quang. Gitfa khoang cdc con, c6 diec tai it hoac nhieu,
co tieng u tai va tieng thoi lanh lanh.
Nhufng luc chong mat, co nhufng bifu hifn da dang d
mat nhu: cam giac dom dom, dm die'm duong tinh, md mit
thoang qua, con song thi. Di nhien rung giat mit theo
chieu ngang la mot dau hieu kinh dien, xdc nh£n mft
nguon gdc me dao. Sau cung ngtfdi ta thiy mit phin xa
giac mac.

471. MENKES (Bfnh)

Menkes (1962) da nghien ctiu hfi chting ndy mil ong
thay xay ra d tre tho du, tti 3 den 6 thdng, IS nam gidi
Benh cd ve di truyen theo kieu I6p gin lien vdi gidi tinh.
Trieu chufng gom nhting di dang d tdc nhu toe manh, khong
cd sdc to, thtfa va yeu dt. Nhtfng dau hieu ton thtfong so
va tieu nao vdi suy kem truong ltfc, giam hodc tang phan
xa va nhat la tri cham tinh than, se dan den mot trang
thai mat nao thtfc stf (d^cerebration). Sau cung, tinh trang
suy dinh dtfdng nang gay ra sut can se din den tii vong
trong nhtfng thdng dau hoac nhtfng ndm dau. Dau hieu d
mat (Sealenfreund - Gartner - Vinger) bieu hifn ddi khi
bdng mot hoi chting mu va soi ddy m it thay gai tai nhat,
vdng mac binh thtfdng. Cac tac gia ndi tren cd lam xet
nghifm giai phdu bfnh trong 1 trtfdng hop, thay cd nhieu
vi u nang or ldp bieu mo mong m it, mot su sut giam cac
ldp te bao hach vdng mac va mot teo cuc bo thi than kinh

472. MERZBACHER
(Xem PELIZAEUS - MERZBACHER)

256
 473. M E TE N IE R

(Xem E U LERS - DANLOS)

474. M E Y E R (Dau hieu)

Trieu churng nay la phu ne va sung huyet ket mac phia
trong cf ngay nep gap ban nguyet. Dau hieu Meyer xay ra
d thdi ky li b fn h sdi.

475. M E YE R - SC H W IC K E R A T H (Hoi chtfng)

Loan san m i t - r&ng - ngdn Meyer - Schwickerath (1957)
la mot tap hop nhieu di dang phtfc tap, gom cd:
- Di dang cf m it: nhan cau b6 ca 2 mit, glocom bam
sinh, di dang mong mit, 2 mit xa nhau vd nep quat goc mi;
- Di dang r&ng, chu yfi'u Id nhtfgc san men rdng;
- Di dang ngon: dinh ngdn thtf 4 vd thtf 5 vdri mong
ngdn (cong ngdn: camptodactylie), 6 ca 2 bdn tay.
Cd phoi hop them nhtfng di dang khdc nhtf diu be,
ngtfng phat trien khoi xtfong mdt, mdt ngin vd nhtfoc san
canh mui. Rung toe vd it long bo sung vdo tap hop di dang
ndy, cong them cac di dang xtfong linh tinh khdc. Mdi ddy,
ngtfdi ta c6 ndi ve tinh trang vi difn the nghiem trong
(microvoltage important) va keo ddi cua difn tdm d6.

476. MICHEL (VON) (Chd'm)

La nhtfng seo nho khong sic to' dr chat df m mong m it
sau mot viem nhiim lao, ddc bift Id lao ke.

477. MIKULICZ (Bfnh)

Dtfgc tdc gia mo ta ndm 1888 vd 1892, bfnh Mikulicz

Id stf cdng phong vd phi dai cua tuyen ntfdc bot vd tuyen

257
nude mat d ca 2 mat va can xOrng, dang man tinh Bfnh
kha hiem ; ve mo hoc, do la mot u lympho bao hoSc u hach
bach huyet (lymphadenome) c6 tham nhiim vao mo ket
mac nhd nhu mo tuyen.

- Trong the thong thudng, nhat Id d ngudi tre, bfnh

khdi phdt mot cdch thdm ldng.

- Su phi dai tuyen le cd 2 ben 1dm sung phdng phin

phia ngoai mi tren vd cdng phong cung dd ket mac tr£n
d vung tuyen If phu. Khe mi bi hep lai vd bfnh nhdn kh<5
md mdt. Sd n in thdy duoc tuyfn If d mi, khdng dau vd di
dong.

- Su phi dai tuyen ni/dc bpt cung d ca 2 mdt, chu yeu

la d tuyen mang tai; nhiTng dong thdi cung c6 phi dai tuyen
dudi ludi va tuyen dudi ham; tuyen vom mif ng vd cdc tuyen
phu d ddu mieng ong Stenon cung phi dai. Cdn nhd la su
phi dai tuyen nude bot ndy khong dau vd khong can tra
nhai.

Su phat trien bat thudng cua tuyen le va tuyen nude bot

ldm cho bfnh nhan co bo mdt ngai ngu, nhu hinh qua le

Kham lam sdng khong thay ndi hach; gan va lach khong
tdng the tich; dem hong cau vd cong thde mdu binh thudng.
Sau mot thdi gian tien trien kha lau, va khong bien chufng
thi bfnh thoai lui, mac ddu ngudi ta co noi ring v i n con
sung phong cdc tuyen.

B fnh Mikulicz co ve nhu mot thuc the lam sang ma

ban chat thuc su cua no con kha bi an.

Ben canh "bfnh" Mikulicz ndy, cin phai tdch biet hot
chdng Mikulicz" tap hop tat ca nhufng trudng hop cang

258
phong can xting vdi tuven nude bot, va nirdc mat cd can
nguyen cu the. M ot hoi churng da tuyen nhu vay thay xay
ra trong benh Hodgkin, benh bach cau, benh lao va benh
giang mai. C l n phai dac biet luu y den benh Besnier -
Boeck - Schaumann cd the gay ton hai cho nhieu tuyen
trong khuon kho hoi chting Heerfordt. Ngtfdi ta cung cd
noi den hoi Mikulicz trong benh quai bi.

478. MILLARD - GUBLER (Hoi chting)

Hoi chting Millard - Giibler (1856) la mot hoi chting than
kinh bieu hien ton thuong 0 diu nao danh vao re cua cac day
than kinh mat, van nhan ngoai (VI) va dtfdng bo thap trtfdc
khi bdt ch6o. Hoi chting Millard - Giibler la mot hoi chting
giao ben dien hinh, phoi hop liet cac day th in kinh so
cung phia tdn thuong vdi liet ntia ngtidi phia ben kia.

- Hoi chting kinh dien do tdn thuong d phan trtfdc cau

nao gom co:

. Liet ntia ngtfdi ch6o.

. Liet mat thin g kieu ngoai bien.

. Liet day VI cung ben phoi hop vdi liet mat hoac thay
the liet mat.

Cd nhieu bien the trieu chting tuy theo khu tru cua tdn
thuong va se tao ra nhting the benh It dien hinh hon.

- Neu tdn thuong vtiot qua dudng gitia cua nao thi se
dung tdi cac scfi re cua day thin kinh VI phia ben kia va
trieu chting se gom cd:

. Liet day VI ca hai ben vdi liet day VII cung ben tdn
thuong.

259
 Liet nua ngtfdi phia ben kia.
- Neu tdn thuong lan len tdi chom cdu nao, thi se dung
vao dai Reil va gay ra:
Liet day VI vk day VII cung ben vdi tdn thtfong
. Liet ntfa ngudi va te mia ngtfdi phia ben kia (hpi chtfng
Millard - Giibler cam gikc).

- Ton thtfdng phia ltfng - ben (dorso - lateral) dlu nao s i

gop them vao hoi chtfng giao b£n nhdng tdn thtfdng cua diy
than kinh sinh ba nhtf te m&t va mat phdn xa mac.

479. MILLES
(Xem STUGRE - WEBER - KRABBE)

480. M ILR O Y

(Xem NONNE - MILROY - MEIGE)

481. M IN K O W SK Y - CH AU FFAR D (Hoi chtfng)

Vang da tan mau co tinh gia dinh d tre mdi sinh co

kem theo thieu mau, gan to, gay nhtfng di dang cho xuong
va cac loan dtfdng. Ve mdt, ngtfdi ta co mo ta nhtfng di
dang khe mi (Mongoloid), nhan cau be, di sdc mong mdt
va cac tdn hai d the thuy tinh, giac mac.

482. M IZU O

(Xem OGUCHI)

483. MCEBIUS (Hoi chtfng)

Hoi chtfng Moebius (1888 - 1892) 1£ mot tap hop trieu

chtfng d tre so sinh gay liet mfit d hai ben (liet hai ben

260
mat: diplegie faciale), phoi hop vdi liet van nhan nhin
ngang, thtfdng hay liet dong tac dtfa mdt ra ngoai.
- Dien mao ciia dtfa be ctfng dd, thd than, mieng ha ra,
mi nhSm khd (dau hieu Charles Bell ro). Doi khi cd nhtfng
con chdy ntfdc m at va n£t mat dd ra nhtf mat na, ke ca
khi dtfa b6 keu la.

- Dong tdc cua mdt khong the thtfc hien dtfgc khi
nhin sang ben. Lac trong do ton thtfong d&y th in kinh
dtfa mdt ra, thtfdng cd nhtfng khong nhdt thiet phai cd.
Dong tac dtfa mdt len xud'ng v in thtfc hien dtfgc. Thi
giac khong bi roi loan, nhtfng dtfa b£ phai quay ddu theo
khi nhin de bu ddp cho li§t v£n nhan. Phdn xa dong tuf
binh thtfdng.

Nguon gdc cua hoi chtfng gay ton hai cho cac nhan d£y
thdn kinh VI va VII nay la do bdt sdn bdm sinh cua cau
nao.

Ddu sao thi di dang nay cung thich tfng dtfgc vdi mot
cuqc song keo dai. Nhtfng di dang phoi hgp khac cd dtfgc
mo ta nhtf ban ch£n veo, diec, tri don tam thdn, di dang
tai, nhieu ngdn,v.v...

Ngtfdi ta muon giai thich stf bat san cua th in nao bdng
ttf the cua phoi trong tuf cung, dau nga ve phia trtfdc gay
ra tang ap ltfc dich nao - tuy d san nao that IV.

484. MCEBIUS (Dau hieu)

Ddu hieu Morbius (1881) dtfgc m6 td trong benh ctfdng

tuyg'n giap cd dSc di£m la khi nhin gdn, quy tu khong dtfgc
hoac khdng du sure.

261
 485. MONCRIEF (Dudng)
Dtfcfng Moncrief (1932) la stf ngUng dong sic 16 khdng
dien hinh d lop bieu mo trudc cua gidc mac, chay ngang
qua giac mac cho den ria. Na na vdi dudng Stocker cung
co sic to d ldp bieu mo nong giac mac, khdng dung d£n
mang Bowman va mo dem. Nam 1939, Stocker cung cd md
ta mot dudng sic td dudi dang mQt dai bang m&u niu,
song song vdi dlu mong thit.

Tat ca nhung dang phan tin sic td d ldp ndng giac

mac nay (dudng Moncrief, dudng Stocker) cd chd giong vdi
vdng Fleischer va dudng Hudson •Stahli. Diy la stf
nhap sic td s it vao cac ldp ndng cua giac mac ma sinh
benh hoc con bi an.

486. MOON
(Xem LAURENCE - MOON - BARDET - BIEDL)

487. MOOREN (lodt)

Loet v in veo (ulcere serpigineux) hay lo£t nao sau tulcus
rodens) giac mac Mooren (1867) la mot the kha hiem cua
loet giac mac, khdi phat tU bd giac mac. Benh bit diu
bing nhtfng not tham nhiim nho mau tring - vang nhat,
d in din gay ra nhtfng cho loet cf chu bien, ngay canh na
giac mac. Loet tien trien din vao trung tam giac mac dudi
dang nhtfng rang ctfa loi lom khong deu va dao sau den
tan 2/3 chieu day giac mac. Lo£t co the xam chiem hoan
toan trung tam giac mac ma trtfdc dd cdn trong suot. Kem
theo lodt cd mach mau di ttf ngoai ria vao, dtfdi dang mot
cai mang mang mach (voile porte - vaisseaux) va phu kin

262
nhurng vung gikc mac bi loet trade do. Han htiu mdi bi
thung giac mac, ngan mu cung vay. Trieu chufng ca nang
doi khi nghiem trong vdi cac dau hieu so anh sang, co
quip mi va chay ntfdc mat. Co the bi benh d ca 2 mat.
Sau vai tuan tien trien, qud trinh loet cd the ngtfng.
Trong mot so trtfdng hgp, loet co the chi d mot vung hoac
mot ntia giac mac. Thtfdng co phan tfng mong m it.

Mac dlu benh thtfdng xay ra d ngtfdi gia nhtfng ngtfdi

ta cung cd mieu ta b?nh 6 ngtfdi tre va d tre em. Thtfc
chat cua loet Mooren cdn chtfa dtfgc biet ro. Tuy nhien
ngtfdi ta cd neu len nhieu nguyen nhdn nhtf vi khuan, virus,
lao va loan chuyen hda.

Ngudn goc gia dinh la ngoai l£.

Cdc xet nghiem ve mo benh hoc da khdng phdt hien

dtfgc nguyen nhan cua loai loet vin v6o gidc mac xuit phdt
ttf vung ria ndy. Tuy vdy, lo£t Mooren vin thtfdng thay
nhieu han d nhtfng m it da bi mot benh ket mac lau ngdy.

Ghep gidc mac nong theo vung hodc theo hinh vdng cd
ve Id phtfong phap dieu tri khd nhd't do'i vdi nhtfng the
dai ding.

488. MORAX ■ AXENFELD

(Viem mi - ket mac)

Loai viem ket mac nay dtfgc Morax va Axenfeld xac

dinh nam 1896. Benh canh lam sdng Id vi6m mi - ket mac
d gdc, nhat Id gdc trong, b§nh d ca 2 m it. Num le
(caroncule) dd, phu n£; chd't tiG't ruf n h ly - mu va it. Dau
hieu cd ndng chu y£fu Id ngufa. Bi§'n chtfng it mdc dlu cdc

263
xirdfc giac mac cung co duoc mo ta. Tien tri^n thay ddi tuy
trudng hop, nhung thudng la thuan loi sau 1 hay 2 tuan.
Nhan to gay benh duoc xac dinh ro 16 song true khutfn
(Morax - Axenfeld), gram am, thfi'y cd te bao bi£u md bong
ra. Nhu vay, benh viem ket mac nay cd the mang tinh
chat lay lan va dich ti. True khuan gay bfnh cho k it mac
qua sU trung gian cua 16 mui v k If dao.

489. MOREL
(Xem MORGAGNI - MOREL)

490. MORGAGNI (Due th£ thuy tinh)

Vdi tU nay, hoac con goi la due the thuy tinh Morgagni,
ngudi ta muon chi nhUng due the thuy tinh qua chin da
trai qua mot qua trinh hoa thanh nUdc. Nhufng dam the
thuy tinh thtic sii da tan ra trong tui bao cdn nguyen ven;
cdn nhan mau nau vang nhu ho’ phdeh (ambre) thi roi
xuong thap, dam trong chat nude the thuy tinh va cd the
di chuyen theo khi dau nghieng sang ben. Giai doan qua
chin n&y thudng thay trong due the thuy tinh bam sinh
Co the gay bien chUng nhu kich thich noi nhan bdi chat
doe cua nude the thuy tinh thodt ra ngoai qua khe ntft cua
bao v i gay tang nhan dp thtf phdt. PhSu thuat loai due
the thuy tinh nay khd khan bdi bao di vd

491. MORGAGNI - MOREL (Hoi chung.

Hoi chtfng Morgagni (1765) va Morel (1930), cdn duoc
biet dudi cai ten la day dac mat trong xuong tran. Trieu
chtfng gom chu yeu la day dac xUdng trong so, d mat trong
xuong vdm so, nhat la xUdng tran. Day dac ban trong cua

264
xtfang so hoan toan dtfdc xac dinh bang chup X quang phia
ben xtfang so.
Beo phe a phan than va ram long (hirsutisme) nhat la
d mat, cd the la do mat can bang cua he nao trung gian
- tuyen yen.
Thtfc te la ngtfdi ta cung co mo ta nhtfng trieu chtfng
khac nhtf mat kinh, loan nSng tuyen gidp va dai thao nhat.
Thtfdng hay co cac roi loan tam thdn va tinh net. Can
nguyen cua hoi chtfng chtfa biet ro. Thtfdng xay ra d phu
ntf, vao khoang tuoi 50.
Han htiu mdi cd bieu hien d mat; tuy nhien cd trtfdng
hcfp bi giam thi ltfc do day thi than kinh bi ch&n ep d ong
thi hodc d doan ra khoi ong thi do nhting gai xtidng tdng
sinh. Luc bay gid can phai can thiep de giam 6p. Rat hiem
thay ton thtfdng cua dtfdng thi gidc d doan giao thoa.

492. MORQUIO
(Xem HURLER)

493. MORQUIO - ULLRICH

(Xem HURLER)

494. MORSIER (DE) (Loan san vdch - thi gidc)

Loan san vdch - thi gidc De Morsier (dysplasie septo -
optique) (1956) dtidc Saraux va cong stf nghien ctiu Id stf
vo sinh cua vdch trong suo't (septum lucidum) va co the
phoi hop vdi nhting di dang cua cd quan thi gidc.

Nhting the benh ndng gay mu hodn todn do teo thi than
kinh, vdi rung giat nhan diu, ldc m&t va tham chi doi khi

265
khong co ca nhan cdu. Nhting bat thuong khac cung thdy
co nhu ve thdn kinh thi tri cham tam than - van dpng vd
cudng thi (hypertonie), ve di dang ccJ the thi cd ntit dot
song va thodt vi ron.
Chup X quang nao bom hoi cho ph^p phdt hien nhting
the nhe, thudng d mot mdt vd ben m it trdi.

495. M O SK O W SK IJ (Ddu hi^u)

Trieu chting nay the hi#n b&ng gian d6 ng tti m$t bdn
do phan xa d xa, xuat phdt tti mdng bung (vi£m rudt thtia,
viem tui mat, viem ruQt ket).

496. MULOCK HOUWERS

(Xem GOUJEROT - SJOGREN)

497. M U NSON (Dau hieu)

Bdng cdch doi chap dudng kinh tuyen ngang cua gidc
mac vdi bd mi dudi, khi benh nhan nhin xuong, ta cd the
xdc dinh khd d i dang tinh trang gian ldi da ndng cua giac
mac trong benh gidc mac hinh chop.

498. M YGIND (Dau hieu)

Duoc Kestenbaum ke ra, dau hieu Mygind la su tao ra

mot rung giat nhan cau cung ben khi ta gay chen ep bSng
hdi vao ong tai ngoai. Trieu chting nay chting to co ro a
me dao. Neu ngtioc lai thi chen ep hoi se gay ra rung giat
nhan cau d m it ben kia.
Dau hieu Hennebert Id hien tUdng cung giong nhu trong
dau hieu Mygind nhung xdy ra trong benh giang mai bam
sinh c h in g han, md khong dinh gi den rd me dao.

266
 N
499. N A E G E L I

(Xem BLOCH - SULZBERGER)

500. N A G E L (Di tat)

Di tat Nagel la mot roi loan sic giac mac bam sinh vdi
dac diem la ton hai thanh phan mau luc (tat mu mau luc:
deutdranopie). Di tat sic gidc jnfiy la tat thiy 2 mau (dichro-
masie) vi mu mQt mau co ban. B^nh nhan chi nhan thufc duoc
mot sic thai trong cfic budc song ngin; sic pho hoi lech ve
phia cac bade s6ng dai (tdi da ddi vdi mau da cam).
May do di tat sic gidc (anomaloscope) Nagel cho thay
ngudi mil mau luc dong hda mau dd d phan tren vdi mau
tring d phin dudi va suf dung mdt miu ving sang chdi hon.
Bang thuf Ishihara cho thfiy cd sti nhim lin cdc chff sd
mau do thfim tren nen xfim. B ing thuf nghi#m Panal D lg
cho thfiy true mau luc bi l^ch den 70°, trong khi vdi test
Farnsworth 100 Hue thi cho thfiy l^ch den khoang 150°
so vdi dudng ngang.

501. NAGEOTTE
(Xem BABINSKI - NAGEOTTE)

502. NEETENS
(Xem FRANCOIS J. - NEETENS)

267
 503. N E V IN

(Xem KILOH - NEVIN)

504. NEWCASTLE (Viem ket mac)

Benh dich sue vat Newcastle dtidc xdc dinh ndm 1927
tai Newcastle - tren Tyn d nUdc Anh. Doyne da chi r6
nguon goc virus cua n6 . D6 Id mpt b#nh dich d chim g&y
ra benh viem phe - nao ldm ch£t gia sue.

0 ngudi, chu yeu Id ngudi ldm nghl chfin nuoi vA trang

trai, bi b^nh viem ket mac bilu hi<?n bdng sung tfify mi vi
tSng san niem mac ket mac; sau 2 - 3 ngay u benh, cac
trieu chting xuat hien va tien trien khd cap dien trong
khoang mot tuan.

Hau nhu luc nao cung noi hach trtidc tai. Viem ket
mac thudng xay ra d mQt mdt. Doi khi the trang bi ton
hai ndng do su xam nhap cua b^nh cum gay ra nhting
triQu chting nhti nhtic dau, dau minh may, viem hong,
sot nhe. Phat hien virus d cung do ket mac va lam xet
nghiem phan ting m iin dich (Hirtz - Burnet) xac dinh
cdn nguyen cua loai viem ket mac nay. Benh khoi kha
nhanh khong de lai di chting gidc mac hodc a cac mo
khdc cua nhan cau.

505. NICOLAS - FAVRE (Benh)

Duoc Nicolas vd Favre mo ta ndm 1913 dudi cai ten

benh lympho hat bdn cap d ben; b£nh ndy xay ra mot cach
bdn cdp dien d cdc hach ben vd chau. N6 duoc coi nhu la
mot benh hoa lilu.

268
 Xuat phat diem cua nhiem khuan hach t.hu'c ra la do
truyen nhiem qua bo phan sinh due mot loai virus dai tii
0,1 den 0,4 micron. Su nhiem truyen dien ra dudi dang
mot loet nong nho kieu herpes tao ra mot sang lympho
hat (chancre lympho granulomateux) lam seo rat nhanh.
Sau dd xuat hien hach d vung ben va chau, nhufng hach
kha rSn va dau it. Ve sau, hach mem dan, lam ro va cd
mu quanh.
Neu khong dieu tri gi thi benh co the dan tdi mot qua
trinh xa hda seo vung hau mon - true trang va sinh due.
Chan doan can lam sang chu yeu difa vao nuoi cay virus,
tiem chung qua chuot va thiif phan ting trong da vdi khdng
nguyen Frey; phan ting nay duong tinh sau 48 gicf va dat
hieu liic toi da gitia ngay thU 4 v& thU 8.

Co nhieu bieu hien d m£t va biet duoc kha ro. Doi khi,
mi khong he bi viem ket mac nhung lai bi phu ne biet
lap, dang man tinh; trong mot so trudng hop, cfic dau hieu
kich thich d mi bieu hien mot phan Ung di Ung thuc sU
doi vdi dnh sfing mat trdi.
Viem ket mac la bien chting ldn nhat, the hien dudi
dang mot viem ket mac Parinaud (xem ten nfiy) vdi hoi
chting mdt - hach. Ngudi ta k§'t t§i cho virus benh Nicolas
- Favre trong sU gay ra mot s6' tinh trang co rut seo cua
ket mac va mi, do do tao thanh mong thit va t£c le dao.
Trong mQt so trudng hop, ton thuong d giac mac la hoi
chting viem giac mac kho; hiem thay vi§m giac mac thuc
sif nguyen phat va dac hieu. Viem mo'ng mat cung it gap;
tuy nhien, c£n phai xem stf di ting duoc xac nhan b&ng
phan ting Frey nhu ltk nguy§n nhfin cua mot s6' trtidng hop

269
viem mong mat dang man tinh va tham lang. Ngudi ta
cung cd neu len viem mang bo dao co ngan mu tai phdt.
Sau cung, cung kha hay thay nhan ap ha bieu hien tdn
thuang cua mang bo dao.

Cac bieu hien d vong mac co duoc neu len vii thuoc v4
trang thai cua tuin hoan tinh mach; tinh mach vong mac bj
tim tai, sung huyet, ngo&n ngo&o va gai bi phu ne, cutmg ty.

506. N IC O L S K I (Dau hieu)

Dau hieu Nicolski (1886) tuong Ung vdi su tieu gai b£n
trong ldp bieu bi (acantholyse intraepidermique)) d benh
pemphigut: vi the, an hoi nhe len mat da ntfi ban d6 cung
co the lam bong lap da nong khoi lop sau. Trieu chung
nay, dac biet la benh pemphigut, cung thay co trong hoi
chUng Lyell a mi m&t. Bong ldp bieu mo nong xay ra trong
mot so viem giac mac do nhting benh d da nay, co the na
na giong vdi dau hieu Nicolski d giac mac.

507. N IE D E N (Hoi chting)

La hoi chting phoi hop nhting phinh gian mao mach vdi
due the thuy tinh, xay ra d tre em cung nhu ngudi ldn
(Nieden, 1887). Cac di dang tim va dong mach chu cho
phep ta xem hoi chting nay nhu mot benh ve he thong.

508. N IE M A N N - PICK (Benh)

Benh Niemann (1914) va Pick (1924) la mot loan dudng

md (lipidose) do tich luy sphingomyelin trong he thong
ludi - noi mo cua gan, lach va phoi. Tham nhap md vao
ca te bao than kinh hach cua vd tieu nao va vong mac.

270
 Benh khdri phat tCf trong nhufng thang dau nidi ra ddi
va gom chu yeu gan - lach to va hach trong toan than. Cd
phoi hap ca tri tre tam than, suy dinh dirdng, cac trieu
chufng than kinh va lipid huyet cao. Dau hieu d mat: cd
cham dd anh dao vung hoang diem va kha nang teo thi
thdn kinh. Chan doan can cur vao su hien dien cac te bao
Niemann - Pick trong sinh thiet gan va lach. Su suy sut
enzym sphingom yelinaza co the la nguon goc cua benh roi
loan chuyen hda dang sg nay. Benh cd the truyen theo
phuang thUc lep autosom, va cd thien hudng chiing toe
(Israen). T ren nhieu phuang dien, hai benh Niemann - Pick
va Tay - Sachs xich lai gan nhau;

509. NONNE - MILROY - MEIGE (Benh)

Phu dinh dudng (trophoedeme) man tinh, di truyln
Nonne (1891), Milroy (1892) va Meige (1898 - 1899) tao ra
tinh trang phu voi (elephantiasis) nhat la cf cfic chi dudi.
Sir di thudng nay, do ton thuong bach huyet bam sinh,
phat trien vfio lUa tuoi day thi va ton tai bat di bat dich
suot ca dcri ngtidi. Thay co nhurng tdn hai or m£t nhu phu
ket mac, trang thai sup mi va glocom bam sinh.

510. N O R M A N - W O O D (Ngu mu)

Chdng ngu mu Norman - Wood (1941) la the bam sinh
cua benh Tay - Sachs (xem ten nfiy). The loai lam sang
hiem thay nay cd the la sU bieu hien sdm cua benh Tay
- Sachs trong cung mot gia dinh (Bamatter, 1961).

511. N O R R IE (Benh)

Benh Norrie (1927 va 1933) la sti mu bam sinh cua tre

em tao ra tinh trang teo nhan ciu di truyen do gia u bam

271
sinh cf ca 2 vong mac. Loai loan dudng vong mac nfing nfiy
nam trong khuon kho nhting gia gliom, cd tinh di truyen
lep va lien quan vdi gidi tinh. Benh truyln tti me sang vi
danh vao con trai. Trieu chting dfiu tien la mpt dam m&u
xam hoac vang o dang sau the thuy tinh ma mdi diu con
trong suot, d mpt tre tho au (1 den 3 thing). Ve sau, thi
thuy tinh bi due, xuat hi<?n cdc chd dinh gitia mong mit
va the thuy tinh, cuoi cung teo nhan cau. Doi khi thfiy c6
suy sup tam thfin d cac mtic do khac nhau, va c6 ca giam
thinh luc.
Sinh benh hoc cua loai gia gliom nfiy con chtfa ro. X£t
nghiem mo benh hoc cho thay vo sinh cfic ldp trong cua
vong mac. Tinh chat di truyen lep gdn lien vdi gidi tinh
va su tri cham tam than 0 nhting ngudi khac trong gia
dinh cho phep loai trti chan doan u ac tinh vong mac.

512. NOTHNAGEL (Hoi chting)

La hoi chting than kinh phoi hop liet cuc bo day thin
kinh van nhan chung (III) d ca 2 mfit vdi hoi chting tieu
nao mat dieu hoa cheo (syndrome cer^belleux ataxique
croise). Tap hop trieu chting nay tuong ting vdi ton thudng
ciia nhan do va nhat la cua cuong tieu nao tren, bao gom
ca nhting sdi bd van nhan.

513. NOUGARET (Quang ga)

Chting quang ga Nougaret tuong ting vdi hoi chting
quang ga bam sinh tu phat di truyln theo kieu troi. Thuc
ra trong y van, cay pha he lau ddi nhat va phong phu nhat
la ciia gia dinh Jean Nougaret sinh nfim 1937. Cfiy pha he
gia dinh nay d m iln Nam ntidc Phap hi£n nay gom 10 den

272
11 the he; day la mot mau hoan chinh ve di truyen theo
kieu troi kinh dien.
Kham nhufng benh nhan nay thay day mat hoan toan
binh thucfng v& chUc nang thj giac nhin sdng binh thuong
cung nhu sdc gidc.
Quang ga la trieu chUng duy nhat duoc cu the hoa day
du bang xet nghiem thich nghi, cho thay dudng ghi cf cao
va mQt pha, khong co diem anpha. Dien vong mac do co
s6ng bj nhung khong co song b2 trong toi. Dien nao do
binh thudng trong chUng qudng ga vo can troi Nougaret.

o
514. ODD
(Xem MEYER - SCHWICKERATH)

515. OGLE
(Xem CLAUDE BERNARD - HORNER)

516. OGUCHI (B#nh)

Benh Oguchi (1907) la mot the rat dac biet cua chiifng
quang ga b£m sinh on dinh co kem theo bien doi d day
mdt.
Nfi'u nhurng trudng hop ddu tien duoc mo td d Nhat Bdn
thi d chfiu Au cung da c6 nhieu trudng hop duoc bdo cdo
va nghidn cUu ky ludng. Nhu vay thi c6 the khong phdi

273
chi rieng giong ngudi Nhat Ban mdi bi cai benh ky quai
nay Benh di truyen theo kieu lep autosom vd thudng thdy
bo me cung huyet thdng. Ca nam lan ntf deu bi bfnh.
Q u an g ga la trieu chUng chu yeu va thudng rdt ndng,
dudng ghi thich nghi cao, khong cd diem anpha; dudng ghi
keo dai trong nhieu gid cho phep cd duoc sir tien b$ din
cua ngudng sdng cuoi cung, nhung tuy vay van cao hon
mUc binh thudng.

Thi luc chd sdng binh thudng, sdc gidc vd dudng ghi thj
trudng cung binh thudng mdc dau dudng dong cam b| co
hep khi do thi trudng mau. Dien vdng mac do cd ddc diem
la song bj van nguyen ven (sang) va b2 thi khong co (toi)

Soi day mdt thudng thay khd ddc biet neu benh nhan
nhin sang mot chap lau: thudng ta thay cd anh trdng -
xam nhat, ro d cuc sau, d gai thi vd hoang diem Mau
trdng - xam nhat nay tao ra nhUng anh lap ldnh Trong
nhUng trudng hop khdc, mdu hoi vang hoac vang ong. va
cd the khu tru d vung chu bien vdng mac. Sau mot thdi
gian quan sat ddy mdt khdc nhau, tU nhieu phut den nhieu
gid, ta thay mdu xam - trdng nhat cua ddy mdt bien di
(hien tuong Mizuo, 1914), vdng mac lai trd lai binh thudng
Xet nghiem mo hoc cho thay te bao non nhieu hon han.
dac biet la d vung thdi duong. Nguqc lai, te bao gay hiem
hodc khong cd.

Ngudi ta cd md ta mot thtf md vd dinh hinh (un tissu

- amorphe) cd nhieu sdc to, ndm gitfa ldp te bao non va
noi md sdc to. Tuy nhien, nguon goc thuc su cua mau sdc
ddy mdt vd cua ban chat benh ndy cdn chua hieu biet ro
rang.

274
 517. OLLIER (Benh)
Loan sinh sun hay lac vi sun (chondrodysplasie,
chondrectopie) la nhting dam sun tang sinh thoat khoi sir
cot hoa. Nhting dam sun nay thirdng cr cac xirang dai cua
chi, nhirng cung co d xirang so, dac biet la d xirang biram
Thong thirdng nhting not sun nay rat ro d tren phim X
quang va khong tien trien, nhirng cung co khi chung ldn
ddn vd tao ra nhting loi xirang (exostose). Nielson(1914) co
bdo cdo m ot trudng hap teo thi than kinh vdi liet van
nhan d ca 2 mat do ton thirang d dinh hoc mdt, a ong thi
va khe birdm.

Duke - Elder ke rdng Collier (1961) c6 neu len trudng

hop phoi hop mot benh Oilier vdi sdc td tu tap or vong
mac.

H<?i chting Maffucci Id mpt loan dirdng sun Oilier cd

phinh gian tinh mach nhd (u mach hang vd phinh gian
tinh mach), vd cung cd trtiorng hop phu gai thi do tdng dp
ltic nQi so.

518. OI>ITZ

(Xem SMITH - LEMLI - OPITZ)

519. OPPENHEIM (Liet nhin)

Ld mot th i loai li<?t nhin sang ben (Oppenheim, 1923,

do Kestenbaum ke). Tuy cd sir phdn ly cua liet nhin, nhung
vdn tdn tai nhting d0ng tdc phan xa tu d0ng xuat phdt tti
tiln dinh, trong khi dd thi nhting dpng tdc xud't phdt tti
mdt lai bi tri^t ti§u.

275
 520. OPPENHEIM (Dau hi?u)
Dau hieu nay bieu thi sU mat cam gidc gidc mac sdm,
doi khi la trieu chufng ddu tien cua mQt khdi u a gdc ciu
- tieu nao.

521. O R Z A L E S I (Loan dirdng gidc mac)

Loan dirdng gidc mac do Orzalesi m6 td (1947) Id mQt

thodi hda md d ngudi tre, di truy§n vd gia dinh. Trang
thdi lam sang Id mot dam md due khu tru d giflra trung
tam gidc mac; ddm md due gom nhiirng chd'm nho mdu xdm,
khong deu ddn, cd tinh chat md.

522. O SLER

(Xem RENDU - OSLER)

523. O SLE R

(Xem JACCOUD - OSLER)

524. O TA (Novi)

Novi Ota (noevus d’Ota) con duoc biet dudi cai ten 'ncevus
fusco - coeruleus mdt - ham" Id mot sU thodi hda sdc td bao
bam sinh (melanocytose) d ldp da quanh m^t v& ldp vo
nhan cau.

Not ruoi d da theo dinh khu cua day thdn kinh sinh ba
no thudng xay ra a mot mdt khu tru d da mi viing quanh
ho mdt, it khi d vung nua mat, tai vd niem mac hong Ddy
la mot benh hdc to tan man cd hdc to bdo (melanocytel
giong nhu hdc to bao trong mang bo dao.

276
 Hdc to a da nhieu hoac ft, c6 the tirng d,1m, doi khi
inau luc nhat.
Nhan cdu cung ben ay cung bj, thudng la n h iim sdc to
d ket mac, cung mac. M o n g m at tang sdc to', mau sam. rat
nau va cac khe hoc (crypte) co ve nhu phi dai ra.
Su tham nhap sSc to con dien ra d cdc ldp m ang sau
la hdc vong mac, va ngudi ta da thay c6 hdc to gai thj.
Tinh trang sdc t o ' d da - mdt co nguon gdc bam sinh va
thay noi len yeu to' chung toe (facteur racial); su thuc la
thay xay ra nhieu d giong ngudi da vang va da den. Tuy
nhien, ngtidi ta cung co n6i den nhUng trudng hop benh d
ngudi da trdng. Novi Ota xay ra d ca hai gidi nam nU vdi
tan so bdng nhau. Sdc to d da xuat hien tU luc tuoi thieu
nien va thanh nien, suot ddi khong tang them ntfa. Tuy nhien
n6 c6 the trd thanh ac tinh, nhung cung rat han hOfu.

525. OURGAUD
(Xem JAYLE - OURGAUD)

526. PAGET (Benh xuong)

Benh xuong Paget (1877) duoc tdc gia mo ta dudi cai
ten viem xuong bien dang (osteite d^formante) gay ton hai
d xuong mot cdch cham vd tudn tien; mot so xtiong co the
phi dai ra, d6ng thdi cd nhtfng sti bien doi ldn ve cau true

277
nhu mat calci; va sau do tai tao mot cdch Ion xpn vk xuong
dam dac lai.
Benh chi xay ra cr ngudi da cd tuoi vd ngudi gi&; nam
gidi hay bi hern. Can nguyen hodn todn chua biet, vk khong
thay co mot yeu to gia dinh hay di truyen ndo. Nhting
xuong hay bi nhat la xuong chau, chi dudi, xuong chiy,
xuong dui, vd cdc xuong chi tren. Xuong so cung bi. Bgnh c6
xu the lan rong rat cham vd rat tuan tu trong to&n thdn.

Bieu hien o m it kha hiem. Tdn thuong d xuong so vk

khdi xuong mat co the gay h&u qua cho hdc m it vk dng
thi, tU do doi khi d in den ldi nhan ciu \k teo thi thdn
kinh nhieu hodc ft.

Liet van nhan co duoc neu len. Mdi day nhat, ngUOi ta
de cap den kha nang xay ra nhUng ke van mao mach d
day m i t benh nhan viem xuong Paget. NgUcfc lai, nhting
thodi hoa hoang diem, nhUng xo cUng hie - vong mac Id
do tuoi cao cua cac benh nhan, la nhUng nguoi hay bi xo
cUng dong mach va benh or m ach mdu.

527. P A L T A U F - S T E R N B E R G

(Xem HODGKIN)

528. P A N C O A ST - T O B IA S (Hoi chting)

Hoi chting Pancoast - Tobias (1932) bieu hien su chen

ep cac co cau giai phdu cua horn tren don do xam lan ung
thu (ung thu dinh phoi). Ben canh liet vk dau nhtic cua
dam roi than kinh canh tay, doi khi con cd them hoi chting
Claude Bernard - Horner do tdn thuong giao cam.

278
 529. P A R IN A U D ( V i e m k e t m a c )

V i e m k e t m a c P a r i n a u d ( 1 8 8 9 ) t a o r a m o t h o i ch u fn g
t h u c t h u a m a t va h a c h . C o d a c d i e m la t h u d n g a m o t
m S t ; x u i k e t m a c , m i d a y v a h a c h triT dc tai.

- Ve nguyen tdc thi khu tru d mi va ket mac cua mot

mat; mi tren va mi dudi phu ne; ket mac, nhat la ket mac
mi, cd phan dng k h o n g co dinh, co the hot hoac sui. Trieu
churng co nang kha kin dao.

- Hach khu tru d tai chd, xuat hien ngay td khi bi viem
k et mac, va cd the gay sung phong, thdy ro d trUdc tai.

Tien trien cua viem ket mac cd hach ndy, sau vai tuan
se khdi, khong de lai di churng d gidc mac hoac noi khac.

B£nh xdy ra d tre em hoac ngudi tre. Ngay td diu,

Parinaud da neu len ngudn gdc sue vat. Tuy nhien, can
phdi hiiu hQi chdng Parinaud la bao gdm cdc viem ket
mac d mQt mdt cd phan ting hach ma nguon goc khong co'
dinh, cd the la b$nh do mdng mfco cdo, benh Nicolas -
Favre, benh tularemia (tularemie), b#nh vi§m ket mac
Newcastle vd cdc bfnh nd'm.

Trong nhiiu trudng hop, cdn nguygn cua b§nh nhiim

,T ■ ; •/ ,
khudn ndy cdn chi/a xdc dinh dtfoc.

530. PARINAUD (Ung thu bieu mo da)

U ket mac duoc Parinaud xdc dinh nam 1884 dudi cdi
ten u ung thu bieu mo - da Id mot loai u vtia bieu mo vtia
novi. Ttf chtic tdn tao ndy gim nhiiu u nang noi bieu rao
phdt trien tren mQt co sd gdm todn t£ bdo.

279
 U Parinaud thudng phat sinh 0 ngtfdi tre vd gh£p them
v a o m o t n o t ru6i ket mac d a co san. Vi tri 6 ket mac nhan
c£u, ngay khe mi vk thtfdng o phia thai duong. Soi dfcn
khe thay co nhieu u nang md due trong mQt mo mdu hdng
ho&c hoi co s£c to.
U 16nh vk lan cham theo be mat. Dieu tri tfl't nhd't Id
cdt bo u, cho thay ro cau tao h6n hop bieu md vk ntfvi, vd
ludn luon c6 nhtfng cd'u tao nang u bilu md (J.Richard).

531. PARINAUD (Hoi chtfng)

Hpi chtfng Parinaud (1883) Id liet dong tdc nhin ldn

x u o n g , c o t o n thuong quy tu trong mot ntfa so trtfdng hop.

T r ie u chtfng gom c6 trtfdc het 16 ton hai dong tdc nhin

le n x u o n g , liet co the to6n bo (dong tdc theo y muon v6
dong tac phdn xa ttf dong) hodc phan ly (chi li#t dong tdc
theo y muon thoi).

Thtfdng thi dQng tdc nhin len khong thtfc hien dtfgc, it
khi liet ca nhin len vd nhin xuong hodc chi liet nhin xud'ng
thoi.

Ton hai todn bp dQng tdc nhin len xud'ng, gom ca dong
tdc theo y muon vd dong tdc phan xa xudt phdt ttf thi gidc,
m^t - dau, tien dinh.v.v... bieu hien ton thtfong a cu nao
sinh to sau, ngang m ep tr&ng sau, ttfc Id cr trung tam phong
dinh la cua stf nhin len xuong.

Ngoai liet nhin len xuong, cdn co the thay nhtfng trieu
chtfng khac to ra ton thtfong da lan rong nhtf:

- Liet quy tu, thuQC hoi chtfng Parinaud thtfc thu, gay
ra song thi khi nhin gan;

280
 - Liet it hoac hoan toan day thSn kinh van nhan chung
(III);
- Cac dau hieu a dong tiif, doi khi co dau hieu Argyll -
Robertson;
- Co rut mi tren.
Hoi chting W eber, Benedikt co the phoi hcfp vdi hoi
chting Parinaud vi gan cac nhan cua day than kinh III,
gan nhan do va cdc duOng dai cam giac - van dong di qua
than nao.

532. P A R K E R - W E B E R

(Xem KLIPPEL - TRENAUNAY)

533. PARKINSON (Benh)

Btipc mo ta M m 1877 dudi cdi ten liet rung (paralysie

agitante). Chung tdi khong can nhan manh ve trieu chting
hoc cua b£nh md ta cung biet Id duoc tao thdnh bdi sir
cting dd ngoai thdp (rigidity extra - piramidale) va rung.
Gay ra b£nh Id do ton thtiOng thodi hda cdc nhan xdm
trung tam, ddc bi§t la d cau nhat (globus pallidus). Benh
xay ra chu yeu d ngudi gid.
v
Ve mat lam sdng, cdn phdi gdn vdo benh ndy hoi chting
Parkinson sau viem nao trong benh Von Economo xdy ra
trong dai chien the gidi lan thti nhat. Cdc benh dich vd
truyen nhiim ndy la do mot loai virus tham nhap vdo bdng
dtidng mui - hong.
Trieu chting d mdt rat phong phu; ve than kinh - mdt
thi chu yeu la trieu chting cua viem nao Von Economo. 0
thdi ky cd'p tinh, cd li#t mdt du cac the nhu lift than day

281
thdn kinh do nguon goc trung tfOng co ca ton hai van nhan
noi tai. Cac dtfdng thi gidc, dac biet la thi than kinh cd
the tham gia vao qua trinh viem.
Trieu chtfng m it d giai doan man tinh tao ra trang thai
di chtfng rat dac trtfng; day la mQt hoi chtfng cham van
dong (bradycinesie) c6 co ctfng d mdt, m it nhin thing c6
dinh, ctfdng ndng dieu tiet, dong ttf khong can xtfng va
phdn tfng ctfdng co dong ttf. Nhtfng con xoay m it (crises
oculogyres) xen ke vdi co ctfng mi, lam cho benh nhan c<5
nhtfng luc nhin thing tran tran (acc&s de fixity du regard)
hoac nhan cau xoay ngtfoc l§n tr§n.

534. P A R R Y

(Xem ROMBERG)

535. P A S C H E F F

Viem ket mac kieu P ascheff (1916) la m ot viem ket mac

nhiem khuan cap tinh, gay ra nhtfng o mu va hoai tiif.
Phan tfng hach trtfdc tai manh. V iec xac dinh yeu to gay
benh dac hieu con chtfa ro. Duke Elder goi y kha nang do
benh tularemia.

536. P A S S O W (Hoi chtfng)

Hoi chtfng Passow (1933 - 1935), thtfdng dtfgc biet dtfdi

cai ten roi loan tao dtfdng dan (status dysraphicus) (Bre­
mer, 1926 - 1927) la do mot stf di thtfdng trong viec dong
dng than kinh. Benh rdng tuy song (syringomyelie) la mot
trong cac bieu hien lam sang. Chung toi khong muon nhan
manh ve nhieu thtf di dang d cgt sdng, long nguc cua mQt
hoi chtfng nhtf the nay. Passow da mo ti thfit hoan chinh

282
n h u n g b ie u h i e n a m d t d o n g u o n g o c g ia o c a m n h tf d i s d c
m o n g m d t k ie u F u c h s v a h o i c h u fn g C la u d e B e r n a r d -
H o r n e r . L ie t d a y t h a n k i n h V I. V I I c o t h e x a y ra. T r o n g
k h u o n k h o h o i c h t fn g to r o n g n a y , c o c h u fn g t e o m o t b e n
m a t R o m b e r g v a m o t s o di d a n g r o i l o a n x tfd n g s o c o a n h
h tfd n g d e n m d t .

5 3 7 . PATAU ( H o i c h t fn g )

H o i c h t fn g d o P a t a u m o ta ( 1 9 6 1 ) , t h e h i e n s a i la c t h e
n h i i m s d c : b a t h e n h i e m s d c 1 7 - 1 8 , c h u y e n vi n h o m 1 6
- 1 7 - 1 8 (E ) l e n n h o m 1 3 - 1 5 (D ).

H<?i chtfng tao ra mot tap hop gom nhieu di dang rat
khdc nhau nhtf dinh ngdn, ctfdng trtfcfng ltfc, suy sup tam
than, di dang tim. C o nhieu di dang d mdt nhtf vo sinh
ham dtfdi, di dang tai, khoang cach 2 m it qua xa; co ngin.
Trong cdc tdn hai d m it, ngtfdi ta ndi den kha ndng bi
glocom bam sinh, gidc mac md due vd teo thi than kinh.
Hoi chtfng hay thd'y xay ra 6 tre em gdi.

538. P A T A U

(Xem SMITH - PATAU)

539. P A T O N (Dtfdng)

Dtfdi cdi ten ndy (Paton, 1911), ta nen hieu day Id trang
thdi cd nhtfng nep gap vong mac hinh vong cung, xoay
quanh gai thi va vung ke can, do tf phu gdy ra.

540. P E IP E R (Phan xa)

Phan xa thi giac Peiper xay ra d tre so sinh, khi ta

chieu sdng th in g vao mat thi dtfa be nga dau ra sau dong

283
than ngudi iron cong (opisthotonos). Phan xa thdy d tre 80
sinh ngay tu ngay thuf 8 den ng&y thiir 15 (Esente).

541. PEL (H oi chiifng)

Ten goi nhufng con xay ra r it han htfu a m it trong b$nh

Tabet, gay dau nhtic duf doi 0 the mi, cd c i so < nh sing;
chay nude m i t va co ciing mi.

542. P E L IZ A E U S - M E R Z B A C H E R (B#nh)

Benh Pelizaeus (1885) vk Merzbacher (1910) n&m

trong khuon khd ddc tinh benh hoc cua nhdng loan dirdng
c h it tr in g nao gia dinh vk tuin ti^n (Van Bogaert vft
N yssen). B e n h ga y ra su huy hoai myelin cua chat trin g
nao, cua tieu nao, than nao va tuy song, song v i n cdn
rai ra c myelin.

Trieu chiing xuat hien ngay tir nhufng thing dau cua
dufa tre, r6i nhanh chong nang len cho den siu tuoi, va tu
do benh tien trien cham hon hoic ngirng lai.

Trieu chufng co dac diem la lift cufng tiif chi vdi mat
dieu hoa, mua vOn, run van dong hufu y (tremblement
intentionnel), rung dau va ting phan xa. Co the co tn tre
i -■

tri tue va nhiet do cao do nguon goc trung tfdng. 0 mat.

thudng co rung giat nhan cau v& teo thi than kinh nhieu
hoac it, d in den mu.

NgUdi ta cd noi den sU pho'i hop benh Pelizaeus -

Merzbacher vdi chiing lun co thodi hoa sic to vong mac

Benh n iy cd the di truyln theo kieu lep gin liln vdi

gidi tinh.

284
 543. P EL LIZI (Hoi chung)
Hoi chufng Pellizi hay hoi chting day thi sdm co ^inh
due tao phdt (m acrogenitosom ie) la do u thuong than, u
buong trting hoac u tuyen tung. Ca quan sinh due ben ngoai
phdt trien sdm.

Trieu chting gom co ram long, phat trien bat binh

thudng he thong long, bien ddi giong noi va phat trien
vu; day thi sdm Than the va ccf ldn nhanh qud mtic. Neu
la u tuyen tung thi se xuat hien cdc trieu chting tieu nao
- tien dinh, phu gai thi, nhat la co hoi chting Parinaud
(lift nhin l§n xuong) va cd ddu hieu Argyll - Robertson;
nS'u dtipc dilu tri sdm thi nhting trieu chting ndy cd the
mat; sti liet nhin len xuong c6 the phuc hoi lam 2 thi, mdi
ddu la phuc hoi cac dong tac tti dong, sau do Id ckc dong
tdc theo y muon.

544. PETERS (Hoi chting)

Do Peters mo td (1906), di dang ndy dtidc dac trting bdi

seo due bdm sinh gidc mac d ca 2 mdt, gitia trung tam va
nha't Id d ckc ldp sau. Phoi hop vdi vdng dinh mong mdt
ra phia trtidc. Khong cd mang Descemet va noi bi d vung
due gikc mac va seo dinh la mQt hien ttfong dac trting.
Nhieu di dang khdc d mdt duoc neu len nhu luu tdn mang
ddng tti, lac mdt, rung giat nhan cdu, mdt b£, glocom bdm
sinh va due the thuy tinh bam sinh d ctic trtidc.

Nhting bieu hien ngoai mdt thtidng cd nhti tri tre tam than
- van dong, tran dich nao hodc ddu nhd, stit moi, di dang tim
vk ong tieu hda. Di nhien la hQi chting se ddn den tinh

285
t r a n g g a n n h t f mu d o nhtfQc thi sau khong the phuc hli
dtfac.
Can nguyen sinh benh cua tap hop da di dang nay hdy
con kha bi an. N h ilu gia thuyet da dtfgc dl xuat. C6 vi
nhtf day la mot loan san phoi c£c nhin 16 trung bi cua
t i l n phong ma nguon goc rat khdc nhau nhtf do vi#m m&ng
b6 dao phoi phai, thieu vitamin, nhiim d$c hoSc tia xa
khi con trong tuf cung, xua't huylt trong thai ngh£n,v.v...
Trong mot so trtfdng hop, ngtfdi ta n6 u l£n y£u 16 di truyln
hoac do sai lac the nhiim sic.

545. PEUTZ - TOURAINE (HqI chtfng)

Hoi chtfng Peutz (1921) va Touraine (1945), con goi la

hoi chtfng Peutz - Jeghers (1949), xuat hien trong tuoi tho
au va di truyen theo kieu troi autosom deu dan. Tri?u
chtfng gom co:

1. Sac to' da quanh cac 16 (periorificiel) gom nhieu

cham nho nhtf tan nhang mau ca phe stfa. Sac to nay chu
yeu co nhieu d khdp noi da - niem mac, quanh mi mit,
quanh mieng va 16 mui. Cha'm sic to c6 the d ket mac va
niem mac mieng. B6ng thcfi cung tap hop nhieu a vung
quanh ron va hau m6n - ruot thing.

2. Polyp rupt, nhat la rupt thing - ket (rectocolique),

it khi d da day va mui - hong. Ttf dd, gay ra nhtfng bien
chtfng nhtf suy mdn va thieu mau. Doi khi phiu thuat mo
bung ra mdi chan doan dtfgc benh.

546. PFAUNDLER (VON)

(Xem HURLER)

2 86
 547. P F E I F F E R (Viem ket mac)

Day la loai viem ket mac cr tre tho, rat hay lay, tien
trien cap tinh va xay ra sau khi bi cum. Benh khoi sau
dSm ba ngay.
Xet nghiem chat tiet rti cho thay co cau - true khuan hinh
thoi tir 2 den 0,5 micron or gitia co khoang sang. True khuan
Grain (-), chung vao chuot lang duong tinh.

548. P IC K (Benh)

La mot the loai sa sut tri tue trutic tuoi gia, tu^n tien
gay ra trang thai hting phan lin 10n hoac tram cam
(depression). C6 ao thi. Benh cd ve do so co rut cua hoi
nao ro nhat la d cac thuy tran va thai duong.
Mat nhan thtic thi giac (agnosie visuelle) va mu dan
din kha hay gap. Ton hai d chdm se gay ra ban manh
ben, dong danh va mu.

549. PICK (Dau hieu)

Da'u hieu Pick (1886) bieu hien ton hai ket mac sdm va
h&ng dinh trong benh sot Papatacci d vung luu vtic Dia
Trung Hai (virus truyen bdi mu6i phlebotojne).
Sung huyet ket mac nhieu d dien hd khe mi. Thuc su
la mot dudng bdm mau chay ngang tti gdc trong den goc
ngoai mdt. Ngtidi ta cung cd noi den nhting dau hieu viem
bao Tdnon cd dau nhtic khi an vao mdt va khi van dong
nhan cdu, cd so anh sang va chay nude mdt.

550. PICK
(Xem NIEM AN N - PICK)

287
 551. PICO

(Xem FRANCESCHETTI - ZWAHLEN)

552. PIER R E M A R IE (Benh)

Mat dilu hoa tieu nao di truyen Pierre Marie (1893) chi
khac vdi benh Friedreich v£ mtfc do Benh khdi phdt v&o
khoang 30 tuoi va cd the truyen theo kilu l£p autosom.
Hoi chiing tieu nao bieu lo ro vdi dang di loang choang.
Ton thtfang bo thap bieu hi#n bdng liet co gi|t 2 chi dtfdi.
Phan xa gan, ve nguyen tdc, thi tang.

Ton thuong do tieu nao ndi len ro hon tdn thuong do

tuy gav ra: tuy nhien qua trinh ti£n tri£n cua benh thtfdng
co tinh chat tan man nhtf trong benh Friedreich. Benh
tien trien tuan ttf m<?t cach cham chap.
Tdn hai d m at cua benh mat dieu hoa di truyen ti£u
nao Pierre Marie la liet van nhan va teo thi than kinh,
rat thtfdng hay xay ra. Cung thtfdng dtfgc neu len cac
thoai hoa tapeto - vong mac kieu trung tam hoac chu
bien.

553. P IE R R E M A R IE - L E R I (Hoi chtfng)

Hoi chtfng nay ttfang tfng vdi tdc nghen dong mach nao
sau, gom cd ttfn thtfcfng ddi thi. Trieu chtfng cd:
- Liet thdng day thdn kinh III;
- Liet ntfa ngtfdi chdo;
- Ban manh ben, dong danh, d phia ben kia ton thtfang,
cd phan tfng ban thi Wernicke (reaction hemiopique de
Wernicke).

288
 554. PIERRE MARIE VA SAINTON (Hoi chufng
Loan phdt xtfcfng don - so hay hoi chtfng Scheutauer
(1871) con cd ten la hoi chtfng Pierre Marie va Sainton
(1897). Loan dang nay di truyln theo kieu troi autosom,
co dSc diem la:

1. Loan xtfcfng so, d l u n g l n hoac d lu hep, c6 loi xtfang

dinh, ltfu tdn thdp den tuoi ngtfcJi ldn. Cd ca di dang khdi
xtfcfng mdt, nhtftfc san xtfong ham, di dang rang, tfdn mui
vd bep xtfcfng go md.

2. Vo sinh xtfcfng d on: d mot ben hoac ca hai ben.

Hai vai cd the bi ldi v&o phia ngtfc, vd ddi khi tham
chi' giap vao nhau.

3. Thtfdng p h o i hqfp vdi nhtfng di dang khac cua he

xtfong g&y ra gii - veo ltfng, lun nhao day chang, di dang
6 coi (cotyle) vk ddi khi roi loan than kinh.

Cdc bieu hi^n d m it dtfgc neu len la loi nhan clu, di

dang khe mi gay ra m it xech ngtfgc (antimongoloide).

555. P 1LLAT (Loan dtfdng nhu md)

Loan dtfdng nhu md gidc mac Pillat (1940) g6m cd nhtfng

ttfn thtfong ch&'m nhd d gitfa vk chu bidn gidc mac, indu
xanh - xam. Tf>n hai khu trtf d phin gitfa vd sau cua nhu
md. Loai loan dtfdng gidc mac ndy da dtfgc md ta d 2 chi
em ngtfdi bfnh.

556. P IL T Z - W E ST P H A L (Hi#n ttfgng)

Hi§n ttfong Piltz - Westphal (1899) Id phan xa co ddng

ttf x ly ra khi co' tinh n h lm mi m it lai trong khi ddng thdi

289
ta ngSn can khong cho no nhim. Su ddng dong n&y
(syncinesie) giufa c0 vong mi (orbiculaire) va dong tii khong
phai 0 ngtfOi nao cung co, ma chi co 0 1/3 so ngtfdi

557. P LU M M E R - V IS O N (Hpi chiing)

Hpi chiing Plummer (1912) v i Vinson (1922) chu ylii xiy
ra d phu nii vi hiem c6 d Phip. Trieu chiing gdm chu y£u
m$t viem thuc quin, tCmg luc nufft kh6 , tilTn triln timg ccm.
Thieu miu giam sic di kfcm vdi hpi chiing thuc quan.
Sau cung li c6 thi xay ra nhurng roi loan cua hi#n bo
(troubles des phanferes) nhu d ring, mdng tay, chin vi kh6
migng, kh6 ni§m mac d m6t mtfc n io d6 Phtftmg phip
dieu trj tot nhat la chat sat vdi lieu cao.

Bieu hien d m it la viem bd mi - ket mac, doi khi viem

giac mac giong nhu trong hQi chiing Goujerot - Sjogren.
Cung co noi den chiing quing gi

558. PO M PE (Benh)
Benh Pompe (1933) la mot benh tich glycogen tan man,
chu yeu la d tim, va do suy giam enzym ma tao ra mot
benh tich lipid mo ludi v i glycogen trong mo. Benh roi
loan chuyen hoa o tre em nay, chu yeu gay chiing tim dap
nhanh, tim to va cac dau hieu suy tim, nhanh chong gay
tir vong sau vai ba nam. Co roi loan tieu hoa, giam trtfong
ltfc co. doi khi co ltfdi to (macroglossie). Xet nghiem mo
benh hoc cho thay glycogen tham nhap vio co mong m it
va co van nhan, vio noi mo giac mac v i v io cac te b io
hach vong mac.

290
 559. POPEK (Hoi chufng)

Hoi chting can mach canh Popek (1934) la do ton thucfng

cdc nh£nh giao cam quanh mach canh, or ngay ca trong
ong canh
Ton thtfcfng giao cam or do tao ra hoi chting Claude
Bernard - Horner. Hoi chting Popk gap khi gay cat ngang
xtfcfng da hoac khi viem mang xtfcfng ben trong xtfcfng da.
Trong trtfcfng hop do, day thdn kinh sinh ba khong bi ton
thtfcfng, cho nen khong bi dau nhtfc, va cam giac giac mac
vin binh thtfdng.

560. P O R A K - D U R A N TE

(xem LOBSTEIN)

561. PO SN E R - SC H L O S S M A N N (Hoi chting)

H6i chting Posner vd Schlossmann (1947) hay Id con

glocom th i mi tao ra m6t th i loai ting nhan dp kich phat
rd't dfic bift.
Trieu chting thtfdng d mot mdt, luon luon xdy ra d mQt
m^t dy; ve nguyen tic , benh xay ra d ngudi tre tuoi.
Nhan dp cao, tti 40 den 60 mraHg, tting con, thi luc v in
t6't. M it trdng, d6i khi chi c<5 mQt chut phan ting the’ mi
nhe. TriSu chting co ndng rift it di, vd benh nhan thtic te
Id khong cam thay dau nhtic. Soi den khe thay cham tua
d mat sau giac mac, cham mdu trdng va tron. Nhting chdm
tua ndy khong nhilu vd sau khi nhan dp trd lai binh
thudng thi vdn cdn ton tai it ngay.

Nhting con ddu tien triln thudn loi, vd nhan dp binh

thudng sau 2 - 3 tuan. Ve nguyen tdc, hoi chting Posner

291
va Schlossmann khong tid'n trien dd'n tdng nhan dp man
tinh va tien ltfgng vin tot. Tuy nhien, ngtfdi ta cung da
c6 neu len nhufng the b#nh chuyen sang man tinh, cung
nhtf tien tdi cd di sic mong m it Fuchs.
Tdc dung didu tri ngoan muc cua cortison tai chd ciing
nhu cua cdc chat tic chd' anhydraza carbonic ldm cho ngtfdi
ta nghl tdi ngudn goc di ting cua nhting ctfn glocom th£ mi
ndy.

562. P O T TE R (H$i chting)

Vd sinh th$n cd hai bdn vdi cdc di dang d mdt, 2 mit

xa nhau, nep gifp quat d gdc trong mi, di dang tai, c0t
song, bo phan sinh due va phoi (Potter, 1946).

563. POU RFOUR DU P E T IT (Hpi chting)

Giufa nhufng ndm 1712 vd 1727, Pourfour du Petit cd

lam thtfc nghiem d tren day than kinh giao cam co Ngay
nay, ngtfdi ta lay ten ong de dSt cho hoi chtfng t&ng htfng
phan giao cam, vdi cac trieu chtfng ngtfoc lai vdi dau hieu
Claude Bernard - Horner, nghla la co loi nhan cau, gian
dong ttf va md rong khe mi.

564. P R IN G L E

(Xem BOURNEVILLE)

565. P R O W A ZE K (VON) - H A L B E R S T A E D T E R

(Tieu the)
Dtfgc Prowazek vd Halberstaedter phat hien ra ndm
1907, nhting tieu the nay, dtfdi kinh hien vi. Id mot trong
cdc trang thdi cua cdc nhan to' gay benh m it h0t. Thtfc td'

292
Id nhufng tieu the vui trong te bao ndy c6 d benh mat hot
tu nhien va thuc nghiem, va trong cdc benh viem ket mac
co the vui. Cdc the vui bieu mo Prowazek vd Halberstaedter
bit mau tot vdi nhuom Giemsa vd May - Grunwald -
Giemsa, dudi dang nhurng hat mau do nhat. Cdc tieu the
nguyen the (corpuscules el^mentaires) cd dudng kinh 0,25
micron.

566. P U R T S C H E R (Hoi chdng)

Hpi chdng Purtscher (1910) hay Id benh mach vong mac

sau chan thucmg ttfcmg dng vdi roi loan d day mdt khi bi
chin thtidng xa mdt.

B<jnh cdnh ldm sdng thudng cd sut thi life nghiem trong
d 2 mdt, xufi't hi#n sau vdi ba gid cho den ba ngdy tuy theo
loai chdn thucfng (d& vdo lfing ngtfc, gay xuong so, chd'n
thucmg nhilu ntfi,v.v...).

Soi ddy mdt thfiy nhurng dfiu hi$u ddc bi§t, chu yeu Id
phd vdng mac mdu xdm nhat, tdn man, phu nhilu quanh
gai thi vd d ctfc sau. Nhiiu ddm trdn dich ri nhd mdu trdng,
tu t§p lai d vdng mac, ddi khi nhtf nhtfng vdng hoa Id, cd
viin, d canh cdc tinh mach. Cd cd xudt huyet vdng mac
vd trUdc vdng mac, thfiy dtfgc qua cdc ddm dich ri.

Nhtfng ddm dich ri trdng vd cdc cho xufi't huyet cd th i

biin ddn sau vdi ba tufin md khdng d i lai v it tich gi v i
thtfc th i cGng nhtf v i chtfc ndng. Tuy vfiy, ddi khi tiin
triin cung ndng, ldm cho mdt gdn nhtf mtl vdi stf xudt hi§n
sdc td' quanh hodng diim , teo gai thi nhe hodc ndng, vong
mac mdu den (di chtfng).

293
 Sinh benh hoc cua hoi churng chan dong vong mac tCr
xa nay chSc chan la do roi loan mach mau. do benh mach.
Nhieu cSn nguyen co the gay ra hpi churng Purtscher nhu
hoi churng vui lap (crush syndrom) vdi tang cao huy§t ap
tinh mach d vung dlu va nhat la nghen mach vong mac
do md la trang thai hifn dai cua loai b?nh nay. Trong
trudng hdp sau, cac trudng hdp dich ri va xuat huy£t d
vdng mac xuat hi£n trong tti 1 den 3 ngay sau gay d than
xUdng dai nhu xUdng diii, xtfdng chay. Di theo b$nh hai d
vong mac cdn c6 sdc vdi khd thd, tim tai va h§i chting
xu£ft huyet da - ni§m mac. Tang lipid trong m4u va ntidc
tieu cho ph6p xac dinh c h in doan t i c nghen do m d, va ddi
hoi phai to chtfc h6i stfc cap ctiu dac hieu

567. P Y L E (B?nh)

Loan san xtfdng so - hanh xtfdng Pyle (1931) 'dysplasie

cranio - metaphysaire) la mot benh thuoc ve the chat, kieu
gen, truyen theo phtfdng thtfc troi autosom vdi do tham
nhap k£m.
Trieu chting gom cd di dang so - mat vdi tran rong, g6
va day xtfdng nen so, co the gay chen ep vao cac day than
kinh so nao. C6 ndi den ca tat 2 mat xa nhau (hy-
pert^lorisme).
Mat khac, X quang cho thay nhtfng bien doi a cac xirang
dai, rong than xtfang va mong ldp vo hanh xtfdng Chup
X quang xtfdng so thay dam dac xirang so va xtfang mat.

294
 Q

568. Q U IN C K E (Phu)

Phu dj ting kich phdt Quincke (1882) Id mot bieu hien

kinh dien cua dj ting mac ddu ngudi ta cong nhan quan
diem do dja trang di truyln; vai trd cua tdng cam (hy-
persensibilite) thudng it duoc biet ro.

Nhting con phu kich phdt, xudt hi?n dot ngot vd cung
rut lui nhanh thudng thay ro d mdt, doi khi xdy ra do mot
di ting nguyen v l thtic dn, v l vi khuln hodc d§c td'. Kfem
theo nd cdn cd ca loat nhting bieu hi§n di ting khdc nhti
eczema, mdy day, so mui, hen xuyen.v.v... Phu Quincke
thudng cd cd d mi m it vd gay phong mong ket mac it hodc
nhilu.

Trong m§t so' trudng hop, cd cd loi m it kich phdt tam

thdi kfem theo phu da. Cung trong dang ndy, ta phdi ke
din nhting bilu hifn tdng nhan dp xdy ra trong qud trinh
tiln triln cua hoi chting phu ndi nhan kich phdt. Ngtidi
ta cdn n£u len li$t vdn nhan nhe vd cdc tdn thuong vdng
mac nhti phd vd chdy mdu d ddy m it.

295
 R

569. RADOVICI - LASCO

(Xem DENNY - BROWN)

570. RAEDER (HQi chting)

Hpi chting li#t giao cdm can thdn kinh sinh ba hay h$i
chting c$n thdn kinh sinh ba Raeder (1918 vd 1921) hodn
todn giong h$i chting Jefferson (1938) vd hQi chting 16 rdch
trudc Paul v& Ilinca Bonnet (1953)

Nhting lien quan giai phdu chat che noi lien day than
kinh giao cam vdi phdn sau cua khoang hang, vdi dgng
mach canh trong, vdi hach Gasser vd day than kinh VI
lam sdng to trieu chting hoc ciia hoi chting nay ma ve giri
tri dinh khu thi khong con phai ban cai ntia

Thuc te thi hoi chting can thdn kinh sinh ba Raeder, d

the thuan tuy nhat, cd nhting dac diem la:

- Liet day than kinh van nhan phia ngoai (VI) Id trieu
chting khdi thuy;

- Liet tuan tien day than kinh sinh ba theo thti tu:
nhanh mat, nhdnh ham tren va ham dudi vdi nhanh van
dong;

- Hoi chting Claude Bernard - Horner: hoac chi cd dong

tti giao cam thoi, hoac ca hoi chting hodn chinh Doi khi

296
cac roi loan van mach noi hiin Ipii trong benh canh lain
sang.
Ton thuong gay benh cang nang them thi hoi chting
Raeder lai them bien chting liet day than kinh IV va III
Gay ra hoi chting can than kinh sinh ba, chu yeu la cac
phinh dong mach canh trong, cAc tdn thucfng sang chan a
mom xuong da va xuang u tti mui - hong lan toi.

571. R AYLE IG H (PhUcfng trinh)

Phuang trinh Rayleigh dac trUng cho nhting pha tron

de so mau khi danh gia sac giac bang may anomaloscope:
nhan thtic ve so mau gitia mau vang natri (589mp) vdi h6n
hgp mau d6 lithi (660 mu) va mau luc thali (535 mp).
Phuang trinh Rayleigh doc ngay tren mat trong c6 chia
dQ cua may do s&c giac, R + V = J, (d6 + luc = vang).
MQt nguai binh thudng (thuang so' Rayleigh = 1) se ddi
lfip ching han vdi tat mil mau do bat toan (protanomalie)
(di tat Hart) c6 phucfng trinh Rayleigh 0,7 va vdi tat khong
phan bi$t dugc mau luc (di tat Rayleigh) c6 phuang trinh
Rayleigh 1,3.

572. R A Y L E IG H (Di tat)

Tfit kh6ng phfin bi€t dugc mau luc (deut^ranomalie) hay

di tat "Rayleigh" la mot di tat b£m sinh ve nhan thtic ba
mau ca ban, ngudi benh c6 the nhan ro dugc c£ 3 mau ca
ban nhung trong do c6 mot mau nhan thtic sut kem.
Di tfit Rayleigh dugc dac trting bdi tdn hai thanh phan
mau luc. B?nh nhan thfiy mau luc dam qua trong phuang
trinh so m&u (xem phucfng trinh Rayleigh). Dudng bi«?u

297
Iiien d o nhav sac pho t r u n g g i a n gi Ua n g u u i m u m a u luc
i di tat Nagel i v o i n g Uo i binh thuang. Nhirng ~ai r quan
trong han khi khu test Panel L),- va Farnsworth lnO Hue
cho phep phan biet gitia dj tat Rayleigh va di tat Nagel
(tat mu mau luc).

573. R A YM O N D - C E STA N (Hoi chung)

Hoi churng thin kinh nay ciia than nao t huoc loai liet
nhin ngang (hoi chting Foville) do ton thuang phi a sau cau
nao G6m liet nhin ngang vdi liet nhe ntia ngUoi va ton
thuang cac dudng tieu nao, mat dong van. mat phoi h a p
(incoordination). Doi khi c6 nhting dong tfic m u a vdn v&
roi loan c a m giac cho nen hoi chting n a v la =U phoi hap
mot hoi chting Foville typ II vai mat c a m giac nUa ngUtii,
liet nhe ntia ngUtii cheo va mot hoi chting nua than tieu
nao thAng (mat dieu hoa ntia ngUtii, run nUa than va m u a
van ntia than).

574. R AYN A U D ( B e n h )

Benh Raynaud (1862) la mot benh thuang tu phat, do

roi loan nguyen phat van mach ngoai bien, h a \ xay ra a
nguai tre giai nti. No co the la mot trieu chung som cua
mot so benh tao keo (benh cting bi: sclerodermie > Benh
duac dac trung bai nhting roi loan van m a c h c a c d a u ch i
k ie u thieu mau cuc bo va ngat tai cho, phan b o c a n xting.
co the co bien chting hoai thu cac dau chi vdi r o i l o a n dmh
duang.

Bieu hien a day mat la nhting ton hai tuan hoan vong
mac vdi cac hinh thai khac nhau cua tac nghen mach mau.
NgUtii ta co noi den co that dong mach tting luc. tam thai

298
lam giam thi ltfc, song can ltfu y kha nang co thf* xay ra
tAc nghen dong mach vong mac dan tdi teo thi than kinh.
Vung tinh mach cung co hien ttfdng co hep mach gav ra
huyet khoi. Lanh cd the tac dong den nhtfng con co mach,
va phai tim cryoglobulin huyet.

575. R E C K L IN G H A U S E N (Benh t h i n kinh)

Benh than kinh Von Recklinghausen (1882) la bieu hien

cua mot loan san phoi than kinh - ngoai bi. Benh u xo
than kinh (neurofibromatose) ttfcfng ttf vdi benh than kinh
- da (phakomatose), d the nang thtfdng la di truyen theo
kieu troi autosom, va co do tham nhap khdc nhau.

Benh xuat hien khi tre em mdi sinh ra (u xa than kinh

blm sinh) hodc d trang thai tiem tdng mai ve sau mdi hoc
lp. Co nhdng trieu chufng ddc trUng nhtf sau:

- B ieu hien d da: dudi dang nhufng u da hodc dudi da,

u rln hoac mem, ddi khi c6 dang nhu nhufng u mem
(molluscum). Nhdng tao tdc u ndy cd the d khdp ngudi.
Nhdng chd'm sic to' goi Id chd'm "cd phe stia", thuc su "Id
nhdng ncfvi vdi kich thudc khdc nhau".

- Bieu hipn than kinh, cd nhieu, dudi dang nhdng u

nhd u thin kinh (neurinome), u gliom ngoai bien. Trieu
chdng dau vd suy sup do ch&n 6p bieu hien rd't da dang.
Doi khi nhieu u ke sat nhau, tao ra ddm roi u thdn kinh
(nevrome plexiforme).
Sau cung, cdc bieu hien da dang v l tdm thin , phu tang,
tieu hod, trung that, n<?i tiet va xUcfng ldm cho viec chan
doan them tic roi. Cdn luu y la cac th£ benh nhe vd biet
lap cung hay gdp.

299
 Bieu hien o mdt co nhieu, da dang va thtfc ra da duoc
biet ro (Charleux. 1957).
0 mi mat. co the thay nhufng di dang thac stf. dac biet
la dam roi u than kinh thtfcfng hay d mi tren. tao thanh
mot to chtfc u r^n va dan hoi.
Trong nhufng trtfdng hop khac thi mi mat chi hoi day
len, tao ra mot sup mi gia, hoac cac ldp da d mat phi dai
va co nhieu nep gap to ttfdng d da. Doi khi cdn cd them
su phi dai xUdng cua khoi xuong mdt.
U xo than kinh trong hdc m£t se tti tti gay ra ldi nhan
cfiu; u nay cd the' ung thu hoa. Han htiu mdi gay ra tdn
thtfcfng xtfcfng cua thanh hoc m^t, lam cho mat chat xtfong
va dan den thoat vi nao - mang nao vdi ldi mat doi khi
cd nhip dap va cd cac dau hieu v4 X quang Bieu hien a
nhan cau cung nhieu va dung tdi tat ca cac mo. ngoai trtf
dich kinh va the thuy tinh, ve nguyen tic ma ndi Nhtfng
cau tao ncrvi. nang u va than kinh co the a ket mac, cung
mac, mong mat. Kham bang sinh hien vi doi khi thay
nhurng soi than kinh cua giac mac bi day len. Soi day mat
de tim u than kinh a h^c - vdng mac.

Sau cung, can chu y den sir phoi hop kinh dien cua mot
glocom bam sinh va tat khua't triet, thudng a mot mat.
Nhufng u cua thi than kinh nhtf u gliom va u nguyen bao
mang nao, lan tdi gai thi. than cua thi than kinh va tdi
giao thoa U lan len tdi so nao la tieu chuan chinh ciia
tien luong va dieu tri Sau cung, khong dtfoc quen rang
trong qua trinh tien trien cua cac to chtic u so nao. nhting
hau qua ve mat than kinh - mat co the xay ra doi vdi cac
dudng thi giac va van nhan.

300
 576. REESE (IJ mau mao mach)
Reese (1 9 5 1 ) dung ten goi u mau m ao m ach
(hemangiome capillaire) de chi nhufng dam nho len a vong
mac chu bien, gom cac "qua cau" (globes) nho. mau do
khong gay tdn hai nghiem trong cho cac mach mau lan
can, nhung co thoai hoa vong mac phoi hcfp. Ve sau nay
cac duf kien mo hoc da cho phep cac tac gia nop nhufng
phinh gian mao mach nay vao cung nhom vdi benh u mach
Leber va benh viem vong mac Coats.

577. REESE - BLOD I (Loan san vong mac)

Benh loan san vong mac Reese va Blodi (1950) la mot

tap hop nhieu di dang cua mdt vd ca the, gom c6 loan san
vong mac 2 mdt va cdc di dang phu tang khdc nhau. Phucfng
thufc di truyen rat khong chdc chdn. Nhieu trudng hop gia
dinh da duoc neu len. Ddy Id sU roi loan cua tao quan
(organogen&se) d vao khoang gitfa thdng thtf nhd't vd thdng
thtf hai.

- T ri£u chtfng of m dt gom chu yeu Id mot gia gliom

v5ng mac d 2 mdt, co ngay ttf khi mdi sinh dtfdi dang mdt
ddm xo due ddng sau the thuy tinh. Trong mot so trudng
hcfp, cdc nep the mi cd tham gia vdo viec tao ra ddm gia
gliom ndy. Ti£n phong hep, phdn ndo nhan cdu be vd cd
ca ton luu mang ddng ttf. The thuy tinh doi khi dinh chat
vdo loan san vdng mac vd d chd d6 bi due, tien den due
them. Sau d6 cd the xay ra nhan cdu mdt trau thtf phdt.

Trong mot vai trtfdng hop soi dtfefe ddy mdt, ngudi ta
thdy nhtfng n£p gap vdng mac hoac bong vong mac nhidu
hodc it. D iin vdng mac tdt ngd'm.

301
 - B id u h i e n n g o a i m a t nhieu va khac nhau
Ton thucfng nao, trail dich nao. tri tre tam than dau
be. vo sinh tieu nao, thoat vj 11A0 ;
Ton thucmg xUdng. nhieu ngon, b a n chan veo. sUt moi,
veo hong;
. Ton thuang tim: hep dong mach phdi, tim to, tam
chdng Fallot, luu tdn 16 Botal. Sau cung 1& nhdng di dang
cua dng tieu hoa nha trit ong, hep ong vfi di dang cua he
thdng sinh due - tiet nieu, bd sung them v&o benh ly da
dj dang rat phong phu n&y mil mpt so ldn trudng hop bi
td vong.

578. R EFSU M (Hoi chdng)

Refsum (1945) mo ta mot hoi chdng gia dinh di truydn

- thoai hoa ma ong goi la "benh di truyen mat dieu ho&
dang viem da day thfin kinh" (heredopathie ataxique poly-
nevriforme). Benh nay co ve thuoc nhom mat dieu hoa di
truyen (giong nha benh teo ca than kinh Charcot - Marie
va Tooth), ca nam nd deu bj va di truyen theo kieu lep
autosom; thadng thay bo me cung huyet thong Quan diem
sinh benh hoc hien nay cho no la mot benh chuyen hoa
do qua tai axit phytanic. Benh thadng khdi phat vao Ida
tuoi td 20 den 30. Co cac trieu chdng nha sau

1. T h oai hoa sac to v on g m ac co quang ga. thu hep

thj tradng, dien vong mac giam hoac tat Soi day mat thay
sac to phan tan, doi khi dien hinh vdi nhdng vet tao cot
hoa, hoac khong dien hinh vdi kieu phan tan tieu mudi".
2. H pi chufng viem da d ay than kinh n d n g gay liet
cac dau chi vdi giam hoac mat phan xa gan va teo co.

302
 3. Cac dau hieu tieu nao m a n o i bat la m a t d i e u h o a .
4. Phan ly album in - te bao dich nao - tuy.

Nhufng trieu chufng khac rieng biet cua hoi chufng Refsum
cung duoc neu len nhu: diec nguyen nhan than kinh. dien
tain do bat binh thuang, dj dang cac dau xuang. mat khUu
giac, benh vay ca (ichtyose).

Ve phuang dien mflt, ngoai viem vong mac s£c to, con
co nhUng dj dang ddng tuf (co dong tuf va phan xa quang
van yeu), due the thuy tinh dudi bao sau va, han hUu, co
liet van nhan hoac ton thuong giac mac.

B^nh tien trien cham theo tting con, cach quang tUng
thdi ky thodi trien tam thdi, thudng Id kha kha quan. Tuf
vong dot ngot co the xay ra do liet ho hap hodc do truy
tim - mach. Theo J.Francois thi hoi chting Refsum cd the
Id trung gian gitia cdc thodi hod nao - vdng mac vdi thodi
hod tapeto - vdng mac phdi hop vdi mat dieu hod di truyen.

579. R E IG E R (HQi chting)

Hoi chting Reiger (1935) thuc su la mQt loan sinh di

truyln md trung bi cua cdc thanh phan tien phdng (gidc
mac vd mong mdt). Soi sinh hitfn vi thay nhuoc san md
mong mdt vd nhieu be (trab^cules) ndi vdnh vien mong
vdi mot ttf chtic vdng due phdi sau (embryotoxon posterieur)
(xem Axenfeld).

Cdn thay nhting di dang khdc nhu khuyet mong vd gidc

mac to.

Cdn luu y d£'n sU xuat hien mdt trau do di dang vung

b£ vd gdc mong - gidc mac.

3 03
 580. R E IL LY

(Xem ALDER REILLY.

581. REIS - BU C K LER S (Loan dudng giac inac)

Benh loan dudng giac mac di truyen - gia dinh Reis

(1917) va Bucklers (1949) gay ton hai d mang ngSn trUdc
cua giac mac.
Trieu ctourng xuat hien sdm d ca hai m it vd can xiirng.
Ndi chung cdc cham bui md due khu tru d mang Bowman
vd phan bd' khong deu theo kieu "ban d6", tao ra mot vdng
dam due d chu bien. Vung gidc mac quanh ria luon luon
ducrc ton trong. BQnh tien trien tuin ttf, ldm giam thi ltfc
vdi tUng cdn dau nhufc, xudc bieu bi. Ve sau. cac cham md
due tien trien ca v§ be mdt cung nhu chieu sau sau nhilu
nam.
Loai loan dudng gidc mac nay khong kem theo cdc ton
thudng khac d mit hoac di dang khac trong cd the.
Theo Biicklers thi benh di truyen theo kieu troi autosom
va do tham nhap cua gen rat cao. Ghep giac mac nong la
phUdng phap dieu tri tot nhat.

582. R E IT E R (Hoi chUng)

Gdn nhu dong thdi trong ndm 1916, mot ben !a Reiter,
ben khac la Fiessinger va Leroy, cung mo ta mot hoi chUng
mdt - nieu dao - khdp. Trong khi Reiter khong quv no vao
mot nguyen nhan cu the the nao thi Fiessinger va Leroy
cho no la mot bien chufng ciia ly true khuan.
- HQi chufng mdt chu yeu la mot viem ket mac d cd
2 mdt, co cuong tu ket mac va tiet ruf cd mu ma xet nghiem

304
vi khuan khong tim thay mot mam mong vi khuan nao.
Tien ludng lanh tinh. Thirdng mat dau nhufc va sd anh
sang, lam cho ngudi ta nghi tdi sU tham gia cua the mi,
co the dan den viem m ong mat - the mi, viem mong mat
hac mac thi hiem hdn.
Viem m ong mat nay khong khac gi vdi viem m ong mat
- the mi thap khdp; cung nhu loai sau, no co the keo dai,
tai dien va gay cac bien chUng nhu viem giac mac va viem
cung mac.
- Viem nieu dao la dau hieu xuat hien sdm nhat: viem
nieu dao am 1, kin dao, co the bo qua khong biet. No lam
chay ra mot thtf ntfdc trong - nhdy (s^romuqueux) vo khuan.
ViSm khong keo ddi va it khi qud mot thdng; han htfu mdi
cd bien chtfng d bang quang hodc tuyen tien liet.
- Bieu hipn if khdp la cua viem thap khdp, ttf dau
nhtfc khdp dcm thudn den the nang cua viem da khdp man
tinh vd viem ctfng khdp song.
- Cdc ton hai khu tru of nhtfng nofi khac cung cd
dtfdc neu len nhtf d ruot, da (ban d6 lo£t - cd vay, tdng
stfng hod d mieng vd bo phan sinh due), tuyen mang
tai.v.v...
Benh phoi hdp mdt - ni§u dao - hoat dich ndy dd gay
ra nhiiu stf bdn lu$n ve y nghla cdn nguyen cua nd. Ngtfdi
ta n6i tdi vai tro cua cdc mam mong d ruot nhtf ly trtfc
khuan, cua cdc benh nhiem khuan khong dac hieu d nieu
dao vd d co quan sinh due. Gan day nhd't cac cong trinh
nghien ctfu htfdng ve virus nhtf virus the vui (sinh vat L)
vd chlamydozoon m £t - sinh due. Nhtf vay thi cd ve day la
mpt hQi chtfng cd nhiiu cdn nguy§n.

305
 583. K K N D U - O S L E K (B enhi
Benh Rendu <189(5 >va Osier (1901) hay la benh u mach
xuat huvet gia dinh la mot benh di truyen hiem thay, di
truyen theo kieu troi autosom.
Bo mat lam s&ng dac trtfng gom hai loai trieu chiing lfi
xuat huyet va u mach.

- Xuat huyet chu yeu xay ra d tuoi day thi vfi trtfdng
thanh. Thtfcfng dtfdi dang chay mfiu cam ttf nhien hodc sau
mot chan thtfong nhe. it khi thay xuat huyet d cac niem mac
khac nhtf d phe quan, dtfdng tieu hofi, ti§'t nieu, mieng - hpng.

- U mack thtfdng xufi’t hifn vao khoang gitfa 20 vfi 30

tuoi, doi khi a tuoi ldn hon, nghla la nhieu nam sau khi
bi xuat huyet. Phinh gian mao mach la trieu chtfng chinh
va thudng d da va niem mac.

0 da cd the thay mao mach phinh gian hoac cd hinh

sao tuong tu nhu mot u mach hinh sao, khu tru a da mfit,
ngdn tay, chfin, mong tay. Cd tdn thuong niem mac 16 mui,
ho mieng.

Ve nguyen tfic thi benh ky di nfiy tien trien nfing dfin

len. Xuat huyet nhieu va tfii dien, gay khd khan cho sinh
hoat cua benh nhan va din den thieu mfiu man tinh Dac
biet la chav mau dudng tieu hoa co the nguy kich

- Benh hai a mdt thi trudc het la nhtfng u mach d mi

- ket mac va phu them la nhtfng bien doi d day mfit.

Nude mdt co mfiu la mdt trieu chtfng hiem hoi va rat

ky la, ngudn gdc do u mach ket mac mfi ddi khi phai tim
kiem d cung dd ket mac.

306
 11 mach ket muc chu yeu la a dang nhung dom xuat
huyet loi it hoar nhieu, trong giong nhu nhUng cuon mach
mau khi soi smh hien vi NhUng phinh gian mao mach a
ini the hien bang nhung u tinh mach nho dudi dang hinh
sao hoac not u, co nhieu a bo' mi.
Bieu hien a vdng mac it thay hcfn, va bieu hien bang
nhUng xuat huyet ke van hoac tUng dam tron. nguoi ta co
cung co noi den nhUng u mach va phinh gian mach. Sau
cung la c l n luu y den kha nang thoai hoa keo vong mac,
va nhUng dau hieu t&ng huyet ap va xcr cUng dong mach.

584. R ID L E Y (Viem hie - vong mac)

Benh viem hie - vong mac Ridley (1945) la bieu hien
quan trong nhat cua ton hai cdc ldp sau cua m it trong qua
trinh benh giun onchocerca volvulus (onchocercose).
Hinh anh day m it la mot thoai hoa h ie - vong mac
kieu "bun kho" (boue sech^e). Teo thi th in kinh va xO cufng
mach mfiu h ie - vong mac gfiy ra nhufng ton thuong teo a
cuc sau vdi stf dao Ion sic td' th&nh tdng cuc. Dong mach
bi co hep lai va d&y vo ra; tinh trang tang sinh te bao
than kinh dem vong mac (gliose rejinienne) xen ke vdi
nhurng vung teo va co sic to.
Viem hie vong mac gay ra qudng ga, thu hep thi trudng,
giam thi luc va ton hai dien vong mac ky. Day thuc sU la
mot hoi chUng thoai hoa tapeto - vong mac hau die (xem
benh Robles).

585. R IL E Y - D A Y (Hoi chdng)

Hoi chufng Riley - Day (1949) duoc dac trung bdi su kho
tiet nude m it, ton hai he than kinh dieu hoa va cac ton

307
t huong t h a n kinh, trong the benh hoan chinh. gay tu vong
vao khoang 2 0 tuoi

Tap hop da trieu chUng nay di truyen theo kieu l£p

autosom, ca hai gidi deu bi Cac trieu chung xuat hien ngay
tu tuoi tho au Can luu y den ty le tuong doi hay gdp 0
tre em noi giong Israel.

- T rieu chtfng d m dt chu yeu Id bdi tiet ntfdc mdt

khong c6 hodc bi giam rdt nhieu, tti d6 gdy ra mQt hQi
chting kho mdt thtfc su vdi cdc tdn hai thti phdt d gidc
mac, tti k£m cam gidc den lo6t bidu mo vd c6 thd tidn
trien den loet ndng. Loai viem gidc mac ndy khong k£m
theo dau nhUc nidt hodc so anh sang.

- Ton hai he than kinh gay ra nhung con tdng tiet

mo hoi, xuc cam bat on, nhung con cao huyet ap, tdng
nhiet do. Con co ca m oc ban thoang qua d da. cac roi loan
ve tiet nieu va tiet nUdc bpt.

Ton thuong nao tan man bieu hien bdng su thd o bam
sinh vdi dau nhUc, su mat phoi hop va phan xa ma cac
phan xa nay cd tinh chat nhuoc trUOng (hypotonique), tieu
tien khd khan. Trieu chting v l thdn kinh rat phtic tap nhu
co giat, tri tre tam than va non mUa.

586. ROBIN (PIERRE) (Hoi chUng)

Do Pierre Robin md ta ndm 1923, hoi chting da dj dang

nay cua tre so sinh tuong Ung vdi mot di thudng cua phoi
Cac trudng hop gia dinh rat hiem thay. Trieu chting gom co

- Nhuoc sinh vdi dj tat xuong ham dudi be vd liii ra sau;

- Ntit man hau - vom mieng (fissure v61o - palatine);

308
 - Thut 1Lfcfi (glossoptose).

Nhufng di dang nay gay kho khan ve ho hap va an uong

cho tre. Nhieu di dang nang a mat duoc neu len trong
khuon kho hoi chiing nay nhu glocom bam sinh, nhan cau
be, due the thuy tinh bam sinh va loan san giac mac. Can
thi nang cung duoc neu len.

587. ROBLES (Benh)

La ten goi 0 My La tinh de chi benh giun chi o m it

do onchocerca volvulus ttf sau nhufng cong trinh nghien
diu cua Robles (1917). Ngtfdi ta bi£'t rin g giun onchocerca
duoc nhiiu loai rudi vdng truyen cho ngtfdi, deu cd d cdc
vung Trung Phi, Tdy Phi vd Phi xich dao. d ddy, chung
tdi xin nhic lai n g in gon d i nhd m0t vdi biiu hien d
m it cua b§nh ky sinh trung ndy. Nhtfng tdn hai d phin
trUdc m it la do d'u trung giun chi tai chd trong khi nhtfng
ton hai trong m it vd d cdc mdng sau chu yeu Id nhtfng
biiu hi§n nhiim doc do giun chi vd do du trung giun chi
bi ch£t.

Cf ket mac vd mi m it cd the cd nhtfng not hodc au trung

giun chi. Tdn hai gdy mu loll la nhtfng khu tru d gidc mac
vk ria nhtf vi#m gidc mac chim , vidm gidc mac xa hinh
Him, ton thtfong viem mong m it vdi l^ch mdo dong tuf, va
nhit Id tdn hai h ie - vdng mac vd teo thi than kinh (xem
viem hie mac Ridley).

Chan dodn benh, ngodi viec cdn cti theo phan bd dia ly
dich ti, cdn dtfa vdo nhtfng nd't d da, sinh th iit da, vd x6t
nghiem mdu cho thay cd au trung giun chi.

309
 588. ROCHER - SHELDON Hoi chung)
ChUng loan san xuong - co Rocher (1913* va Sheldon
(1932) rat hiem thay. 0 tre nho, xuat hien cac ton thuong
khdp nhieu noi vdi cUng va bien dang khop. va ca c ton
hai co nhu bat san co co the gay bai liet hoan toan cfic
nhom co. Dien co ky cho thay bi tat ngam Cac dj dang
ve xuong duoc neu len nhu xop xuong, dinh lien khdp xuong
sudn, xuong ding tay va xuong co tay.v.v... Sau cung la kha
ndng cd nhurng nep gap da d vung nach va a ngdn tay.

Tinh di truyln cua hQi churng nay cdn dang duoc ban
cai; mot so trudng hop gia dinh co di truyen trQi va ldp
da duoc bao cao.

Cac bieu hien o m at co ve nhu duoc tieu bieu bdi mpt

so trudng hdp lech cho (dystopie) ciia goc trong m at, tao
ra trang huong giong nhu trong trieu chUng h oc cua hoi
chiing W aardenburg - Klein.

589. ROCHON - D U V IG N E A U D (H oi chUng)

Hoi chUng Rochon - Duvigneaud (1896) duoc nhieu ngudi

biet hdn vdi cai ten goi la hoi chUng khe budm G om ton
hai toan bo hoac mot phan cac day than kinh di va o mat
qua khe nav. Nhu vav, trieu chUng gom co

- Liet van nhan thudng la toan bo, do ton thuong cac

day than kinh III, IV va VI;

- Mat cam giac giac mac do ton thuang day than kinh
mat (V).

- Thudng hay cd them ldi nhan cau do cac tinh mach

mat bi chen ep.

310
 Can nguyen, ngoai viem xuang - mang xuang do giang
mai da biet tu lau, chu yeu la cac chan thuang va khoi u
nhu u mang nao va phinh mach.

590. ROLLET (Hoi chUng)

Hoi chUng nay hoan toan giong vdi hoi chUng dinh hoc
mdt. DUng hang ddu cua benh canh lam sang la nhung
bieu hien ve thi giac va ddng tii do ton thuang cua day
thdn kinh doan trong ong thi. Hoi chUng dugc tao nen bdi
chan thuang va d&c biet la do chen ep bdi khdi u, phoi
hgp vdi hoi chUng liet d khe budm, do dd hoi chUng bieu
thi nhtfng ton thucfng cua tat cd cdc thdnh phdn mach mdu
- thin kinh d dinh hoc mdt.

591. ROMANA
(Xem CHAGAS)

592. ROMBERG (Benh)

Benh Romberg (1846) hay b$nh Parry (1825) vd Rom­

berg, dugc biet thong thudng dudi cdi ten goi Id b^nh teo
mQt ben mSt tudn tien (hgmiatrophie faciale progressive).
Can nguySn chua ro; thudng hay n6i tdi bd' me cung huyet
thdng, nhung kilu di truyln thi cdn chtfa xdc dinh ro.
Trieu chtfng chu yeu Id stf xud't hien ddi khi d tutfi tre
con vd cd hai gidi nam ntf - mQt stf teo ddn dan d ntfa mat.
Teo cdc mo te bdo vd md dudi da, teo cd vd ca xUcfng d
ngay dudi dd. Teo thudng bdt ddu ttf vung quanh hdc mdt
roi lan ra ntfa mdt, ntfa ludi. T6c, long mi, long may cung
phia bi bac mdu vd thudng bi rung. Cd th i phdi hgp them
cdc rd'i loan v l t ilt md hdi vd vdn mach.

311
 Han hUu mdi thay teo toa lan den nUa nguoi cung phia
ho$c a ca hai ben mat
Ngoai teo d mi va hoc m it gay ra lom m it vdi sup mi,
cdc bieu hien d m it chu yeu la nhdng dau hieu cua dong
tu cung phia nhu co hoi chUng Claude Bernard - Horner,
di sfic mong m it ddn thuin hoSc phurc tap ki£u Fuchs.
Trong mot so trudng hdp, ngudi ta th iy cd t<5n thucmg viSm
gidc mac thtf phfit, Ion bd mi.

Theo Waardenburg, cd ton hai v§n nhan ngoai lai trong

70% cdc trieu churng; theo dudng ghi dien cd thi nhurng liet
n&y cd the do nguyen nhan cd gidi. Rat hiem cd teo thi
thin kinh v k ddng tuf Argyll - Robertson.
Co the gin benh n&y vdi hoi chUng roi loan tao dudng
dan (status dysraphicus) vi ngudi ta thay co sU phdi hop
vdi benh cUng bi kieu "nhfit guam' (sclerodermie en "coup
de sabre"). Han hUu mdi c6 bieu hien d m it ben phia doi
lap vdi teo nua mfit.

593. RONNE
(Xem BJERRUM)

594. ROQUE (Dau hieu)

The hien bin g sU gian dong tuf d m it ben trai do mot
phan xa xuat phdt tU mot viem mang trong - mang ngoai
tim (endo - p^ricardite). Do kich thich thin kinh giao cam.

595. ROSENBACH (Dau hieu)

Khi nhim mit lai, 2 mi rung rat khe, bieu thi mQt
trang thdi co cUng va nhay cam than kinh. Trieu chUng

312
nay co trong benh G r a v e s - Basedow, trong mot so benh
cua he than kinh trung uang, dac biet la trong benh xa
cufng rai rac. Sau cung la dau hieu Rosenbach thay a nhufng
ngudi de bi kich thich va hay xuc dong.

596. R O SE N TH A L - K LO E P FE R (Hoi chufng)

Dugc cac tac gia mo ta n&m 1962, hoi chufng mdi nay
c<5 tinh di truyln troi autosom va gom bo 3 trieu chufng
sau day:
- Seo giac m ac d 2 mfit, gay trd ngai ldn cho sir nhin
va kho chiifa bang phau thuat. Cdc ch6 md due giac mac
thudng khdi phat d gdc tu mui dudi, sau dd lan ra ck 2
giac mac, nhung thudng vung ria dUdc ton trong.

- Co trang thai b$nh to ctfc (aspect acrom^galique)

vdi nhufng cuc budu to d tran, tren hoc m^t. Nhurng trudng
hop benh an gia dinh da dUdc mo ta deu khong cd mot
ton hai X quang nao cua ho y6n.

• Ton thtftfng da kieu cutis verticis gyrata, nghla

la c<5 nhdng nip gfi'p d da mat va da d£u biiu hien dudi
dang nhurng nip nhan nhd cao.

597. ROSENTHAL
(Xem MELKERSSON - ROSENTHAL)

598. ROTH (Viem vong mac nhiim khu^n)

Viem vong mac nhiim khuln Roth (1872) la mot viem
vong mac nghen mach te vi, xufi't hifn trong mQt so trang
thai nhiim khufin huyet dac biet va ndi rieng la trong
b§nh viem mfing trong tim nhiim khuan. Cfic biiu hien

313
chufc n3ng thudng kin dao Soi ddy mdt cho th.iv nhtfng
d a m xudt huyet phan tan, trdng d giUa (cham Roth), trdn
hoac bdu due, theo hinh cdi xuong (canoe xuong nho). Ddi
khi cac chain co the ton tai biet l a p va bieu hien mot sU
thoai hod co phu ne cdc soi than kinh vong mac. Xudt
huyet duoc tao thanh nhanh chong sau vai gid , roi bign
di, lai xuat hien d chd khdc; dd la nhting hoai tti c6 gidi
han cua vong mac d ngay cdc khuan lac di theo dudng mdu
phan tdn vao ldp stfi thdn kinh. NhUng dam xudt. huyfi't
ldn hon vdi o mau trdng d gitia cung c6 the a phia trudc
cdc mach mau trong tinh trang md due toa lan vd phu n£
cua vong mac.

Cdn phai biet sU giong nhau gitia nhting trang thai vdng
mac nhu the vdi cdi ma ta thay trong mot so benh viem
vdng mac do thieu mdu vd benh bach cau.

599. R O TH M U N D (Hoi chUng)

HQi chting Rothmund (1868) duoc ddc trung bdi su phdi

hop mot benh da bi£'n dang (poikilodermie) vdi mot due
the thuy tinh bam sinh. Trieu chting bieu hien ngay tU
nhdng thdng dau mdi sinh. Di truyen theo kieu lep autosom
va bo' me ro rang cung huyet thdng. Nti gidi bi nhieu hon.

- Ton hai cf da bieu hien biet lap trong thdi gian dai,
mai ve sau the thuy tinh mdi bj. Benh da bien dang the
hien bdng nhUng to’ n thuong d da ma sau khi phdt ban thi
tien tdi lam seo xcf. Do dd cdc ton thucfng duoc tao nen
bdi mot sU hdn hop teo va xcf hod da gian mao mach vd
nhting vung cd s£c to hodc khong sdc to. Benh da ndy chu
yeu la d mat, chi tren va cdng chan.

314
 - Due the thuy tinh b a m sinh l u o n lu o n a ca 2 mat
va doi khi nhanh chong xay ra sau vai ba ngav. Thirdng
no khdi phat vao khoang giua 2 va 5 tuoi. Cd the bi ngay
luc mdi de. Thdng thudng no se tien trien den due chin
hoan toan. Cd the cd du cac trang thai: due vang. due hinh
dia d ciic sau. Ngudi ta cd neu len mot so trudng hop due
gidc mac toa lan d ca 2 mat hoac viem giac mac bong.
- Cac dau hieu phoi hofp thudng la nhung roi loan
hien bo (troubles des phaneres) nhu rung tdc, long va hoi
trdn sdm, khong cd hoac thua thdt long mi, long may, dj
dang mong vdi ban tay va ngdn tay be.

Roi loan noi tiet chi xuat hien khi den tutfi trudng thdnh
vdi tinh trang gisim n&ng tuyen sinh due vk hdnh kinh
muon, kinh nguyet it, vd kdm phdt trien cdc cc( quan sinh
due d ddn dng. Hiem cd hoi chufng phi sinh due.

600. ROUSSY
(Xem DEJERINE - ROUSSY)

601. RUBINSTEIN - TAYBI (Hoi chtfng)

HQi chtfng Rubinstein vd Taybi (1963) Id mot hoi chtfng
da di dang d tre em, cd the do di truyen. Chua ro truyen
theo kieu ndo. Cariotyp binh thudng.
Trieu chUng chu yeu gom chiing lun loan dang v i the
chdt vdi tri cham tam thdn.

Ngdn tay cdi va ngdn chan bet rong la mot nhan to

quan trong cua hoi chtfng, cac dot tan cung b£ ra, ca phan
m im vk xUcfng cung vdy; ngdn tay cdi ng&n, sdt goc; nhtfng
ngdn khdc ddi khi cung bi.

315
 Dang chu y la nhting di dang a so - mat: so bp. mui
quap, noevus flammeus cr tran va ham lui ra sau
Bieu hien 6 mdt da dang: khe mi xech ngUdc phia trong,
nep quat da goc mi, sup mi. NgUdi ta cung co noi den due
the thuy tinh bam sinh, khuyet tat (colobome), lfic mdt,
can thi ndng va teo thi thdn kinh. Hai trudng hdp "mdt
trau" da duoc bfio cdo (Braun - Vallon vk Guilaumat). Nhufng
di dang khfic cung duoc noi tdi nhu nhiim khuan dudng
ho hap, di dang long ngUc v& tinh ho&n lac vi.

602. RUD (HQi chting)

HQi chting Rud (1927) lit mot thtf bQnh cua chting ngu
- xo cUng da (idiotie sclerodermique). Trieu chting hoc, rat
gdn gui voi hoi chUng Sj5gren va Larsson, phoi hop benh
vay ca bam sinh voi chUng rung toe, long, tam than tri
don, lun, cac dau hieu dong kinh va nhi tinh sinh due.

Co the co nhUng trieu chting viem da day than kinh va

viem vong mac sdc to.

s
603. SABIN - FELDMAN (Hoi chting)
Nfim 1949, Sabin vk Feldman mo tk mot hoi chung viem
hac - vong mac gia lo khuyet d cuc sau phoi hap vdi voi
hoa nhao va tat dau be. Cdc x£t nghiQm mfiu thong thudng
ve benh toxoplasma am tinh cho phep biQt hoa the lam

316
sang nay trong khuon kho nhufng benh toxoplasma bain
sinh cua tre em.

604. S A B O U R A U D (Hoi chung)

O tre, toe co hot, de gay (monilethrix; chUng toe chuoi

hat), va co chUng day sUng chan long (keratosis pilaris);
co them giac mac hinh chop, ca long may cung bi Toe
rung tifng dam, ng&n, gay, khong deu. Co phoi hop nhung
roi loan vl rSng va mong. Due the thuy tinh bam sinh co
dugc noi tdi.

605. SACH S

(Xem TAY - SACHS)

606. SACKS
(Xem LIBMAN - SACKS)

607. SAENGER
(Xem ADIE)

608. SAINTON
(Xem PIERRE MARIE - SAINTON)

609. SAINTON (Dfiu hieu)

Co cting muon cua ca trdn sau dong tfic cua ca nang mi
tren khi dua mdt nhin len tren (Sainton, 1931). Dau hieu
ciia cudng tuy§n gifip.

610. SALUS
(Xem GUNN)

317
 611. S A L ZM A N N (Viem giac mac not >

Viem giac mac not Salzmann (1925) la mot benh thoai

hoa sau viem, de dang tiep theo sau mot viem gwic mac
phong nude (k^ratite phlyctenulaire)
Viem giac mac vdi dac diem la co nhufng u loi nho m&u
trdng nhat, d dudi ldp bieu mo, giUa nhUng not ndy la
nhUng khoang giac mac binh thudng hoac hdi due.
Nhtfng not giong nhu nhUng hat gao be, co trang thai
due Id nhd dudi anh den khe, tao ra mot vong dong tam
vay quanh trung tam giac mac. Not khong co mach mau
d sau ma chi hoi cd d ndng.
Xet nghiem mo hoc cho thfi'y ton thudng giac mac a ldp
nong, d bieu mo va d nhu mo k i ngay dudi do, mang
Bowmann cung bi huy hoai. Viem giac mac not Salzmann
it co trieu chtfng cd ndng va tien trien cham

612. S A N F IL IP P O

(Xem HURLER)

613. S A N G E R B R O W N (Mat dieu hoa)

Mat dieu hoa di truyen Sanger Brown (1892) la mat

dieu hoa kieu tieu nao, xay ra muon hdn mat dieu hoa
Friedreich, tUc la vao ltfa tuoi thanh men hoac khoang 30
tuoi. Cac trieu chUng vi co cUng rat nghiem trong, giong
nhu trong mat dieu hoa kieu Pierre Marie ma hoi chUng
nay d i bi nham lan. Biiu hien d mat chu yeu la teo thi
than kinh kieu nguyen phat va liet van nhan co song thi
va sup mi. NgUdi ta co ndi den mot viem vong mac sac to
phdi hop.

318
 614. S A N Y A L (Viem ket mac)

Mot. the benh dac biet cua viem ket mac lanh tinh mot
mat do benh actinomyces fSanyal, 1929)

615. S A T T L E R (Man che)

Phil giac mac thoai trien, nhin thay quang mau ong
£nh va phu bieu mo. Do deo kinh tiep xuc khong thich
hop (Sattler 1931 va 1946).

616. S A V I N (Hoi chiing)

H<ji chufng Savin (1956) g6m nhurng ton thUdng giac mac
loan dudng (giac mac day not va lo£t nong), nhufng bieu
hifn da vay ca va nhufng roi loan di tfng da dang.

Amalric va cong tdc vien nhan manh tinh chat di truyen

va gia dinh cua hQi chiing ma cdch truyln la tti ngudi me
vo bfnh, truyen cho con trai ma ban than khong bi mot
di sdn xa'u nfio khdc.

617. S C A R P A (Gian loi)

Gian loi phdn sau nhan cau (staphylome posterieur)

Scarpa la tinh trang gian phinh cung mac kinh dien d
phdn sau cua nhtfng con mdt bi can thi ndng (Duke - Elder).

618. SC H A F E R (Hoi chtfng)

Hpi chtfng Schafer (1925) rat gan vdi h o i c h i i n g H a n h a r t.

No gom co:

1. day stfng gan ban

N h Q n g t6 n th u a n g d a l o a n s iln g ,
tay - ban chin (keratose palmoplantaire) vdi tang tiet mo

319
hoi. Co ca tdng sUng hoa da nang tan man va ton thucmg
niem mac mieng <bach san: leucokeratose).
2. Due the thuy tinh bam sinh.
Ngoai ra, hoi chufng con co nhtfng ton thuong phoi hdp
nhu phi dai mong (chting day mong: pachyonvchie) lun
ngudi, dau be va giam ndng sinh due.

619. SCHAUMANN

(Xem BESNIER - BOECH - SCHAUM ANN)

620. S C H E IE

(Xem HURLER)

621. SCHEUERMANN

(Xem hoi chting SJOGREN)

622. SCHEUTAUER

(Xem PIERRE MARIE - SAINTON)

623. SCHILDER - FOIX fBenh)

Viem nao quanh true toa lan (encephalite periaxile

difTuse)hay benh Schilder - Foix (1912) la do su huy myelin
tuan tien cua chat trdng, nhat la o vung dudi vo nao va
vting cham cua nao.

Benh thudng cd tinh gia dinh, xuat hien d ca nam va

nti, hay co d ngudi cdn tre. Trieu chUng gom bo ba

- LiQt co giat hai chi dtfriri co tang phan xa gan, dau

hieu Babinski. Dan ddn cd the liet ca 4 chi.

320
 - Cac dau hi<*u ve huy hoai tam than: doi khi md
dSu benh canh lam sang bang nhufng roi loan tinh net, vo
cam hoac de bi kich thich, ctfdi va khoc co that,
- Ton thtfdng thi giac: ton thuong vo nao cham va
cac dudng thi giac tao ra ban manh ben, dong danh hoac
mu kieu vo nao co roi loan vung tam ly - thi giac, hoac
teo thi than kinh nguyen phat hay thU phat sau mot viem
gai thi phu ne. T hay co phu ne do U dong. Doi khi cd ndi
tdi nhufng ton thuong van nhan nhu rung giat nhan cau,
liet chdc n&ng va liet than day than kinh. Benh Schilder
- Foix tien trien den tu vong trong vai ba thang hay vai
ba n3m.

624. SC H IR M E R

(Xem STURGE - WEBER - KRABBE)

625. S C H IR M E R (Test)

Test Chirmer (1903) cho phdp do so luong bai ti§'t ntfdc

mit bang manh gifiy loc dai 35mm, rong 5mm, dat d cung
do k£t mac dudi.
Sau 5 phut, nude m it tham it nhat den 10mm chieu
cao. Dudi con sd' nay la tiS't nude mdt giam.

626. SC H L O S S M A N N

(Xem POSNER - SCHLOSSMANN)

627. S C H N Y D E R (Loan dudng tinh the)

Loan dudng tinh the giac mac (dystrophie cris-
tallinienne de la com£e) cd tinh chat di truyln va gia dinh,
ddi khi cdn mang ten dng Schnyder (1929 - 1939) la ngudi

321
da quan tam dac biet den viec nghien ciTu loai thoai hoa
giac mac nay va goi no la degeneratio cristallm ae heredi­

taria cornea .

Benh thuang cr ca hai mat va ton tai lau dai mot thi
lire kha tot. Di truyen theo kieu autosom troi va ca 2 gidi
nam nd deu bi. Trieu chdng bieu hien kha sdm va doi khi
co ve bam sinh. C6 due hinh dia a trung tam gific mac:
soi kinh hien vi thay due khu tru d 1/3 trtfdc cua ldp nhu
mo canh mang Bowman; nhdng ldp sau va chu biSn vin
trong. Ldp bieu mo nong vin nguyen liinh. Due c6 v£ nhtf
dtfgc tao thfinh bdi nhdng tinh th i hinh kim, doi khi cd
ong anh do - xanh hofic cd mku trin g nhat. Thtfdng c6
them lan dtfang d ria theo hinh vong tron. Can ltfu y khong
co nhurng dau hieu kich thich, khong co tan mach. Cam
giac giac mac giam nhe.

Cac xet nghiem mo hoc cho thay do la mot stf qua tai
lipit a trong giac mac.

628. SCHOLZ (Benh)

Benh Scholz (1925) tao ra mot the loai xa curng nao tan
man d ngtfdi tre. D6 lfi chdng loan dtfdng chat trin g nao
di sic (leucodystrophie metachromatique), ddc biet la co
stf tich luy chat sunfatit trong te bao than kinh. Trieu
chdng xuat hien a tre em trtfdc 10 tudi vk gom chu yeu
nhdng dau hieu bd thap, nhtf te liQt, li?t td chi, khoi phat
td chi dtfdi trtfdc; mat dieu hoa, dong tac mua vdn, va huy
hoai tam thin se nhanh chong xay ra va hoan chinh b<jnh
canh lam sang.

322
 Cac bieu hien 6 mdt, ngoai rung giat nhan cau va mot
it te liet van nhan, nhSm vao thi than kinh. gay viem co
am diem trung tam roi teo thi thdn kinh Mat cam giac
giac mar do ton thucfng day than kinh sinh ba cung dirge
neu len.
Benh Scholz tien trien nhanh va gay tu vong sau it
thang trong mot boi canh day cac trieu chUng mu, diec,
mat tri va liet nhieu ncfi.
Benh nay de nhiim vdi benh Greenfield (xem benh Van
Bogacrt).

629. SCHONLEIN - HENOCH (Hoi churng)

Ban xuat huyet dang thap khdp (purpura rhumatoi'de ou

pgliose rhumatismale) la mot hoi churng ket hgp ban xuat
huyet vdi cac bieu hiQn d khdp. Benh khdi phat dot nggt
bfing mQt trang thdi sot nhe va dau d cac khdp chi dudi.
Ban xuat huyet chu yeu lit d chi dudi vd cd kem theo cac
t6’n thuong ban do da dang. Trieu churng cua khdp len trieu
churng cua thap khdp cdp.
Ti£n tri£n cua benh thudng Ik khd ngdn vd khdi sau
ddm ba ngdy. Tuy nhien cd the xay ra cdc bien churng nhu
h$i churng dau d bung vd viem than. Ban xuat huyet dang
thap khdp thudng hay tai phdt. Trong qud trinh phdt ban
co the xay ra xuat huyet d mi, d ket mac va d cuc sau
nhan cdu dudi dang xuat huyet hdc - vong mac.

630. SCHULLER
(Xem HAND - SCHULLER - CHRISTIAN)

323
 631. S C H U R E N B E R G

(Xem AXENFELD - S C H l'R E N B E R (.

632. SE ID EL ( A m d i e m )

Am diem Seidel bieu hien stf lan rong cua d iem mu len
phia tren va xuong dtfdi (hinh ngon nen), dac bi^t xay ra
sau tang nhan dp Vdi cdc phtfong phap ky thuat do thj
trtfdng hi^n nay, ngtfdi ta cho day la mpt hinh anh gia tao
(artefact).

633. SEIDEL (Ddu hi?u)

Dau hieu Seidel (1921) cu th<? hda stf chay thodt ra ngodi
cua t h uy djch sau khi nho mot loai thuoc ntfdc co mau, dac
b i e t !a fluoresxein. N6 phdt hien ra chdn g han mot 16 ro
d ria giac mac, mot thoat vj m ang D escem et xop tham.
mot seo tham ra ngodi. Soi blng anh sang xanh (m ang loc
cobalt) se thdy ro thuy dich thodt ra dtfdi dang mot ddng
ntfdc cd bd bdt mdu fluoresxein

634. SHELDON
(Xem ROCHER - SHELDON)

635. SHELDON
(Xem FREEMAN - SHELDON)

636. SIEGRIST (Ke van)

Nhtfng ke van hinh soi chi don dang Siegrist (1899) tao
thanh nhtfng trang hat sic to d ddy mdt; nhtfng hat ndy
sdp xep doc theo mot mach mdu hdc mac bj xo ctfng
Thtfong thay ke van Siegrist khu tru d vung thai dtfong

324
dudi cf nhirng ngimi gia nua, bi vufa dong mach va can thi.
Xet nghiem mo hoc cho thay do la sir tang sinh cua bieu
ino sac to doi dien vdi cac mach mau hac mac. Can phai
phan biet rach roi ve moi mat nhufng ke van hinh soi chi
dcfn dang Siegrist vdi nhufng ke van mach mau (stries
angioi'des).

637. SIEM EN S

(Xem BLOCH - SULZBERGER)

638. SIEM EN S

(Xem CHRIST - SIEMENS)

639. S IL V E R M A N N (HQi chdng)

DUdc Corcelle nghien cufu mdi dfiy, hQi chufng Silver-

mann hay la "hQi chufng tr£ em bi dfinh dap" (syndrome
des enfants battus); tr&n thuc te, thay d nhufng em be bi
ngUdc dai vfi doi xiir kh6’ sd (bi dfinh dap, roi vot, bong,
v£t thUdng,v.v...). Do dd cd nhurng trieu chufng sau dfiy:
1. H6i chiing vi xiiong - khdp vdi nhQfng di dang ng£n
xucmg, ng£n chi (ding tay cong vfio, dfiu ngdn veo vfio
trong, dui cong vfio). Di dang cQt song it xay ra hcfn.
2. Ton thiiang seo a da.
3. B e n h h a i a m i e n g - m u i vdi su pha hoai it nhieu
vdch ngfin mOi vk mfin hau.
4. T r a n g th d i s u y d in h d iio n g nhu tinh hoan fin (cryp-
torchidie), tinh net thay ddi va tri tre tam than.
5. Binh hai a mdt, chu y£u bieu hiQn b&ng nhflfng tdn
thudng vong mac chu bien dudi dang nhufng vong hoa xung

325
quanh co sSc to. Corcelle va Theodorides nhan m a n h ve
kha ndng bi due the thuy tinh vdi nhijfng dau hieu v k in
mong m^t - the mi va viem giac mac loan dudng kem theo.
Theo cac tac gia nay thi do tac dong cua chan thuong tren
mot ca dia yeu kem sdn va co yeu td gia dinh

640. S IM M O N D S (Benh)

Suy mon tuyen yen hay la benh Simmonds (1914) lfi su

thieu ndng thuy trUdc tuyen yen tuan tien; hiem thfiy, h£u
nhu luon luon chi xay ra d ngudi tre vfi thudng lfi nur gidi.

Toan thfin gfiy roc td td, k&m theo giam nfing tuyd'n
sinh due, chan fin vfi rdi loan v l tfim than, ve cfi tinh. Doi
khi toan bo tao ra mot tinh trang thuc su chan &n do tam
than (anorexie mentale).

Ngudi ta co neu len nhdng due the thuy tinh cung nhu
nhdng phan dng roi loan cua dong tuf.

Cd the cdn cd nhdng dfi'u hieu khac d mfit nhd ton

thddng thi thfin kinh va giao thoa cd lien quan den u tuyen
yen hofic u so - hau.

641. SIWE
(Xem LETTERER - SIWE)

642. SJOGREN
(Xem GOUGEROT - SJOGREN)

643. SJOGREN
(Xem MARINESCO - SJOGREN)

326
 644. SJOGREN (Hoi chiifng)
Hoi chiifng Sjogren (1935) dtfoc dac trtfng bdi stf thtfdng
phoi htfp mot due the thuy tinh bam sinh vdi tam than
tri don (oligophrenie).

Due the thuy tinh bam sinh a ca 2 mat theo kieu vung
(zonulaire), nhtfng cung co the due toan bo hoac due cuc
bo (due d ctfc).

Tri don tam t h in , b oc lo muon hern, or n h ilu mure do ttf

suy yeu den dan don.

HQi chting SjOgren thd hiQn cr cd nam va nti, di truyen

theo kidu lep autosom; cin luu y den su hay thay cd bo
me cung huydt thong.

Cdc di dang khdc, thudng duoc neu len nhu rung giat
nhan ciu, m it be, gidc mac chdp, the thu^ tinh lac chd
vd binh Scheuermann (vi§m diu xtfcfng cQt sdng d ngudi
tri).

Cdn cd them nhieu di dang khdc trong co th i, vd doi

khi tao ra mQt tap hop da dang d khip ncfi.

645. SJOGREN (Loan dudng mo ludi sic td)

Loan dudng sdc to' hinh ludi d ctfc sau SjOgren (1950)
gom nhting ddm rai rac s ic to vong mac phan bo' theo kieu
sau ddy: d tai hodng didm cd mQt quing khong cd sic td
bao quanh nhting hat sic td'; d ctfc sau, sic td bo" tri thdnh
nhting dudng cheo nhau giong nhu nhting m it ludi hinh 6
vuong hodc da gidc cua mQt td'm ludi chdi cd. O nhting chd
cdc dudng b it cheo nhau thi sic td d$m mau hem. O phin

327
vong mac con lai thi gai thi va mach mau d£u binh thm 'i,;1,
churc nang thi giac nguyen ven.
Loai loan dudng vdng mac nay. xay ra trong cung mot
gia dinh, thtfdng cd kem theo tat cam - diec va nhtfng di
dang khac d mat nhtf the thuy tinh tron, can thi. lac m i t
va gian ldi cung mac xen ke. Di truyen cd ve theo kieu
lep autosom.

646. SJO G R EN - L A R S S O N (Hoi chtfng)

Hoi chtfng Sjogren - Larsson 91957) gom c6 bQnh vfiy

cd stfng bam sinh, chtfng tam than tri dQn va lift 2 ben
co ctfng (diplegie spasmodique), nhat la d chi dtfdi (goi y
benh Little).

Kinh dien thay cd thoai hda vdng mac d ctfc sau, xung
quanh hoang diem. Tdn thtfcfng vdng mac da dang, chang
han nhtf s ic to rai rfic, vfi doi khi cd ca nhtfng o teo hie
- vdng mac vdi nhtfng ve sdng nhtf ntfdc bot oc sen (en
bave d’escargot). Cung cd nhtfng chd thoai hda sic to' khong
dien hinh.

Hoi chtfng n&y cd tinh ch it gia dinh va di truyen theo

kieu l£p autosom. C in ltfu y dfic diem bo' me cung huyet
thong.

647. SL U D E R (Hoi chtfng)

Hoi chtfng hach btfdm - vom miQng (Sluder, 1908) tao

ra mot bo ba trieu chtfng phoi hop.

- Dau nhtfc thin kinh .quanh m it, d gdc mui, ring, ddi
khi dau lan ra ca nura m|rt;

328
 - Nhurng can dau xuat tiet vdi so mui va chay ntfdc mat
cung phia;
- Sung huyet niem mac mui va ket mac.
Hoi churng nay chu yeu la dau nhufc than kinh va xuat
tiet, tien trien theo ttfng can; tiem con hoac phenol vao
hach btfdm - vom m ieng thi hoi chdng giam bdt.

648. SM ITH - LE M LI - OPITZ (Hoi chtfng)

Hoi chtfng Smith, Lemli va Opitz (1964) gom cd stf cham

phdt trien kem theo tat ddu be va benh hai d nao. Phoi
hgp them nhurng di dang d mat nhtf mui hech (nez e n ’prise
ilectrique"), vom mieng hinh cung nhon vfi ltfdng tinh gia
nam gidi (pseudohermaphrodisme mfile).
Bieu hiQn d mfit la nhufng di tat nhtf sup mi vfi lfic mfit.

649. S M IT H - P AT AU (H6i chufng)

Hoi chufng Smith - Patau (1961) lfi chufng ba the nhiim

sic D (trisomie D) gom 7 th i nhiim sic chur khong phai
lfi 6, trong nhdm 13 - 15 (D).
Gfiy ra hoi chting da di dang cd stit moi vfi ntit v6m
hong, nhilu ng6n, di§'c vfi tri chfim tfim than; cd th ly ca
gilm san ong d in mat. Ton thucfng dr m it lfi md due gific
mac, khuyet tfit, nhan clu b i, doi khi khong cd nhfin cau
(Aymes).

650. SO E M M E R IN G (Vdng)

Vdng Soemmering (1828) lfi mot the dac biet cua due
the thuy tinh thtf phfit thoai triln xay ra sau due the thuy
tinh chin thucmg hofic mo lfi'y the thuy tinh de lai bao.

329
Nhufng mang the thuy tinh con sot lai bi bao the thuv tinh
giuf chat lay d ngang vung xich dao, co the tao thanh mQt
vong kha day va rat due. Doi khi can phai gian rpng dong
tuf de nhin thay ro vong Soemmering

651. S O R S B Y (Hoi chiifng)

Hoi chiifng Sorsby (1935) phoi hop mQt lo khuyet hodng

diem d 2 mat vdi loan dtfdng d dau cdc ngdn tay vfi ng6n
chan (ngdn ngdn, ngdn nhieu hodc dinh ngdn).

Theo Duke Elder v& J.Franfois, t$p hop da di dang ndy

g^n lien vdi hoi chufng Laurence - Moon - Bardet - Bield
vfi hoi chufng Biemond.

652. S O R S B Y (Thodi hda gia viem)

Thodi hoa hodng diem gia viem do Sorsby mo ta (1949)

Id mot loai thodi hda di truyln vd gia dinh cua vung hoang
diem theo mQt kieu cach rieng biet.
Trieu chufng boc lo d tuoi trtfdng thanh va ca hai gidi
deu bi vdi mot tan so' khdc nhau.

Benh nhan cho biet thi ltfc trung tdm d ca hai mdt bi
sut giam dan de cuoi cung di den mQt hoi chufng hoang
diem cd dm diem trung tam.

Ddy mdt goi len mot viem hdc - vdng mac trung tam
kieu viem, d ca hai mdt vd cdn doi. Vung hoang diem bi
che phu bdi o phu ne gdm cd dich ri vd xuat huyet. Ve sau
'xuat hien mot ddm teo hdc - vong mac mdu trdng nhat
rai rdc nhCfng ddm sdc td quan trong. Mang ltfdi mach mdu
hdc mac doi khi cung bi phd huy, de 1q cung mac ttfng chd.
Gai thi va mach mdu vdn binh thtfdng. Doi khi nhCfng 6

330
teo hac - vong m a c vtfot qua vung b i t o n h a i d a u t i e n L o a i
thodi hoa hoang diem nay tien trien k h a c h a m v a k e o d a i
hang ndm. Benh di truyen theo kieu troi a u t o s o m , m a c
ddu co nhufng trudng hop goi len kieu di truyen lep

653. SOTTAS
(Xem DEJERINE - SOTTAS)

654. SPANNLANG - TAPPEINER (Hoi chufng)

Diidc Spannlang (1927) va Tappeiner (1937) nghien ctiu,

hoi chiifng nay gom nhufng ton hai tdng sting a gan ban
tay - ban chan vdi tang tiet mo hoi v& rung tdc long cuc
bQ hoSc to&n bQ. NhUng bieu hipn d mdt duoc neu len nhu
viem gidc mac chu bien va due the thuy tinh b£m sinh
hinh thdi vung.

655. SPIELMEYER - VOGT - STOCK

(Xem BATTEN - MAYOU)

656. SPITZ (U hdc to' d ngudi tri)

U hdc to' da d ngudi tri Sophie Spitz (1948) thay xdy
ra d tri em hoic ca d ngudi ldn d ca hai gidi.
Theo Dhermy la ngudi da cd cong trinh nghien ctiu dac
sdc ve khu tru cua benh d mi mdt thi u hdc td d ngudi tr i,
vi lam sang, bieu hien nhu mot khoi u tron, b i vai milimet,
loi, chdc vd khong dau. It sdc t6' , dung hcfn la u c6 mot
mau sdc hong dfim hoac do. Doi khi khd chdn doan ph§n
bi§t vdi mQt t<>n thudng u mach. U cd xu the tang khoi
luong va ddi hoi phai lfim phfiu thuat cdt bo.

331
 Xet nghiem mo hoc cho thay ket qua thien vi- mot u
lanh, bieu mo van dugc ton trong Ton hai gom co, ngoai
nhCfng te bao hinh thoi va bieu mo, con co te bao khong
lo, dai va nhilu nhan; sau ciing, gian phan 'm ito s e ) khong
nhieu va binh thudng.

657. SP U R W A Y

(Xem LOBSTEIN)

658. STAHLI
(Xem HUDSON - STAHLI)

659. STARGARDT (B?nh)

Benh thoai hoa hoang diem di truyen va gia dinh hay
la benh Stargardt (da c6 nhieu cong trinh cong bo tir nfim
1909) la mot benhmfi moi ngudi thay thuoc nhan khoa deu
biet qua ro, cho nen khong din phai mo ta dai dong d day.
Thuc ra thi day la mQt hoi chufng rong ldn, bao gom nhieu
the thoai hod holing diem d ngudi tre ft nhieu co tinh di
truyen (the Best, Behr). Ton thuong giai phau benh la sir
phd hoai ldp bieu mo thi gidc trung tam va ldp hat ben
ngoai. Tinh di truyln cua b#nh Stargardt cd ve rat thay
doi: di truyln troi, di truyln l£p ddn thuan. Hie'm thfiy di
truyen lep lien quan gidi tinh. Co nhilu truang hap dan
phat.
Benh Stargardt bieu hien ngay tir khi con be hoac d
tuoi trudng thanh bang trieu chufng quang ga, va nhat lfi
thi luc giam dfin. Giam thi life d ca hai mat, thudng la
cfin xufng, dfin dfin chi con 1 den 2 / 1 0 , nhin gfin rat khd
khan; tuy nhien khong bao gid bi mil hoan toan, vi thi

332
trddng c h u bien van nguyen ven. L a m s a d o thi t r d a n g c h o
thay co am d i e m trung tam doi khi r a t rong. S a c g i a c bi
ton hai theo kieu loan giac true xanh - do, x a y ra t r d d c
giai doan mu mau. Tren nguyen tdc thi quang g i a c (sens
lumineux) van binh thirang; dien vong m a c cung binh
thadng, mac du co khi dddng bieu dien dudi mdc binh
thadng (trace subnormal), nhat la vdi anh sang do.

Hinh anh ddy mdt rat thay doi, tuy theo tdng ngudi va
tdng gia dinh. Ton hai dau tien bieu hien bang sd mat
dng anh cua fovea vdi phu nhe, va nhat la co tinh trang
sdc to hoang diem khong deu. Co nhdng sdc dng dnh k h on g
deu giong nhd bot d mieng o'c sen d vung hoang diem.

V i sau, xufi't hien nhurng ton hai sdc to', mfiu vfing nhat
xfim lan vfi vfiy quanh vung vong mac trung tfim. Den giai
doan sau cung thi sdc to tofi lan khdp cd vung hofing diem
ma luc bfiy gid dfi trd nen toi xin vfi teo. Ton hai sau cung
lan ra mQt vung khfi rong mfi true ldn theo chieu ngang
trong vdng cung cac mach mfiu thfii duong.

B£nh Stargardt d the thufin tuy khong cd nhting tdn

hai khfic cua day mdt. Tuy nhien, thudng hay phoi hop vdi
thodi hod d vdng mac sdc td hofic fundus flavi-maculatus. Ddi
khi ngudi ta cd md ta nhting ton thddng khfic d mdt nhu
nhfin cfiu be, di sdc mong mdt hofic tdn hai machmau vdng
mac.

Cung cd gfip thoai hoa hofing diem Stargardt phoi hgp

vdi b#nh tofin thfin nhd benh d he than kinh, roi loan noi
ti§'t vfi da.

333
 660. STEINERT (B*nh)
Loan dudng co lue Steinert (dystrophie myotomque de
Steinert) (1909) la mot b?nh di truyln va gia dinh. truyln
theo kieu autosom troi, nhung doi khi xuat hien nhu mpt
benh nguyen phdt Nguyen sinh benh cua mot benh ve
ban van dong thin kinh noi nay (plaque motrice neuromus-
culaire) hay con chua ro; co ve nhu day la su roi loan ciia
viec phan huy axetylcholin d dau giai doan co bdp cd.

Benh hay nhfim vao ngudi tre dudi 30 tuoi vfi nam gidi.
Trieu chting gom chu yeu lfi teo ca vung mfit, cd nhai (mfit
bi meo md), vung c8, d n g tay, vung trtfdc - ngofii cdng
chan (dang di chfin ru). Luon luon cd them nhung roi loan
co bop ca kieu co cdng ca luc d cfic ca gap ngon tay va ca
vong cung mi Loan tn/ong luc co noy gay kho khan cho
su gian cd, va khi ta go vao nhting ccf bi ton hai thi se
xufit hien nhting vfinh gd co (bourrelet musculaire).

Lfim dien cd ky se thfiy mot dudng bieu do kieu do cd

(type myogene), trong dd ta thfiy nhting tiem nSng thdi
gian ngfin dap manh tting hoi gh£p vdi nhting tiem nfing
cao de tao nhting cdn don dap co luc.

Cdn cd them nhting ddu hieu loan dudng toan thdn nhu
suy giam tam than, roi loan he thong tim, hoi sdm, rung
long va nhat lfi nhting trieu chting ve noi tiet nhu teo tinh
hoan hofic budng trting gay ra liet duong. mat kinh (30%
so trudng hdp).

Due the thuy tinh lfi bieu hien chinh d mfit, va cd trong
phan ldn cac trudng hdp. Doi khi giam thi luc rfit kin dfio,
va can phai kham rat ky bfing sinh hien vi. Md due the

334
thuy tinh d c a h a i ben va nguyen t h u y k h u tru t r o n g c u n g
mot ldp soi, va tien trien theo be mat Du> thuy tinh
kieuVogt the hien bdng nhufng cham trdng doi k h i r a t nho
nhu hat bui, doi khi to hcfn, giong nhu nui b o n g Due c o
nhieu mau sdc: do, luc vang hoac xanh. N h u n g c h a i n due
nay khu tru d mot vung rat m ong cua cac ldp vo ngay dudi
bao trUdc va bao sau, nhan the thuy tinh bao gid cung
nguyen veil.

Cham due kieu F leish er t a o ra d a m md due d vd sau,

mau x a m n h a t . h inh n go i sao. Doi khi d d m md due h inh
sao nay co ca d bao trUdc th e thuy tin h. Cd th e d o n g th di
cd du cfic loai due. Nhurng chd md due day dan vfi kha
nhanh chdng, din tdi due the thuy tinh tofin bQ, trang,
cin phii mo.

Nhting bieu hien phu khdc d m it cua rd'i loan co luc,

cdn cd lift van nhan, sup mi, roi loan quy tu, vfi dong tuf
cudng luc. Teo co quanh hdc m it se gfiy ra trang thfii gia
ldm m it. Lfim dien co ky se thfiy xuat hien nhurng con roi
loan co life (rafales myotoniques). Cdn cd nhurng rd'i loan
dinh dudng gific mac vfi viem bd mi - ket mac man tinh.

Sau cung, cin luu y den su phoi hop vdi nhurng ton
thudng di truyln - thofii hda d day m it nhtf viem vdng
mac sic td' diln hinh hofic khong diln hinh, benh Stargardt
vfi teo thi than kinh.

661. STELLWAG (Dau hieu)

Dau hieu nfiy (Stellwag, 1869) duoc the hien bin g su

nhfiy m it it vfi khong hofin chinh, lfim lo ro them vfi nang

335
them loi nhan cau do roi loan tuyen gifip Trong hoi chtfng
Parkinson, co the thay dau hieu Stellwag gia

662. STEVENS - JOHNSON

(Xem FIESSINGER - RENDU)

663. STILL (Benh)

Benh Still (1897) la mot trong cac trang thfii cua viem
da khdp man tinh d tre em. Benh thap khdp ndng nfiy d
tre em cd kem theo nhurng dau hieu viem d da, hach vfi
lach to.

Bien chiing d m it that dfing so. Chu yeu lfi viem md'ng
mat man tinh nang, d ca hai ben, kilu im fing (type
plastique), gay bit quanh ddng tuf ma doi khi phau thufit
vo hieu qua (mong mfit thuc su gfin chat vao the thuy
tinh). Viem giac mac hinh dai bdng ket hop vdi due the
thuy tinh kieu bien chdng. Cho nen bo ba trieu churng viem
mong mdt, viem giac mac hinh dai bang va due the thuy
tinh la dfic tnmg cho benh Still d mat.

Benh cd the d in den mil 16a, vi luon luon phai de chting

xay ra glocom thuf phat, ton thuong hfic mac hofic teo nhan
cfiu. Benh Still cd nhurng chd giong vdi hoi chting Felty
(xem hoi chdng nay).

664. STILLING
(Xem TURK - STILLING - DUANE)

665. STOCK
(Xem BATTEN - MAYOU)

336
 6 6 6 . STOCKEIt
(Xem MONCRIEF)

667. STRANDBERG
(Xem GRO EN BLAD - STRANDBERG)

6 6 8 . STREIFF
(Xem H AL L E R M A N N - STREIFF)

669. STRUMPELL - MARIE (P.) - BECHTEREW (Benh)

Benh nfiy dugc P.Marie mo ta dudi cai ten viem xtfdng
chau dot song (spondylose rhizom^lique), ngay nay dtfgc
goi la benh viem ctfng khdp song (spondylarthrite anky-
losante) hofic benh viem khdp chau - cpt sdng thap khdp
(pelvispondylite rhumatismale). Cung vdi benh viem da
khdp man tinh dang thfip (polyarthrite chronique rhuma-
toTde), n<5 lfi mQt trong hai bQnh thfii cd dien cua thap
khdp man tinh vidm. Thtfdng hay xfiy ra d nam gidi vfi d
ngtfdi tre (thanh nien va ca thilu nien). Tao ra ctfng lien
khdp dot song tufin tien vfi tien trien len, vdi sdm bi tdn
hai cfic khdp cung - chau. Chup X quang cd tfim quan trong
quyet dinh trong ch£n dofin bQnh d giai doan sau, cufng
lien khdp cung - chau se hofin tofin vfi cdng lien khdp dot
song cung vay, vdi hinh anh cot song nhtf mot que tre

Cf m^t, chu yeu lfi viem mong mdt - the mi (10 den 30%
so trtfdng hgp). Viem mong mfit, doi khi am i, se keo dai
tfii diln, thtfdng d ca hai ben vfi cd the dfin tdi nhtfng bien
chdng nghiem trong nhtf bit quanh ddng tiif, nhfin ap cao
vfi due th i thuy tinh thd phat.

337
 670. S T R U M P E L L

(Xem WESTPHAL - STRUMPELL - BENH WILSON)

671. S TR U M P E LL - L O R R A IN (B en h )

Liet 2 chi dudi co giat va c6 tinh gia dinh Strumpell -

Lorrain tddng tu giong thoai hda di truyen tieu nao nhif
benh Friedreich chdng han. Benh the hien nhi/ mpt liQt
hai chi dudi co giat vfi biet lap, khdi phat d ltia tu6i tr£
thd (4 den 18 thang), dd la dilu khfic bi?t vdi b£nh Little.

Thudng thay c6 teo thi th£n kinh. C6 thi phtfi hdp vdi
thoai hoa tapeto - vong mac chu bien hofic trung tfim.

672. S T U R G E - W E B E R - K R A B B E (Hoi chting)

Hoi chting Sturge (1789), Weber (1922) vfi Krabbe (1934)

dfic trUng cho the bQnh hoan chinh nhat cua u than kinh
- mach nao - mat (neuro - angiomatose encephalo - faciale).
T6n thuong chu yeu lfi mot u mach kieu tinh mach, thudng
d cac mao mach. Ban than u mach dupe tao thanh bdi cfic
mach mfiu mfi thanh mach chi lfi mpt ldp noi mo.

Tinh di truyln cua hoi chting nfiy khong chfic chfin va

con phai ban lufin, mfic dau dfi c6 mot so benh fin cho
thay cd di truyen troi khong dlu.

Ca hai gidi dlu bi, nhat la d vao ltia tuoi tti 10 den 20.

80% so trudng hdp co trieu chting d rnot mfit. va trong

the benh hoan chinh gom co u mach d da, cac dfi'u hieu d
mfit, va u mach d mang nao.

1. U mach d da lfi mot u mach kieu noevus flummeus

cd ngay tti khi mdi de hdfic phat trien d tudi au thd. Day

338
la mot u inach det p h l n g thuang mau do s a m . m a u can
rUUu. Trong mot s o trudng hop thi u chi la n h u r n g cham
gian mao mach nho va tham chi co the that s u n h u nhting
cu loi (tubereux). U khu tru cr nUa mat, vimg phan bo cac
nhanh day than kinh sinh ba, chii yeu la vung day than
kinh mSt Willis. Doi khi u cham vao ca nhUng niem mac
mieng va moi.
2. Dau hi£u of m at thudng la u mach hdc mac hau nhu
luon luon d cuc sau, vung gitia gai thi va hoang diem: u cd
dang mot cham mau xam - t r i n g nhat, hinh dla va khong
s ic to. Thong thuang u khong tien trien, nhung co the ldn
them vfi tham chi' calci hoa, luc dd chup X quang thay
dtfgc.

Glocom la dau hieu quan trong thti hai or m it. Glocom

cung d mot ben va cung phia vdi u mach d mat. Doi khi
glocom tien trien den nhan cau m it trau vdi di dang d
g6c mong - giac mac. NgtfOi ta co neu len nhting gian mao
mach ket mac, thugng rung mac va mong m it.
3. U m ach m a n g n ao, hieu hien lam sang rat da dang:
con dong kinh to&n than hofic tting chd, cdn kich phfit dau
dlu vfi bfin manh, roi loan te liet nhe, liet mot chi vfi liet
ntia ngtfdi. Tr§n cfin ban, dQng kinh vo cfin nfiy thtfdng co
nhting bi£u hien ve rd'i loan tam thin, nhtf tri don hoac
sa sut tri tue that stf. Chup X quang so cho thfiy cu the
nhting chd voi hda trong so; d vung chu bien dtfdi dang
nhting "van dang nfio" (stries cerebriformes), thtfdng hay
cd d vung chfim.

Nhting bien ddi xtfcfng so - mat dtfgc neu len nhu phi
dai khdi xtfdng mat vfi vdm so.

339
 Chup X quang nao bom hch va lam di»>n nao do cho thay
nhufng dau hieu gian tiep teo hoac dau a n a o < hup dpng
mach khong mang lai net dac biet gi ve b e n h n ay
Ben canh the hoan chinh nay (hoi chung Sturge - Weber
- Krabbe), con nhufng the nhe, khong dien hinh. it trieu chufng
nhu khong co glocom (hoi chufng Jahnke, 1930), co glocom vfi
mfit ung thuy sdm (hydrophtalmie) (Hoi chiing Schirmer,
1860), co glocom muon, man tinh mfi nhfin cau khong tfing
the tich (hoi chiing Lawford, 1884) vfi co u mach hfic mac
mfi nhfin cau khong tfing the tich (hoi chting Milles, 1884).

673. SUKER (D£u hieu)

Dau hieu Suker (1917) lfi tinh trang milt khong giuf duoc
dinh thi trong dong tfic mfit liec ngang tot ciing. Dau hieu
nay dugc md ta trong benh ctfdng tuyen giap.

674. SULZBERGER
(Xem BLOCH - SULZBERGER)

675. SWAN (Hoi chiing)

Hoi churng diem mil (Swan, 1947 - 1950) thay c6 trong
mot so the benh dfic biet cua lfic quy tu c6 goc lac co' dinh
ma goc lfic khfich quan nfim gitia 12 vfi 18 do. Nhu vay,
dinh hudng trung tfim cua gai thj mfit lfic tao ra mot stf
trung hgp giufa cham mu cua mfit lac voi vung dinh thj
cua mfit ben kia. Hoi chting nfiy thuong la do vien thi vdi
lech khufi't trie't. Thj gific hai mfit nho do ma hinh nhu
dugc bao ve doi vdi mot su tuong ting vong mac bat binh
thudng hofic mot fim diem trung hoa; do vay, tien lugng
chtic nfing ciia nhting trUOng hgp lfic nfiy tot-

340
 Hoi chufng xuat hien ttf nhien hoac xuat hien sau khi
dupe dieu chinh mot phan bang kinh hoac bang ph£u thuat,
doi khi sau bit m at chong nhugc thi (Hugonnier).

676. SYM O N D S (Hoi chufng)

Hoi chufng Sym onds (1931) tao ra mot hoi chufng tang
ap ltfc noi so tam thcfi trong qua trinh viem tai giufa, gay
dau dau ttfng hoi, phu gai thi tf dong vdi xuat huyet vong
mac va liet tam thdi day than kinh VI (Aimes).

677. TAKAYASHU (BQnh)

Duoc Takashu va Oniski mo td nam 1908 benh "ngtfdi
v6 mach" (homme sans pouls) c6n dtfdc biet dtfdi cai t§n
la hQi chtfng Martorell (1944).
BQnh dtfgc dac trtfng bdi stf tdc nghen dfin dan nhtfng
gdc dQng mach ldn phat sinh ttf quai dong mach chu. Do
dd gfiy ra nhtfng dfi'u hieu ha fip ltfc dong mach vfi thieu
mfiu cuc bo (ischemie) d dfiu, co, vfi khong cd mach dong
mach (pouls art^riel) d chi tren. Thuc chfi't cua loai viem
nQi mac dong mach tdc nghen nay chtfa dtfgc sfing to, do
benh chfi't tao keo hay viem mach mfiu nao khac ( ?). Benh
xuat hien d ngtfdi tre, hay d nti gidi hon.

Doi khi hoi chtfng dtfgc tao nen bdi mot qufi trinh vtfa
dQng mach kinh dien d ngtfdi gia tuoi hon.

341
 Benh canh da dang, co nhung trieu chung nhu nhu< i.ua
dau (migraine), co giat, cdn nhuoc thj kjch phat. con ngat
thoang qua va roi loan dinh dudng a phan tren cd the.
Bieu hien a mdt la chinh va gan chat vdi hoi chung Huyet
ap dong mach ha, dUdc cu the hda bang phudng phnp do
huyet ap d mdt; se gay ra nhung ton hai nghiem trong a
vdng mac cd 2 mdt nhu djch ri va xuat huyet, tinh mach
gian va cong queo, vi phinh mach (microanevrysme), tan
mach, dong va tinh mach chap noi vao nhau, huyet khoi,
teo hac - vong mac hofic viem vong mac tfing sinh, va nhfi't
la teo thj thfin kinh xufi't hien tir tir. Di nhien lfi dien vong
mac do bi suy giam hofic tdt. Giam thi ltfc mdi ddu kin
dao, dfin dan di den mu lofi. Thudng cd dau nhurc d mdt.

Con co nhufng bien chiifng khac d mdt do mach mau kem

dinh duong nhu viem giac mac loan dudng, nhan ap ha,
teo mong mdt vdi rubeosis (*) va due the thuv tinh. Toan
bo nhufng bien chdng nay c6 the gay ra teo nhan cau vdi
trang thai mdt lom.

678. T A N G IE R (Benh)

La benh cua tre em, di truyen theo kieu lep autosom,

dac trung bdi thieu anpha - lipoprotein trong huyet thanh
(J.Robert).

Trieu chdng phdi hdp to amydan, to lach, to gan va c£c

roi loan cam giac - van dong dau chi vdi kha nang mat
phan xa gan va tang albumin dich nao - tuy. Tuy do cho

(*) Rubeosis: co tan mach v& mo lien ket a mat mfl'ng mat. thudng
cd trong benh dai thao.

342
thay co dai thuc bao ngam lipid. Co the uf dong lipid trong
giac mac.

679. TA Y

(Xem HUTCHINSON - TAY)

680. TA Y - SAC H S (Benh)

Benh Tay (1881) va Sachs (1887) tuong tfng vdi the hay
gdp nhat. va dtfgc biet nhieu nhat trong chtfng ngu - mu
gia dinh (idioties amaurotiques familiales); dtfgc dac trtfng
bdi stf tich tu glycolipid (benh tf gangliosit: gangliosidose)
x§m Ian cdc te bao hach cua mo thdn kinh gfiy ra stf huy
myelin vfi tfing sinh te bfio thin kinh dQm (gliose). Lipid
tham vao vong mac chu yeu la or vung hofing di£m vfi nhfim
vfio cfic te bfio hach, gfiy thofii h6a teo thi than kinh. Ttf
lau, ngtfdi ta dfi biet tinh chat gia dinh cua benh Tay -
Sachs. Di truyen theo kieu l£p autosom vdi do tham nhfip
ho&n tofin vfi dong thi hofin chinh (homochronie parfaite).
Thtfdng bo' me cung huyet thong. Cdn thfiy cd di truyen
theo kieu khfic nhtf di truyen troi khong deu, nhtfng hiem.
Cdn ltfu y den anh htforng cua n6i giong doi vdi b£nh nfiy,
thfiy nhieu hdn d giong ngtfdi Israel (60 den 80% so trtfcfng
hgp).

Trieu chtfng xuat hien trong nfim dau va din den til
vong vao khocing 2 - 3 tuoi trong mot benh canh co roi
loan thdn kinh vfi mfit.

• Bieu hi£n than kinh, chia lfim 3 giai doan, bieu lo

bdng nhtfng dfiu hieu suy sut tfim thdn ngay cfing nang
nhtf thd d, vo cam roi sau do la ngu muoi va suy sup ddn

343
dan. Mdi ddu diia be co tinh trang nhUdc truung luc C(J>
sau do la nhufng trieu chufng cua tang trudng luc dac trUng
vdi co cUng, nhUng cdn co that, tang thinh li/c va cUng dd
mat nao (rigidite de dec6 rebrat ion)

- Cac triQu chtfng or mfit tien trien song song vdi

trieu chung than kinh. Trang thai dac trung la sir thodi
h6a trung tam vong mac d ca 2 mfit, chfim do anh ddo"
kinh dien cua vung hodng diem dudi dang mot 6 mfiu xfim
- trfing nhat vdi d giufa la fovea do. Dfiy lfi hinh anh cua
mot su doi lap: d giufa la fovea vfin binh thirdng xung quanh
lfi mot vdng tham lau lipid; chu bien vong mac vfi mach
mfiu binh thirdng. Trong khi dd thi teo thi th in kinh xufi't
hien tU td dan den mu. Dien vong mac do it ton hai hodc
binh thudng.

Cdn gop vao trong hoi chdng rong ldn cac chdng ngu -
mu benh thoai hda Norman - Wood va benh Farber.

681. T A Y B I

(Xem RUBINSTEIN - TAYBI)

682. T E M P L E

(Xem DEJEAN - TEMPLE)

683. T E R R IE N (Benh)

Benh Terrien (1900) hay Id gian phinh vung bd gific

mac, la mot the loai hiem thay ciia loan dudng giac mac
d vung sat ria. Benh cd ve xay ra hdi nhieu han mot it d
nam gidi, va d bfi't ky Ida tuoi nfid.

344
 Trong thai gian dai khong thay co cac trieu chufng ca
ndng va ve sau thi lire giam la do loan thi, va loan thi nay
ngay cang trd thanh kho chufa han.
Tfin thuang d giac mac, co the khdm thay ro bdng sinh
hien vi, se lam cho vung chu bien of ngay ria gidc mac bi
mong theo kieu khu tru hodc toa lan vai tan mach d tren
be mdt. Ve sau, xuat hien gian phinh of bd giac mac, vd
duoc gidi han vdi phdn lanh gidc mac con lai bdng mot
dtfdng ke md due.
Sir mong vd gian phinh gidc mac tien trien ddn, cdc
bien chufng c6 the xuat hifn dinh mdt trtfdc mong mdt,
ph6i mong m it tir tir vd ket vdo chd phinh gian. Bien co
ddng so nhd't la thung gidc mac mQt cdch ttf nhi@n hodc
do m$t chfi'n thtfong nho.
BQnh ti£n trien rdt chfim ttf 10 den 30 ndm. X6t nghiem
m6 benh hoc cho thfiy thodi hda tfi't cd cdc ldp vd mdng
cua gidc mac md khong cd mQt ddc diem gi cu th£.
Nguon gdc cua loai loan dtfdng ky di ndy hodn todn
khong bi£t. Benh Terrien khong ttfong tfng vdi mQt b€nh
truyln nhiim ndo vd biet Ifip v i mdt lfim sdng.
Diiu tri chu y£'u bdng ghep gidc mac chu bien, gh£p
mdng hodc thung khi thfiy gian phinh de doa.

684. TERRY (B#nh)

BQnh Terry (1942) hay benh xo san sau the thuy tinh
(fibroplasie r^trolentale) Id benh d vdng mac cua tre em
de non, thtfdng dfin den mil loa. Benh co ve nhtf duoc bd
tro th^m bdi stf sir dung qua nhieu oxy d nhtfng tre de non
nuoi bdng long dp. Oxy lieu phdp manh ket hop vdi de

345
thieu nhieu thang (thang thti 6 va thu 7 . can n a n g dUOi 2
kg khi mdi sinh) se gay ra sir hoi phuc kha n a n g tham
hut va sU tdng sinh ciia cac mach mau phdi thai da teo 0
vung ora serrata.
Trieu chUng d ca 2 mfit, va ca hai gidi nam va nU deu
bj. Khong bao gid nhting tdn hai dau tien xuat hi£n ngay
khi mdi de. Bao gid cung cd mot thdi gian tti 2 din 3 tuan
dfiy mfit vfin binh thudng.
Khi khfim, can phai lam gifin ddng tuf tot, vi nhurng dfi'u
hieu dfiu tien la d vung chu bien vfi tao ra mqt trang thfii
u mach, phu ne vfi xuat huyet. Mach mfiu vong mac cd ve
bien doi: dong mach mfinh d£, ngo&n ngofco, cdn tinh mach
thi gian nd. Ve sau, xufit hien chay mfiu, vfi tan mach gay
phu vong mac khu tru. Cho den giai doan nay, cfic ton
thtidng co the thofii trien. Tuy nhien, d nhting the nfng
thi vong mac vfi dich kinh tiep tuc to chtic hda. Giai doan
cuoi cung la phan ting cua mo dem than kinh vong mac
gfiy bong vdng mac hofin tofin, vong mac bi gap lai vfi roi
loan td chtic, ddi khi cham den ca the thuy tinh (dang gia
gliom). Mfit thtidng bi nho lai vfi tiin phdng hep; mong
mfit teo vfi se phfit trien nhting cho dinh ddng tti. Tien
trien ve sau se den teo nhfin cau; tuy nhien ngtidi ta co
noi tdi glocom thti phfit.

Benh tien trien khfi manh, tti vai tufin den vai thang
Cfin ltiu y den tdn hai dien vdng mac xay ra sdm.

Cd nhting the thofii trien cua benh duoc neu len nhti
nep gap di chting vong mac vdi gai thi meo md. dfim due
cuc bo sau the thuy tinh vfi he mach mfiu gian mong.
Thtidng ket hop can thi so cao.

346
 Bo nil Terry da giam hot mot cach ro ret tir ngay thac
hien bien phap da phong, dac biet ve mat sa dung oxy
lieu phap, chi dung oxy khi co yeu c£u va vdi lieu lagng
thap dudi 30%. Tuy nhien, benh vong mac dang sg nay
can phai dugc theo doi co he thong va dlu dan cho nhtfng
tre de non.

685. T E R S O N (Hoi chdng)

Hoi chdng Terson (1926) hay l i hoi chdng xuat huyet

mat - nao. xay ra khi co tai bien do phinh mach noi so.
Chay mau mang nao dtidi - m ang nhen kem theo chay mau
trong dich kinh va vong mac, chu yeu d cic tinh mach cua
vong mac. Benh canh lam sin g n iy thudng thdy d nam
gidi han.

686. THIER
(Xem WEYERS THIER)

687. THIES (Ddu hiQu)

Ddu hifu ndy bieu hiQn co dong tuf giao cdm xufi't phdt
tif phdn xa trong nhtfng b|nh viem ruot thdng - sigma.

688. THOMSEN (BQnh)

Loan tnftmg luc cd bdm sinh hoic bfnh Thomsen (1876)
li loan dudng cc di truyen - gia dinh, be ngoai giong benh
Steinert. BQnh rdt hiem; di truyen theo kieu troi.
Cdc tri?u chdtig ddu tiin xudt hien d tuoi tre em; roi
loan trtiang luc ca la chu yfeu, vdi die diem Id cham v i
mupn trong dQng tdc dudi co theo y muon v i doi khi theo
tu dgng. Trdi ngugc voi benh Steinert, d benh ndy khong

347
c6 teo ca va tham chi thudng hay co phi dai ca Sau tung
la loan truong ltic ca niy xay ra biet lap va khong kem
theo cac roi loan noi tiet cung nhu roi loan tam than.

Diu hieu d m it it hing dinh hon trong benh Steinert

v i dac biet l i khong bao giO cd due the thuy tinh. Chi c6
nhufng bieu hien 0 m it do loan trtidng ltic co nhu dong tic
cua m it cham v i muQn, sup mi v i doi khi co con kich phit
co giat mi m it. BQnh on dinh trong suot ca ddi ngtiOi.

689. T H Y G E S O N (Viem g iic mac)

Duoc Thygeson mo t i n im 1950, loai viem giic mac

n iy tuong ting vOi m§t viim g iic mac d 2 m it kilu chi'm
nong, a ldp bieu mo v i cic ldp giic mac ke can vdi ming
Bowmann. Soi sinh hien vi th iy yeu to cham duac tao nen
bdi sti tu tap nhting hat nho m iu trin g nhat; khoang giufa
nhufng yeu to cham phan bo khong deu l i phan giic mac
hoin toin binh thudng. Sau giai doan benh hinh thinh
mot cach dti doi vdi cic trieu chting so anh sin g, chay
nude m it thi benh viem giic mac cham dudi bieu mo niy
xuat hien, v i cic tdn thuang bien di sau v ii ba tuin 11.
Nhting dot viem t ii p h it lim nay sinh nhting cham khic.
Do vay m i loai viem giic mac chim nky, tien trien theo
kieu man tinh, tham chi den 1 hoic 2 n im . Tuy nhien
benh se khoi m i khong de lai di chting.

Can n hin manh den hieu qui dieu tri cua thuoc corticoid
cd the lim lui nhting con dau t ii dien. Do doi khi benh cd
tinh chat dich t i v i sti phin bd theo dia ly nao dd m i
ngudi ta nghl rkng dd l i m0t biiu hifn cd nguon gdc virus
hoic di ting (Qudri).

348
 690. TILLING - WERNICKE (Hoi chung
Hoi churng Tilling (1874) va W e r n i c k e (1889) itiung ling
vdi m o t liet van nhan gia - hanh (ophtalm oplegie
pseudobulbaire) hoac gia - nhan ( p s e u d o n u c l e a i r e ) d o t o n
thuong nao vung tam than - van dong (phan sau cua F2>.
Ve lam sang, hoi chUng tao ra sU te liet cac dong tac nhin
theo y muon trong tat ca cac hudng. Thudng cd l i e t theo
y muon cac day than kinh mat, day than kinh sinh ba va
day than kinh ha thiet (liet hai ben mat - ludi - hau -
nhai).

691. TOLOSA - HUNT (Liet van nhan dau nhtic)

Lift van nhan dau nhtic Tolosa (1954) va Hunt (1961)

la m ft noi dung da dtioc Saraux nghien ctiu vfi ddng gop
them 2 bfnh An mdi.

Dfiy la mot hfi chting k ft hop cfic lift van nhan, cd the
d dfiy thin kinh III, IV hofic VI vdi nhting hifn ttiong dau
nhtic dti doi d phia sau nhan ciu. Dau nhtic di theo sau
hofic xfiy ra trtidc lift ma nhting lift nfiy thtic sti d tren
cung mpt bfnh nhfin cd the thay doi tuy theo cfic con.

Tfit nhiin lfi cfic khfim nghif m ve X quang thfin kinh

phdi gat bo mot phinh dfng mach cfinh hofic moi sti chin
ep khfic.

Hifu qua dac bift cua thuoc coctioid thtic sti lfi mot test
chan dofin - lfim cho ta nghl tdi mot bfnh chat tao keo
kin dfio. Theo ket qua xet nghiem giai phfiu cua Tolosa thi
hf i chting nfiy cd the do sti tham lau hat xung quanh dong
mach cfinh trong d xoang hang.

349
 692. TONI (DE) - DEBRE - FANCONI (Hyi chung)
Hoi chting De Toni (1933), Debre (19341 va hanconi
(1936) rat gan vdi hoi chting Lignac - Fanconi iloan dtidng
xystin) va hoi chting Lowe.
Day la mot benh cua dng than rat phtic tap. dtipc dfic
trting bdi chting lun than (nanisme renal) d tre em, xfiy
ra rat sdm vdi nhting dau hifu ciia bfnh coi xtiong do thidu
phosphat trong mfiu.

Benh d than gfiy ra albumin nieu, tfing acid amin nifu

va glucose nieu vdi giam calci mfiu.

Mot so bieu hifn 6 m it dtipc neu len nhti m it trfiu,

benh vong mac sfic to va due the thuy tinh bam sinh. Hoi
chting nay di truyen theo kieu lep dun thuan

693. TOULANT (Viem tuyen le)

Nfim 1947, Toulant va cong tac vien co mo tfi mot vu
dich d Angieri ve viem tuyen le cfip nguyen phat chi xay
ra d ngudi Au khoang gitia 12 den 53 tuoi.

Loai viem tuyen If nfiy d mot m it vfi co kem theo tdn

hai nhe toan the trang; cfic trtidng hop deu khdi. Cfin ltiu
y den sti tang bach cfiu tia eosin trong mfiu la mpt quy
luat.

Tinh chat dich te khong phai do nguon goc quai bi nay

hinh nhti van cd ban chat do virus.

694. TOURAINE - SOLENTE - GOLE (Hoi chting)

Chting dfiy da - mang xtiong Touraine, Solente va Gole
(1935) (pachydermoperiostose) lfi mpt bfnh thupc h f thdng

350
trung mo gay day cac binh dien da va xUdng, a mat, trail,
lam cho cac d lu chi cd ve phi dai, ngdn tay va ngdn chan
nhu hinh dui trong (hippocratisme) (giong benh phi dai
xi/dng - khdp P. Marie). Trieu chufng xuat hien ngay tif tuoi
thanh nien va hay d nam gidi hon. Di truyen theo kieu
troi hoac lep.
Day ldp da d mi mat, d sun mi lam cho mi cd ve stfng
hup va sa xe xuong.

695. TOURAINE
(Xem PEUTZ - TOURAINE)

696. TOURNAY
(Xem CLAUDE BERNARD - HORNER)

697. TRANTAS (Hat)

Tieu the hofic hat Trantas (1910) tuong ting vdi nhting
nang u nhd vfi to chtic xui d ria gific mac xay ra trong
bfnh viem ket mac mua xufin.

698. TRAQUAIR (Am diem noi)

Am diem ndi (scotome de jonction) bieu thi mot ton
thuong d trUdc giao thoa, d ngay cho noi tiep giao thoa -
thi thin kinh. Chen ep vfio "cho noi" cua thi thfin kinh se
gay ton hai cho thi trudng phia thai duong cung ben do
ton thuong phia trong, hoac neu tdn thuong d phia ngoai
thi se gay tdn hai cho thi trUOng phia mui. d mfit ben kia,
do goi qufit nguoc (genou recurrent) cua cac soti than kinh
phia mui mfi bieu hien bfing fim diem goc tu (quadrant)
phia thfii duong.

351
 NhCfng ton hai thi trtfdng nav se dan d^n ban inanh
hai thai ducrng.

699. T R E A C H E R - C O LLIN S

(Xem F RAN CESCH ET TI - ZW A H L E N )

700. T R E N A U N A Y

(Xem KLIPPEL - TRENAUNAY)

701. TU R C K

(Xem EHRLICH - TURCK)

702. TURK - S T IL L IN G - D U A N E (Hpi chting)

Do Turk va Stilling mo ta trtfdc, nilm 1896, roi den

Duane nam 1905, hoi chung co rut nhan cau nay rat co
dien.

Trieu chiing thtfdng co mot mfit, duoc dfic trUng bdi stf
han che van nhan ra phia ngoai, nhan cau 16m vdi khe
mi thu hep khi dua mfit vao phia trong, do do khi mfit dua
vao phia trong thi nhan cau co rut lai doi khi kha nhieu
va cung co ca dong tac nhan cau dua len tren, hoSc dua
xuong dudi.

Co tu the veo cd do mfit (torticolis oculaire), dfiu quay

v i phia tdn thtfcrng. Tinh trang thi giac hai mfit (vision
binoculaire) rat thay ddi, nhung thudng van con yeu td
nhin hai mfit d mot hudng nhin nfio do. Bieu dd Hess -
Lancaster rfit dfic trUng.

Sinh benh hoc cua hQi chting nfiy cd the la do su xd

hda (fibrose) cua cd th in g ngoai, dilu nfiy giai thich tinh

352
trang bni nhtfoc cua van nhan ra phia ngoai v a nhan cau
co rut khi cd gdng van nhan vao phia trong. Tren nhurng
con mdt nhi/ the elide hdn la co nhieu s a x a h o a va di
dang ca - day chang.
Hoi churng co rut nay doi khi co tinh gia dinh, kieu di
truyen chtfa ro. Cdn ltfu y la ntf gidi hay bi hern va thtfdng
thay khu tru 0 mdt trai hcfn.

703. TUR N ER

(Xem BONNEVIE - ULLRICH - TURN ER)

u
704. ULLRICH - FEICHTIGER (Hoi chting)

H$i chting Ullrich (1951) va Feichtiger duoc biet vdi cdi

tfin loan san xtfcmg so - qufii thai - ngdn (dyscr&nio - pygo
- phalangie) (the loai Rostockiensis).

Trifu chting gom c6:

- Di dang so mat nhu dau ngon hinh thap hoac ddu ngdn,
mui ngdn va rong be ra, tai ngoai di hinh va ham r&ng be;

- Di dang b6 xticmg nh&m vao cac ddu ngon tay, nhieu

ng6n, ntit ddt xtfcmg sdng (spina bifida);

• T6n hai phu tang d nhieu noi, benh da u nang (maladie

polykystique) va di dang co quan sinh due.

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 Cuoi cung la nhirng bieu hien o mat nha khi ini hep
va nhat la nhCfng di dang quan trong nhtf k h on g co nhan
cau, nhan cau be va khuyet tat (colobom e)

705. ULLRICH
(Xem BONNEVIE - U LLR ICH i

706. ULLRICH
(Xem MORQUIO - ULLRICH)

707. ULLRICH VA FREMEREY - DOHNA

(Xem FRANgOIS J. - LOAN PHAT XUONG DAU)

708. UNVERRICHT - LAFORA (Benh)

Benh co rung cd co tinh gia dinh (m yoclonie familiale)
Unverricht (1891) va Lafora (1911) the hien bfing stf tham
lau acid mucopolysaccarit vao thfin kinh vfi vong mac. Bfnh
ve roi loan chuyen hoa nfiy gfiy nhtfng roi loan dpng kinh
van dong, rung ca tfin man va sau cung lfi ttf vong trong
mot hoi churng sa sut tri tue, lift nhieu noi vfi mu loa.
Trifu chting hoc 1q 6 vao khoang 10 tuoi. Ngudi ta c6 n6i
den su tham base (impregnation basophile) vfio cfic ldp
hach va ldp nhfin trong cua vdng mac.

709. URBACH - WIETHE (Benh)

Bfnh Urbach - Wiethe (1929) hay lfi bfnh tich Lipopro­

tein (lipoproteinose) lfi mot bfnh roi loan chuyen hda hiem
thfiy, xay ra d ngudi tre. Bfnh nfiy gfiy tham lau a da vfi
niem mac (hyalinosis cutis et mucosae) bdi nhting chat
ngtmg dong lipid ngofii te bfio ket hop vdi nhting chat

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protein. Theo Urbach thi do la sir roi loan chuyen hoa lipid
nhir phospholipid va dac biet la lexitin. Benh co tinh di
truyln va gia dinh, truyen theo kieu lep.
Trieu churng chu yeu la a da: tham lau not mau vang
nhat va ton thirong tang sdng hda. Tdn thtfcfng niem mac
thi thtfdng a niem mac m ieng va niem mac hau - thanh
quan, gay nen nhurng con kho thd va khd phat am. Thtfc
te la niem mac bi day len do tham lau lipid mau trang -
vang nhat, cd the con bieu hien khac nhu bat binh thudng
ve r&ng va xuat hien dai thao.
Tdn hai or mfit chu yeu la nhCfng not or mi va niem mac.
Ngudi ta c6 noi den nhufng the keo (corps colloi'des) d dfiy
mfit tao nen mot stf thofii h6a kinh d ctfc sau.

710. URRETS - ZAVALIA

(Xem FRANCESCHETTI - ZWAHLEN)

711. USHER (Hoi chdng)

Hoi chiing Usher (1914) la mot thofii hoa vong mac sfic
td phdi hcfp vdi diec tiep nhan (surdite de perception) (xem
hpi chdng Cockayne vfi Hallgren).
Benh di truyln theo kieu 16p autosom, vfi cfic trieu chdng
da thfiy xufi't hien ngay d tre it tuoi.

1. Thoai hda v on g mac kieu sfic td va toa lan, kieu

sfic td khdng dien hinh "tieu mudi" hofic tdng hon. Dien
vong mac do tfit ngam hofic giam, cho phep chfin doan ra
benh trUdc khi cd bieu hien sfic td xay ra muon hon. Tdn
hai thi gific, giam thi life, tdn hai thi trudng vfi quang ga
lfi hau qua cua moi thofii hoa vong mac sfic td.

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 2. D iec, co ca cam hoac khong cam. la mot <11 c tiep
nhan d ca hai ben va can xung, tren mpt am giai co Lan
so rong Cudng do diec thay doi, doi khi chi phat h ifn
dugc bang phuang phap do thinh luc, su suy giam thinh
giac thay ro han vdi nhUng tfin so cao.
NhCfng cong trinh nghien cdu cua Vien cam - diec vfi
nghien cufu ve diec ciia cac Vien ngudi mu da cho hay cd
khoang 8% phdi hap diec vdi viem vong mac sfic to.
Hien nay, trUdc moi tdn hai ve difn vong mac vfi do
thinh giac phoi hap vdi nhau thi phfii nghl dfin mpt the
tien lfim sfing lu md cua hpi churng Usher.

712. UYEMURA (H6 i chtfngl

Hoi churng thieu vitamin A do Uyemura mo ta (1928;
gom nhieu cham mau trfing - vang nhat a chu bien vong
mac, nhufng bieu hifn cua qufing ga vfi cua ban phfin trUdc
(cham Bitot va kho mfit). Dieu tri cfin ban bang vitamin
A se lfim tieu bien het nhurng bieu hifn nav.

713. VAQUEZ (Benh)

Tfing hdng cau vo can (polyglobulie essentiellej hay la
benh Vaquez (1892) xay ra a ngudi ldn. Trifu chufng ndi
bat nhat la mau da va tim tfii mat, do da (erythrose); cd
phdi hap lach to va hay dau nhtic d cac dfiu chi Xet nghifm
mau cho thay tfing hdng cau manh (7 den 8 trifu). Bfnh

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tien trien rat cham nhung hay gay ra nhufng bien chufng
nhu xuat huyet, huyet khoi, viem tinh mach va ton thtfcrng
nao.
TSng do nhdt trong mau di theo vdi tang huyet ap se
gay viem vdng mac tdng h on g cdu (retinite polycyther-
mique) d ca hai mat, thuc su- la m ot tim tai cua vong mac
vdi tinh trang vong mac co mau xanh da den (bleu ardoise);
tinh mach gian ra va rat ngo&n ngoeo, dong mach cung
slm mau hcfn va gian rong hcfn binh thudng. Ngudi ta thay
ap li/c dong mach vong m ac tang. Co the xay ra nhufng
bien chiing nhu phu gai, xuat huyet vong mac va huyet
khdi tinh mach vong mac. Doi khi bi teo thi than kinh do
tic nghen dong mach, do viem thi thin kinh hau nhan
ciu hoac do viem gai thi. Cung c6 thdy c6 cd lift v§n nhan
do tdn thuang nao.

714. V IL L A R E T (Tam chiing)

Su phdi hop m ft con m i t g i i (m it da bi kho£t b6 trUdc)

vdi mpt gan to va h ie to' nieu (m^lanurie) tao thdnh bp ba
trifu churng n6i len sU lan trdn di can cua ung thu h ie td
mang bd dao.

715. V IL L A R E T (H fi chiing)

H fi chiing Villaret (1916) hay hoi chiing khoang sau

tuyen mang tai sau bieu thi tdn thuong cua 4 doi day than
kinh so cuoi cung la day th in kinh ludi - hdu, ddy than
kinh phe - vi, ddy than kinh tuy sdng va day than kinh ha
thift (thuc su lift nijfa ngudi vbm - thanh quan - hau vd mot
b#n vai). C6 th i th§m vdo nhdm lift ndy dd'u hifu Claude
Bernard - Horner d m it cung phia do tdn thuong giao cam cd.

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 716. VIN C E N T

(Xem BRAULT - VINCENT)

717. VO G T - K O Y A N A G H I (Benh)

Benh Vogt (1906) vd Koyanaghi (1929) co ve giong bfnh

Harada vd chi khdc bdi cdc trieu chiing 6 m it ma chu yeu
la viem mang bo dao - mang nao mil cfin nguyen c6 the
la do virus.

T rifu chiing xuat h ifn nh ilu nhat lit d ngudi tr f tudi;

thudng d nur gidi, vd gom cd:

1. Cac d au h if u of m i t biiu hifn b&ng mot viem m&ng

bo dao trUdc, xuat hifn sdm, d ca hai m it va co xu hudng
rat im ing. Gay dinh quanh ddng tu r it chic va kh6 dieu
tri, ke ca bin g phau thuat. Gay due the thuy tinh la thong
thudng. Cdc trifu chiing cua viem mong m it can trd soi
day m it; cung nhu trong bfnh Harada, ngudi ta cd mo ta
viem h^c - vong mac dich ri va thanh dich vdi v in due
dich kinh.

2. Ton thtfcfng nao - mang nao. Hoi chdng th in kinh

thudng lu md, cd dau dau it nhilu, cdng co nhe va cd phan
dng te bao d nUdc nao - tuy. Tdn hai difn nao dd cung it.

Giam thinh luc Id trifu chdng thudng thay hem vd duoc

phat hifn chu yeu bin g thinh luc do (diec thu nhan ddi
vdi nhufng t in so cao).

3. HQi chtfng d da. Cf day nufa, bfnh Vogt - Koyanaghi

cung giong bfnh Harada. NgtfOi ta ndi den chiing rung long
tdc, bac long mi, long may vd long, ttfng dam tdc bac.

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NhCfng ton thuong cua bach bien (lang trdng) gay ra tung
dam da mat sfic to dac biet hay a mat va vung hoc mat.
Tien trien ban cap va tai phat cua viem mong mat co
the gay nhufng bien churng dang so; glocom thuf phat hoac
nhan ap thap doi khi din tdi su h6n loan thuc su cua nhan
cau.

718. VOGT (S P IE L M E Y E R - VOGT - STOCK)

(Xem BATTEN - MAYOU)

719. VO G T (Glocom do bao the thuy tinh)

Su trdc mdnh do lao hod (Exfoliation sdnile) bao the

thuy tinh vdi nhan dp cao da duoc Vogt nghign ctiu (1925).
Quan nif m hifn nay v i hQi chting nay c6 khdc bdi vi dang
"suong muoi" (aspect de "givrage") cua bao th i thu£ tinh
tuong ting vdi nhting ton hai thodi hod cd tinh chd't cua
mdng bo ddo vdi teo mong mdt.

Bfnh d hai mdt, ngudi gid bi vd thudng cd ve nhu cd

*JESe .
tinh gia dinh \k ndi giong .

Soi sinh hien vi cho thdy, dang "stfong muoi” cua bd

quanh ddng tti nhtf th i nhting hat trdng nhd. Cdn phdi
khdm bdng dng sdng chig'u tti ben vdo vd soi xuyen de tim
nhting dau hieu teo mong mdt.

Gian dong tti cho ph6p nhin thdy nhting chat dong d
bao trudc the thuy tinh (gid trdc manh) tao ra tinh trang
thuc stf nhu bot cua oc sen.

Nhting phdn tti cua mdng bo ddo cung cd th i phdn tdn

ra, gdy hifn ttfong Tyndall d thuy dich, tao nen nhting

359
chat dpng sau mang Descemet, va nhCfng chat dong d goc
mong - giac mac va a day treo Zinn.
C in luu y den nhufng ket hop benh ly rat thuong gap;
mot mat la bfnh glocom, duoc Vogt mo ta va goi la glocom
do bao the thuy tinh" (glaucome capsulaire) tien trien theo
kieu man tinh va tham lang; mat khac la due the thuy
tinh theo kieu thong thudng, due vo hay due nh&n trung
tam. Tinh chat m lnh d£ cua day treo Zinn v i nhCfng dau
hieu kin dao cua ban lfch the thuy tinh ddi hoi phli r lt
than trong trong khi tien hanh phiu thuat glocom va thi
thuy tinh.

720. VOGT (Due t h i thuy tinh rtft n it)

Due the thuy tinh ruft nat (cataracte dilaceree) do Vogt

mo ta (1922) it can tror thi luc; n6 bao gom nhurng cho due
kieu bam sinh, rat da dang. Due khu tni of ldp sau cua
nhan trudng thanh va ldp nong cua nhan phoi thai. Kham
blng sinh hien vi thay nhurng ch6 due da duoc mo ta nhu
dam reu, nhu nhurng manh xo'p c6 bO nham nhd, hoac thSm
chi nhu nhurng con ca vang trong b l ca (Paul Bonnet).

Doi khi them vao due the thuy tinh nky cdn c6 nhurng
dam due blm sinh nhu due hinh sao hoSc hinh vdng hoa.
Due th i thuy tinh rift nat Vogt thuOng hai m it nhung e6
the chi a mot m it.

721. VOGT (Tholi hoa ria)

Thoai hoa ria theo hinh vanh dai tring (Vogt, 1930) da
la noi dung cua mQt cdng trinh nghien curu xuat sic cua
Michel Collier (1961).

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 Loai thoai hoa giac mac nay xuat hien or ngudi gia tren
40 tuoi; the hien bang nhufng ket the voi mau trdng nhat
phan bo can doi tren hai mat a dien khe mi, ve phia na,
dudi ldp bieu mo giac mac. Co mot khoang trong sang
ngdn cdch giua vung due hinh vanh dai vcfi ria. Benh gui len
hinh anh cua mot viem giac mac dai bang mdi khdi phat.

Loan dudng quanh ria giac mac do lao hoa khong gay
hau qua ve mat chiJc nang va benh ly.

722. VO G T (Dau hieu)

Dau hieu Vogt (1922) tuong ufng vdi sU bien doi mat
cong cua bao trudc the thuy tinh; doi difn vdi nhufng chd
due bsim sinh d mat trudc thd thuy tinh (Duke - Elder).

723. V O G T (Cornea farinata)

• . ’ . J "' ~

Bfnh cornea farinata Vogt (1923) duoc die trung bdi

nhufng chd md due nhS m&u tring hoac trin g - x im nhat
d ldp sau cua nhu m6 giic mac, vung trudc m ing D esc e-
met. C6 th i day l i mot loan dudng giac mac do lio hoi
nhung cin cur v io m ft v ii bfnh an gia dinh, ngudi ta da
sdp xep no vio loai loan dudng giic mac di truyln.

724. V O S S IU S (Due t h i thuy tinh)

Due th f thuy tinh hinh vdng Vossius (1903) tuong dng

vdi mot vong s ic to'd bao trUdc the thuy tinh. Md due sic
to nay xay ra sau mot dung dip vao m it, va do su tham
ngim cua bd ddng tuf vao m it trudc the thuy tinh.

Due th£ thuy tinh hinh vdng sau dung dap thudng xay
ra d ngudi t r f ; no cd xu hudng m it dan sau it thang.

361
 725. VO SSIU S ( V i f ’ i n g i a c m a c hinh \ n.:

V i e m g u ic m a c h i n h v o n g V o s s i u s t a o r,i st- ( ' ^ () 111(1

d u e cl s a u . l a d i c h u f n g c u a v i e m g i a c m a c n h u 111 H u t c h i n s o n .
Killing cho due duoc goi la theo hinh vang v) chung sAp
xep theo hinh vong tron, d giUa la nhung nhanh mach mdu
da bi tac nghen di tir ria vao. Do do ma co nhung dam due
theo hinh "la co" ("feuille de palmier") dac trung

726. V R O LIK (Xem L O BSTEIN )

w
727. W A A R D E N B U R G - JO N K E R S

(Loan duOng giac mac)

Loan dudng giac mac Waardenburg - Jonkers (1961) gay
nhiing cho md due rat sdm, hinh bdng tuyet, d ldp trudc
cua nhu md. Loan dudng giac mac nay di truyen theo kieu
troi va it gay hau qua chufc nang.

728. W A A R D E N B U R G - K L E IN (Hpi churng)

Hoi churng duoc Waardenburg (1947) va Klein (1947 -

1950) md ta la mot tap hop nhieu di dang, da duoc xac
dinh rat ro. Trieu churng doc dao:

- Diem le vd 'goc trong mi bi xe dich ngang vdi tid'u

quan le keo ddi ra. Loan dudng diem If n£y gay ra tinh
trang gia hep khe mi, nep quat gdc trong m it (6picanthus)

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va gay cam giac nha bi lac quy tu. Mi tren ru xuong mi
dtfdi d doan gdc trong. Do dd gay dinh bd mi a phia trong
vd thtfong hay che lap vung num le.
- Tdng san gdc mui, mat gdc mui - tran va long may
ram d 1/3 trong; long may thirdng giao tu lai d dtfdng giufa
trdn (synophris).
- Di sdc m dng mdt kieu bdm sinh, toan bo hoac tdng
vung. Soi kinh hien vi khong thay m ot ton hai nao cua
mong mdt.
- Bach tang cu c bo d tdc (ddm tdc bac d tran).
- Dii'c bdm sinh gay ra cam tuy theo diec sau, sdm va
d ca hai ben. Day la diec tiep nhan, dnh hudng chu yeu
doi vdi nhufng am thanh tin so' cao. Loai diec nay do co
quan Corti bi ngtfng phdt trien khd ndng, cd dfic diem la
khong tifin trien.
Diiu tra ve di truyln cho thdy h fi churng ndy cd tinh
di truyen vd di truyln theo kilu trfi, khong deu vdi do
thfim nhdp khdc nhau. Cd hai gidi nam nOr deu bi vdi ty
If nhu nhau. Lac chd gdc m it vd diec Id nhufng trifu churng
thudng thdy duoc truyln lai nhd't.

729. WAARDENBURG - VOGT

(Xem APERT)

730. WACHENDORF (Mdng)

Mdng Wachendorf Id mo trung bi md v l phoi thai se

khai sinh ra, phia sau Id nhu mo mdng mdt va phia trudc
Id nhu md gidc mac. Tdn luu mdng Wachendorf thudng
thdy d ngudi ldn, ma binh thudng tao tdc phdi thai ndy

363
dang le bien mat v&o thang thii 7 cua thai Tuv nhien,
mang nay co the tieu bien khong hoan toan. va de lai
nhUng soi c h i n g d ddng tuf. Ton luu nay kha hay gap va
kham bang den khe rat de thay chung duoi d o n g nhufng
soi day nho it nhieu co sdc to, di tU uhu md m o n g d ngay
chd vong nho cua m ong mdt den bao trudc cua the thuy
tinh; d day co the co nhufng cho md due b dm sinh d cifc
trudc bao. Ngay ca d mat bao trudc, ton luu mang dong ttf
doi khi cung tao ra kha nhieu nhufng dam sdc to nho hinh
sao hoac hinh mang nhfn.

Ddu sao cung cdn phai dtit khoat phan b ift nhufng ton
luu mang Wachendorf vdi nhting tdn thuong ket dong cua
viem m ong mdt hoac vdi dinh m ong mdt - the thuy tinh.
Han htiu, ton luu m ang dong tti mdi gay trd ngai cho thi
luc hoac cho van d on g cua dong tuf.

731. W A G N E R (Loan dudng dich kinh - vong mac)

Thoai hoa dich kinh - vdng mac Wagner '1 9 3 8 ) la mot

loan dudng cua cUc sau xay ra d ca hai gidi va di truyen
theo kieu autosom trfi.

Trieu chting duoc bieu hifn bdng sti pha huy mang ludi
dich kinh cd ve nhu bien thanh ntidc, dich kinh bj bong
ra va 16 chd nhu ctia so (aspect fen#tr6). Soi day mdt, nhat
la d vung xich dao, thay nhting mang mau trdng nhat d
ddng trudc vdng mac c6 chtia nhting dam sdc to va nhufng
chd long bao mach mau(engainements vasculaires;

Ve sau, cd the xuat hien due the thuy tinh lam cham
d bao tn/dc va bao sau. D ifn vong mac va x6t nghiem thich
nghi it bi roi loan. Tuy nhi£n, thi trUOng bi lem khuyet vi

364
am diem hinh vong. Co the bi mot bien chufnp muon la
bong vong mac han la tach ldp vong mac.

732. W ALD EN STR O M (Hoi chiing)

Dudi cai ten m acroglobulin huyet (Waldenstrom, 1944)

ta c i n phan biet ra mot benh dugc dac trung bdi m ot hoi
chdng thieu mau, xuat huyet va ldch - gan, va co m acro­
globulin trong huyet thanh. M at khac, ban xuat huyet cd
tdng globulin huyet W aldenstrom (purpura hyperglobu-
linemique de Waldenstrom) la mot ban xuat huyet tien
trien man tinh vdi tang globulin huyet, co tien luong lanh
tinh.

Sau cung, nhdng hoi churng ma globulin huyft thanh ket

tua dudi siic lanh (crioglobulin huyet) dac b ift hay xay ra
trong bfnh da u tuy xuong (my^lome multiple des os) hay
la bfnh Kahler (1889). Toan bf nhtfng chting bfnh nay bao
gom nhiing di thudng protitd trong huyet tuong ma thtfc
stf la nhufng loan globulin huyft, tao ra nhiing trifu chiing
d m it ma g in day mdi biet tdi. Cdc ky thuat ve difn di,
miln dich difn di, sieu ly tam huyet tuong cho phep chan
doan nguyen nhan cu thi.

Cac bif’ u h i f n of m i t ciia loan globulin huyft, chu yfu

bfc lp mpt su roi loan ve huyet dfng, dac bift ro d mac
mach.

Cdc ddu hieu ket mac thucfng khd hay gap, nhat la d
nhufng ngudi bi crioglobulin huyet. B ing cach ap nhiing
khoi nude da len mi m it nh£m, ngudi ta quan sat thay
tuln hoan d mao mach ket mac bi cham lai h&n; ngudi ta

365
thay m ot hoi churng Raynaud thuc sU khu tru vdi dong hat
(courant granuleux).
Bieu hien a vong mac la day mat cua loan globulin
huyet: roi loan huyet dong don thuan xay ra khi an nhe
nhan cau ra phia ben, dong hat tinh m ach. huyet ap d<?ng
mach tam truong xuong thap. T h am chi d on g tinh mach
co the ngtfng lai va dtfng yen, con hong cau thi ttfng luc
dong bo vdi mach dap. Day mat cua loan globulin huy£t
hoac cua paraprotein huyet kinh dien co mdt ve rdt ddc
trung: tinh m ach gian to, cuong mdu, ngodn ngofeo, khong
deu, tifng khuc dam. Tinh mach quanh hodng dilm rdt
gian. Than dong mach ft bien ddi. Rat hay thdy xudt huyIt
vong mac va dich ri, nhung k h o n g co ve nao dac trung cho
benh. Trong m o t so trudng h o p ti phu tinh mach nhilu, ta
co the thay phu gai hoac bong von g mac. T o a n bo nhung
trieu chiifng nay doi khi goi len mot huyet khoi tinh mach
vong m ac hoac tinh trang ngodn ngoeo bam sinh cua cdc
mach mau.

T at ca nhurng bieu hien d mdt noi tren, nhat la d vong

mac, co the lam giam thj ltfc. Nhurng tdn thuong khu tru
khac d mdt nhu phat ban d mi c6 bdm mdu, chd'm bam
mau d mdng mdt, viem gidc mac kh6, sung hach 1# dlu 1£
nhurng trieu churng phu vd it khi xdy ra.

733. WALLENBERG (Hpi chting)

Hoi chting Wallenberg (1895) tuong ting vdi huyet khdi d

dong mach nao sau va phdt sinh tti dong mach dot sdng, tudi
mdu cho phan sau vd b6n cua hdnh nao. Do do ma sinh ra
6 nhuyln dung cham den cudng tidu nao dudi, cdc dudng dan

366
truyen cam giac dau va nong lanh, cac d i r d n g g ia o cam,
day than kinh sinh ba va nhan I d m d ( n o y a u a m b ig u ) .

Sau khi benh khdi phat mot cach du- dpi v d i c h d n g mat
va non mda, cac trieu chdng nhu sau:

- Dau nhufc va di cam (paresthesie) thuoc pham vi day

thdn kinh V cung ben vdi mat cam giac nda than bat cheo
d cac chi; chi cam giac ndng va dau bj anh hudng (phan
ly han nhiet - thdng cam). Cam giac sau va cam giac sd
di/tfc nguyen ven.

- Te liet phat am va nuot (ton thudng nhan Id md).

- Rung giat tien dinh kieu xoay.

- Trieu chufng nufa than cua tieu nao d phia ton thuong,
di khong vting, xu hudng nga ve phia bi tdn thuong.

- Hoi chiing Claude Bernard - Horner rat hay co d the kha

hodn chinh. Doi khi cdc dau hieu dong tuf ton tai dai ding rat
lau.

734. WARTENBERG

(Xem MARCUS - GUNN, hien tuong)

735. WEBER (H6i chting)

HQi chting Weber 16 hQi chting cudng nao dien hinh

nhat. No dac trtfng tdn thuong d chan cuong nao ma d dd
co dudng bd thap va cac soi trong cudng ciia day than kinh
vdn nhan chung (III) trifdc khi nhd ra khdi true than kinh
di qua doan nay.

Trifu chting ciia hoi chting giao ben cudng nao gom cd:

367
 - Lift day than kinh III. thuong liet hoan toan. mug
phia vdi ton thuong Phoi hop vdi

- Liet nua ngudi phia ben kia. bao gdm di n h ien liet

m at kieu trung Ur*ng.

Tuy theo sir lan rong ciia ton thucmg can nguyen m«k
hoi churng Weber co the tao ra nhdng tap hop trieu chdng
khac nhu hoi chung Benedikt, hoi chUng Parinaud.

736. W EBER

(Xem STURGE - WEBER - KRABBE)

737. WEBER (L5)

N hdng lo d chu bien vong mac do Weber mo ta (1947)

la nhdng vung nho tron, dd, bd mau xam nhat cd ranh
gidi ro rang. Nhdng 16 nay khong thung, ma nong khong
gay ra mot manh nip nao v&o trong dich kinh. Lo thdng
vong mac Weber theo tien nghiem, khong gay bong vong
rnac; chdng cd the phoi hop vdi mot thoai hoa u nang d
cnu bien vdng mac va vdi nhdng mach mau hang ran kieu
Gonen - Vogt.

738. WEBER - CHRISTIAN (Hpi chting)

Dudi cai ten nay, ta cin hieu dd la mpt benh hai cua
da (Weber va Christian, 1925 va 1928) m& nguon goc khong
ro, bieu hien bang nhting not viem dudi da va khu tru d
chi dudi. Benh viem mo md dudi da (panniculite) cd not
nay khong tien den lam mu. Duke - Elder cho biet cd the
xay ra viem mdng m it - the mi vk viem mang bo dao sau.

368
NgUdi ta co ban ve vai tro cua hoai tiif ma bang quang
(cystosteatonecrose) co nguon goc cf tuy.

739. WEECH

(Xem CHRIST - SIEMENS)

740. W E E K S (True khuan)

Dugc phan lap nSm 1886, true khuan Weeks hien dien
dudi hinh the mot mau que dai tir 1 den 2micron, ngang
0,5micron, Gram am. True khuan nay moc d thach, la thu
pham gay ra mot so viem ket mac; nhat la khi ket hgp
vdi benh m it hot thi no se gay ra nhufng the lam sang
dich 11 rat nSng (benh m it hot Weeks).

741. W E G E N E R (Benh u hat)

Bfnh u hat Wegener (1936 va 1939) mot bfnh gay

tuf vong, nguon goc chtfa ro. Ve gili phlu hoc, benh gom
nhtfng tdn thtfcfng u hat vk hoai tuf cua bo m£y h6 hip,
m<?t viem ddng mach to ! lan v£ vi£m tieu clu than tic
nghen.

Trifu chtfng chu yeu bieu hifn ve ho hap, dau do la tdn

thtfong d dtfdng ho hap tren hay Ik tdn thtfong d phdi.
Bfnh tifn tri£n trong vki ba th6ng v& se gfiy ra nhtfng
tdn thuong loet - hoai ttf d hdc mui, the trang bi suy sup
hln, c6 nhtfng dau hifu lan tr&n den nhtfng phu tang va
viem nhiiu d§y th in kinh. Cf giai doan cuoi cua bfnh u
hat, ndi bat len viem tif'u clu than gay ure huyet.

Bieu hifn d m it da dang. Trong mot so trtfOng hgp

th&nh h6c m it bi huy hoai tai chd do nhtfng o hoai ttf d

369
hoc mui, co loi nhan cau. Nhung bieu hien kh.ic u g>ac
mac, viem thuong cung mac va viein ket mac co bong.
Ton thuong cuc bo gay phan Ung a mang bo dao va
vong mac nhu cac o dich ri va tdc nghen mach

742. W E IL (Benh)

La ten doi khi dung de chi benh xo^n khuan vdng da

- chay mau tir khi c6 nhUng cong trinh nghi&n curu cua
Weil 6 cuoi the ky trudc. Chung toi nhdc lai ngdn gon
nhufng tdn thuong d mdt xay ra trong qud trinh ti£n triin
cdc benh leptospira khac nhau.

Viem ket mac thong thudng hoac doi khi co xuat huyft. kin
dao xay ra cung luc vdi benh va doi khi di trudc vang da.

Ton thuong mang b6 dao toa lan, trudc hoac sau va sdn
sang xuat hien sau khi bi benh tU vai tuan den nhilu
thang. Trieu chUng cua viem mong mdt, viem mdng mdt
- th i mi hoac viem hdc mac thudng d mot mdt Can nhan
manh sir lanh tinh cua nhUng biiu hien nay. Ton thuong
thi than kinh gay phu gai cung luc vdi phan tfng mang
nao hoac gay ra viem thi than kinh that su, nhung hiem
va ndi dung ra la muon.

Con v l liet van nhan thi xay ra thoang qua, sdm vd

trung hop vdi phan Ung mang nao.

743. WEILL - MARCHESANI (hpi chtfng)

Hoi chtfng do Weill (1932) vd Marchesani <1939) mo ta,

cung nhu hoi chtfng Marfan, ndm trong khung canh nhtfng
chtfng loan san trung bi bam sinh. Tuy nhien, hai hoi chtfng

370
nay that tach biet nhau ve phuang dien lam sang va nhan
khoa.

- Ngan d an g (brachymorphie) la yeu to chu yeu cua

hoi chi'/ng. no doi lap voi tat chi dai va hep (dolicho -
stenomelie) cua hoi churng Marfan; benh nhan ngirai be
nhirng beo lun, cac chi va ngdn tay ngfin (ngfin ngon:
brachydactylie); ca va ma dudi da rat phat trien. Khong
thay co ton thuong a tim - mach.

- The thuy tinh nho va tron la trieu chufng quan

trong thuf hai. Cung nhir trong hoi chtfng Marfan, co dau
hi§u rung mdng mdt a hai ben, chtfng to stf bat binh thudng
cua dfiy treo Zinn vd the thuy tinh; nhtfng chd giong nhau
gitfa hai hoi chtfng chi cd the thoi. Trong hdi chtfng Weill
- Marchesani, di tat cua day treo Zinn tod lan ca 360 do,
vi the md ngoai stf lech thtf phat the thuy tinh xdy ra vi
sau thi thd thuy tinh v in d gitfa va khong lech vi tri.
Dtfdng kinh cua the thuy tinh giam theo chieu ngang (the
thuy tinh nho) va giam deu, hinh the cua dudng xich dao
khong bi bat binh thudng. Trang thdi the thuy tinh tron va
d gitfa Ik diiu ndi bat trong hoi chtfng Weill - Marchesani.

V i tiln trien lfim sdng, cin ltfu y den hiem hoa lech
thi thuy tinh khi d in tudi ngtfdi ldn, vd nhat Id h ilm hoa
xuat hi<?n mot glocom tuan tien. Sau cung, can nhan manh
trang thdi loan sinh trung bi d tiln phdng nhu di dang
g<5c mdng - gidc mac,ddy chdng luge, cot song, mdng Barkan
hodc mdng mdt treo cao.

Tinh di truyln ciia hoi chtfng chtfa ro, co the di truyen

kilu lep.

371
 744. W EISS (Anh hinh cung)
Anh hinh cung Weiss (1898) la mot anh cong. sang,
song song vdi bd ben phia mui cua gai thi 0 ngtfdi can thi
Co ve nhtf day la trieu chufng dau tien thay dtfdc d trong
thoai hoa h&c mac can thi. Co anh sang nay la do d m it
ngtfdi can thj, phia ben mui ciia gai nho ra han so vdi ben
phia thai dtfdng.

745. W E R N E R (Hoi churng)

Hoi churng Werner (1904) phoi hop bpnh ctfng bi

(sclerodermie) vdi due the thuy tinh b lm sinh xay ra d
ngtfdi ldn tre tuoi. Hoi chtfng rat hiem thay, di truyen theo
kieu lep autosom, gan gui vdi h6i chtfng Rothmund, nhtfng
ta can phai phan biet ra.
Trieu chtfng xuat hien d khoang gitfa 15 va 20 tuoi, vdi
tan so bang nhau d ca hai gidi.
- T on thtfcfng da tao ra stf tang stfng hoa d nhtfng vung
dung de ti (zones d’appui) cua cac chi; roi loan van mach
thtfdng la nhtfng trieu chtfng dlu tien cua benh, gay ra
mot so hoi chtfng Raynaud thtfc stf d cac dau chi.
Sau do, tuan ttf hinh thanh benh ctfng bi va dan dan
lam cho cac ngon tay, ngon chan bi ctfng lai. Cac khdp bj
ctfng, bo mat trd thanh ctfng dd va teo d£t (bo mat ctfng
bi: masque sclerodermique). Nhtfng bieu hien khac d mat
cd dtfgc mo ta nhtf phinh gian mao mach, dong can sic to.
Luc dd, ta cd the goi la benh xo ctfng va bien dang da
(scleropoikilodermie).
- Khong bao gid thieu cac roi loan hi?n bp: toe kho va
gion, rung long, bac tdc long, tdn thtfong mdng va rang.

372
 - Benh nhan co tim voc be, bo xtfang manh khanh, va
co bo dang nha ngtfdi gia.
- Cung can phai neu len nhtfng roi loan thanh quan nhtf
noi khan tieng, giong noi qua cao (giong kim) va nhtfng
roi loan v§ noi tiet kieu thieu ndng tuyen sinh due a nam
va ntf gidi. Ve mat tam thin, benh nhan thtfdng van binh
thtfdng.
- Due the thuy tinh la mot yeu to quan trong cua
trieu chtfng hoc. Due the thuy tinh do noi tiet a ca hai
m^t, mdi dau gom nhtfng cho due d vo trtfdc va sau, tuy
nhien cung cd ndi den nhtfng due d nhan trung tam. Dau
sao thi nhtfng chd due ndy tdng tien rfi't cham, tir tir vd
se tao ra mot due todn bd d ngtfdi tr£. Cd the cd stf chenh
16ch tir 2 den 3 ndm trong ti£n triln cua hai mdt. Due the
thuy tinh Id bieu hien duy nhd't d mdt, mdc diu ngtfdi ta
c6 neu len nhtfng ton thtfong thodi hda cua gidc mac. Xo
ciing mi doi khi cd th i gfiy ra tdc 1$ dao.

746. W E R N IC K E

(Xem TILLING - WERNICKE)

747. W E R N IC K E (Hpi chiing)

Benh viem nao xdm tr€n xufi't huyet Id mot benh rat
ndng, hay xay ra d ngtfdi nghi§n rtfOu; benh do thieu
vitamin B (cong trinh nghien ciiu cua Gayet d Lyon).

HQi chiing thfin kinh bieu hien bdng nhiing rd'i loan
tdm thdn, vd cdm, me sdng vd nhfi't Id ton thtfong van
nhan. Rung gifit nhan cdu Id trigu chiing ludn luon cd, ddu
cho Id rung gifit kieu ngang hay kilu diing. Liet van nhan

373
co nhufng the lam sang rat khac nhau. chdng han nhu lK't
than day than kinh nhat la than day VI, liet chuc ndng
nhin, liet van nhan ca hai ben vcfi sup mi, tao ra bQ mdt
Hutchinson.

Trong mot so benh dn, ngudi ta co noi den xuat huy§t

vong mac vdi phu gai.

Tien trien thudng rat ndng, tii vong trong vong ddm ba
ngay sau khi xuat hien cdc dau hieu d mfit. Trong chting
loan tam thdn Korsakoff, cung c6 nhufng bi<?u hi§n d mfit
nhu the.

748. W E R N IC K E (Phan ting ban thi)

Phan ling ban thi Wernicke (reflexe hemiopique - 1872)

cho phep phan biet mot ban manh dong danh do ton thuong
dai thi vdi mot ban manh do ton thucrng dudng thi giac
trong so, dac biet la cac tia thi giac (radiations optiques).
Cu the hoa phan ting nay kha kho khdn. Thuc ra thi dai
thi con co nhiing soi cho dong tii den tan the goi ngodi.
Cho nen kho ma thtic hien diioc viec chieu anh sang vdo
phan niia mu cua hai vong mac va khong ldm cho ddng tii
co lai duoc.

749. W E S T (HQi chiing)

Hoi chiing W est la mot the dong kinh rieng biet cua
tre tho au. V l lam sdng, duoc ddc trung bdi nhufng con co
giat d tu the gap (spasmes en flexion) vd ve dien nao do
thi co nhiing con boc nhieu chfi'm s6ng (bouffees de poly-
pointes ondes) ddc trtfng cho loan nhip cao.

374
 The dong kinh nay dac trUng cho mot kieu phan Ung
ciia he than kinh, va khong phai la mot benh tu phat co
cdn nguyen dac hieu. Tien lifcriig chu yeu phu thuoc vao
benh cdn. Nhufng hoi chdng ve thin kinh da co ton thucfng
vong mac la mot trong nhUng cSn benh co the gay hoi
churng West.

750. W ESTH OFF (Viem gidc mac cham)

Benh viem gidc mac cham Westhoff (1912) duoc mo ta

d Java, xay ra 6 nhUng ngudi nong dan lao dong trong cac
vung sinh lay. La mot viem giac mac cham dudi bieu mo,
khong bdt mdu d binh dien nong. Cdc yeu to cham khu
tru d phdn tren vd trung tam gidc mac. Tdn thuang gidc
mac co the khong chuydn bidn trong nhieu ndm. C6 ve
nhu loai vi6m gidc mac cham nong nhiet ddi ndy c6 nguon
gdc nhiim virus.

751. WESTPHAL - STRUMPELL

(Xem benh WILSON)

752. WEYERS - THIER (Hoi churng)

Hoi churng mfit - d6t s6'ng Weyers vd Thier (1958) Id

mQt tfip hop nhilu di dang rd't hiem c6, gom bo ba trieu
chting vd, v l nguyen tdc, d mot mdt:

- Roi loan phat trien nhan cau: nhan cdu be, tat
m^t an (cryptophtalmie), khong nhan cau hoac khuyet tat.

- Bat san d ntia mfit: ngting phdt trien ham dudi, doi
khi hdm tren, di dang rdng va c6 tat mieng rong (macros-
tomie) (tdn thuong cung mang thti nhat).

375
 - T on thtfcfng d ot song: di dang cot song co va lung.
Than dot sdng ngtfng phat trien: tat thieu nua dot song,
dot sdng hinh chem. Di dang xuong sUdn: xuong sUdn bat
san hoac thanh hai, doi khi phdi hop ca hai; co the co tat
nUt dot sdng kin (spina bifida occulta).
Theo Saraux thi hoi chUng Weyers va Thier la m<?t hQi
chUng ban 14, ndm gitia tat nhan cdu be vdi hQi chting
cung mang thti nhd't va tat nhan cdu b6 vdi biiu hien d
xa. Ngudi ta cdn chtfa bidt c6 phdi dd 16 mdt b§nh cua
phoi thai hay Id mdt di dang di truyln.

753. W ID M A R K (Vi§m ket mac)

La mot the loai viem ket mac cap c6 troc bieu mo

(Widmar, 1909). Nhting tdn thuong ket mac bdt mau c6
nhieu nhat d vung trudc giac mac. La mot viem ket mac
cap, rat dau nhtic, kieu xuat tiet (Duke - Elder).

754. W IE D E R M A N N

(Xem HOLTENMULIER - W IEDERM ANN)

755. W IE T H E

(Xem URBACH - WIETHE)

756. W IL D E R V A N C K

(Xem KLIPPEL - FEIL)

757. W IL M S (U)

Benh u than d tre em Wilms dtfgc mo ta cd phdi hgp

y nghia vdi tat khong cd mdng mdt; stf phdi hop nay co

376
the pinp ta doi khi chan doan dime sdm u d than (Millet
va cong sU; Flanagan va cong sd).

758. W ILSO N (Benh)

Hoi churng thoai hoa gan - n h a n dau (d e g e n e r e s c e n c e

h epatolenticulaire) ma n g a y n a y ta da b iet do c&n n g u y e n
chuyen hoa, la m o t be n h da dUdc xac dinh ro ra ng .

Kinh dien, can phan biet giufa benh Wilson va benh gia
xd Westphal - Strumpell.
Benli Wilson (1912) tUdng ting vdi mot hoi churng ngoai
thAp (syndrome extrapyramidal) phoi hdp vdi xd gan. Thay
xay ra d tre dtfdi 10 tuoi.
- Benh gid xa Westphal (1883) vd Strumpell (1898) xuat
hien muon hdn. Bieu hien bdng sir run van dong htiu y
(tremblement intentionnel) dti d§i, gid'ng nhif trong benh
xcr cting rai rdc, phoi hdp vdi roi loan di lai, ndi vd doi
khi cd cd xd gan.
Nhiifng cong trinh nghien ctiu hidn dai gdn ca hai benh
nay vdo nguon goc rd'i loan chuyen hda. Dd Id roi loan
chuyen hda ddng do khong cd hodc thieu hut chat xeru-
loplasmin, la mdt protein huyet tUdng cd nhiem vu cd' dinh
chd't ddng luu thdng. Do dd md gay ra sti ngimg dong bdt
binh thudng chfi't dong trong nhdn xdm cua n in so, trong
nhu mo gan va cdc md khac nhu than va mdt. Su tich dong
chat dong nav giai thich cho cdc trieu chting md ta cd thd
chia mQt cach khai quat ra trieu chting than kinh, trieu
chting gan, trieu chting mdt vd trieu chting ve sinh hoc.
1. Trieu chtfng than kinh: thuoc nhom van, ngodi
thdp. Tdng trtftmg ltic ngoai thdp, khdng rdm ro, kem theo

377
nhufng bieu hien tan man d chi. mat. ton thaong den ttf
the can bdng, di lai va cdc dong tac tu chu
Rung theo kieu rung hanh dong ( t r e m b l e m e n t d action)
gay ra nhufng dong tac khong ttf chu chong lai dong tac
ttf chu.

Con co nhtfng trieu chtfng than kinh khac. ddc biet la

nhtfng dong tac mua giat - mua vcfn, va nhat la nhtfng roi
loan ve tam than luon luon c6, ddn tdi stf suy sup ttf ttf.
Dien nao do hoi bi roi loan.

2. X o gan. Doi khi ton thtfong gan ro; luc ay c6 xo gan

kieu teo gan vOi cd trtfdng vd nhufng dd'u hieu suy gan. Tuy
nhien, rat thtfdng thdy ton thtfong gan co the bi bo qua
va cac test ve chtfc ndng gan it bi roi loan

3. T rieu chufng of m at: bieu hien d mdt dac hieu cho

stf qua tai dong, gom co: vdng xanh luc Kayser - Fleischer
(xem ten nay) va due the thuy tinh kieu hoa htfdng dtfong
(en fleur de tournesol). Soi sinh hien vi de thay loai due
the thuy tinh nay, gom nhtfng cho due co s ic to, ong anh,
xoe ra nhtf mat trdi d bao trtfdc. Due the thuy tinh nay
khong gay roi loan ve thi ltfc.

4. Roi loan chuyen hoa la yeu to chung gdn lien benh

Wilson vdi benh Westphal - Strumpell. NgtfOi ta thay chat
dong thai qua ntfdc tieu tdng len rat cao, nhtfng ty trong
d6ng trong mdu thi thay doi it. Dilu bat binh thtfdng thtf
hai la tdng acid amin nieu tdng the.

Sau cung la tinh chat di truyen va gia dinh cua hoi

chtfng gan - nhan d$u. Co thd chan doan sdm bdng sinh
hda d nhtfng gia dinh bi benh: d mpt sd trtfdng hop dj hop

378
tu, thay giam ty trong xeruloplasmin. Di truyen theo kieu
autosomlep Tien trien cua benh van con la rat nang, mac
dau ngay nay no co thay doi chut it nhd su" dung BAL va
cac thuoc chelate (chelateur).

759. W IL S O N (Dau hieu)

Dau hieu Wilson (1951) la stf tdng cam hoac ngiTOc lai
la sU giam cam giac d vung go ma. Thay co trong qua trinh
viem tuyen le do virus.

760. W ILSO N - BROCQ (Benh)

B^nh Wilson - Brocq hay Id benh do da trdc vay

(erythrodermie desquamante), va cung benh ay d tre em
(benh Leiner) doi khi gay nen nhtfng tdn thuong d mi -
ket mac. Thtfc te la teo da se din den co rut mi, dinh
nhan cau va nhtfng ton thuong d gidc mac nhu lo^t gidc
mac vd kho gidc mac.

761. W IS K O T T - A LD R IC H (Hpi chtfng)

Hpi chtfng giam sut m iin dich d tre em, Wiskott (1937)
vd Aldrich (1954) di truyen theo kieu 16p g in lien vdi gidi
ti'nh.

Benh gom bQ ba trieu chtfng:

- Eczema
- Giam tieu cau, gay hQi chtfng xuat huyet nhu dai tien
ra mdu, non ra mau, ban xuat huyet, chay mau niem
mac,v.v....

- Nhiim khudn tdi diln d da, phe quan - phoi, tieu hoa
vd th$n.

379
 Hoi chiifng dang so nay co the gay tuf vong sau vai ^a
n3m.
Nhieu bieu hien dr mSt duoc neu len nhu viem bd mi -
ket mac kieu eczema hodc lam mu, viem thuong ciing mac
va loet giac mac. Xuat huyet anh hudng den mat nhu chriy
mau ket mac, tu mau hoc mat, chay mau 6 vong mac -
dich kinh. Ngudi ta co n6i tdi su phdi hop vdi Herpes da
va giac mac, cac tdn thuong d mi kieu u mem lay (mollus-
cum contagiosum).

762. W O O D

(Xem NORMAN - WOOD)

763. W Y B U R N - M A SO N

(Xam BONNET (P.) - DECHAUME - BLANC)

38 0
 NHA X U A T BAN Y HOC

CAC H 0I CHUNG NHAN KHOA

V 6 l BENH LY TOAN THAN

C h iu track nhiem xu a t b d n :

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N G U Y E N TH I K IM l iEn

Bien tap: BS. THANH LAM

Sua bdn in: BS. THANH LAM
Trinh bay bia: DOAN YlTONG
In 1.000 cu6n kh6 13x19cm tai Xuong in Nha xuit ban Y hoc.
Gi£y ddng ky k6 hoach xu& ban stf: 169 - 1550/XB - QLXB
ngay 28/12/99. In xong vi n6p luu chidu quy IV nam 2000.