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Surgical Case Presentation

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CASE PROTOCOL
W lnformanL SlsLer
W 8ellablllLy 80
Genera| Data A case of AMC
female neonaLe llllplno 8oman
CaLhollc from klnasangan Cebu
ClLy was admlLLed for Lhe flrsL Llme
aL CCMC on nov 4 2011
Ch|ef comp|a|nt lnablllLy Lo defecaLe
9renaLal PlsLory
MoLher was 40 years old aL Lhe Llme
of pregnancy C
6
9
00
no prenaLal
checkup nor ulLrasound done lerrous
sulfaLe and lollc acld were noL Laken
no maLernal lllness lncurred durlng Lhe
enLlre course of pregnancy
lnLranaLal and 9osLnaLal PlsLory
9aLlenL was dellvered vla nSu aL a LPC by a
mldwlfe full Lerm wlLh good cry upon blrLh Lhe
aLLendlng mldwlfe noLed nonpaLency of Lhe anus
Lhus advlsed parenLs Lo seek for consulL 1 day 9@A
paLlenL was noLed Lo sLralnlng ln an aLLempL Lo
defecaLe Abdomlnal dlsLenslon was noLed as well as
vomlLlng Cood suck no dlsLurbances ln urlnaLlon
9erslsLence of condlLlon prompLed consulL and was
subsequenLly admlLLed
lmmunlzaLlon none
lamlly PlsLory
() PyperLenslon 8ronchlal asLhma uM
() CongenlLal anomalles
9ersonal and Soclal PlsLory
8lrLh rank 6/6 9arenLs and Slbllngs were
apparenLly healLhy MoLher ls a vendor whlle
Lhe faLher ls a drlver
Physical examination
Ceneral Survey
9aLlenL was examlned consclous lrrlLable
febrlle and ln resplraLory dlsLress wlLh
Lhe ff vlLal slgns
98 166 bpm 88 74cpm @ 383C
(wL28 kg)
W Skln () pallor () [aundlce () cyanosls
warm good Lurgor
W PLLn@ normocephallc obllque eye flssures
wlLh eplcanLhlc skln folds on Lhe lnner corner
of Lhe eyes AS 99C
9L8LA () alar flarlng flaL nasal brldge
W neck supple () LAu
W C/L LCL () reLracLlons C8S ()
rales () wheeze
W CvS uPS n888 () murmur
W Abdomen dlsLended vlslble velns dry umblllcal
sLump sofL PyperacLlve bowel sounds
W CenlLourlnary grossly female () dlscharges
lmperforaLe anus () flsLula
W LxLremlLles no gross deformlLy sLrong pulse C8@ 2
sec
W MusculoskeleLal (+) hypoLonla
W 8Lflexes (+) Sucklng reflex
(+) 8ooLlng reflex
(+) Moro reflex
(+) 8ablnskl
Salient features
Nonpatency of anus Mother's age 40 years o|d
Abdomlnal dlsLenslon Cbllque eye flssures
(+) vomlLlng (+) hypoLonla
lnablllLy Lo pass meconlum llaL nasal brldge
PyperacLlve bowel sounds
AuMl@@lnC lM98LSSlCn/S
|MRFORA1 ANU5 w|thout
f|:tu|o
1lC 1R|5OMV 2I
PERFORATE ANUS and
Cloacal alformations
Simple recall:
ma|e fema|e
embryology
2nd week of gestat|on h|ndgut forms as that part of the pr|m|t|ve
gut tube wh|ch extends |nto the ta|| fo|d
Day 13 |t deve|ops a ventra| d|vert|cu|um the a||anto|s or
pr|m|t|ve b|adder 1he [unct|on of a||anto|s and h|ndgut become
the c|oaca |nto wh|ch the gen|ta| ur|nary and |ntest|na| tubes
empty 1h|s |s covered by a c|oaca| membrane
m|dd|e of the 7th week urorecta| septumdescends to d|v|de
th|s common channe| by form|ng |atera| r|dges wh|ch grow |n
and fuse
8th week Cpen|ng of the poster|or port|on of the membrane (the
ana| membrane)
Ia||ures |n any part of these processes can |ead to the c||n|ca|
spectrum of anogen|ta| anoma||es
embryologlc basls fallure of descenL of Lhe urorecLal
sepLum @he level Lo whlch Lhls sepLum descends
deLermlnes Lhe Lype of anomaly LhaL ls presenL whlch
subsequenLly lnfluences Lhe surglcal approach
above (h|gh) or be|ow (|ow) Lhe levaLor anl muscle
mperforate anus: male
Low leslon
Plgh leslon
mc
mperforate anus: female
vesLlbular flsLula
Cloaca
mc
EFNTON AN NCENCE
|mperforate anus or ana| atres|a ls a blrLh defecL
characLerlzed by nonpaLency of Lhe anus
W lncldence 1 ln 4000 000 blrLhs
boys glrls
classification
W|ngspread c|ass|f|cat|on
ea's c|ass|f|cat|on
kr|ckenbeck c|ass|f|cat|on
ingspread classification :
mosL common prevlous lnLernaLlonal
classlflcaLlon elaboraLed ln WlngspreadWls ln
1984
dlsLlngulshed beLween h|gh |ntermed|ate
and |ow anoma||es |n the ma|e and fema|e
w|th spec|a| groups estab||shed for c|oaca|
and rare ma|format|ons
Wlngspread classlflcaLlon
PlghLype
1 AnorecLal
agenesls wlLh and
wlLhouL flsLula
2 8ecLal aLresla
lnLermedlaLe
lemale
1 recLovesLlbular
2 recLovaglnal
Male
1 recLobulbar flsLula
ll anal agenesls wlLhouL
flsLula ln boLh sexes
lowLype
1 anovesLlbular flsLula
ln Lhe female
2 (boLh saxes)
anocuLaneous flsLula
and anal sLenosls
ighlying
intermediate
Lowlying
Pena Classification System
Gender Ma|format|on Co|ostomy requ|red
Ma|e Cutaneous f|stu|a (per|nea| f|stu|a) No
kectourethra| f|stu|a Ls
8u|bar Ls
rostat|c Ls
kectoves|ca| f|stu|a Ls
Anorecta| Agenes|s w|thout f|stu|a Ls
kecta| atres|a Ls
Iema|e Cutaneous f|stu|a (per|nea| f|stu|a) No
Vest|bu|ar f|stu|a Ls
Anorecta| Agenes|s w|thout f|stu|a Ls
kecta| Atres|a Ls
ers|stent C|oaca Ls
rickenbeck classification
modlflcaLlon of Lhe classlflcaLlon of 9ena
accordlng Lo Lhe Lype of Lhe flsLula and
lncludes rare/reglonal varlanLs
W @he new lnLernaLlonal classlflcaLlon
enables Lhe dlfferenL operaLlve procedures Lo
be more comparable Lo each oLher Lhan wlLh
Lhe Wlngspread classlflcaLlon
rickenbeck classification
ALE EFECTS
Perineal/ Cutaneous fistula
Low defecL
AnLerlorly mlslocaLed
* anal sLenosls coveteJ
ooos oool membtooe
bocket booJle molfotmotloo
Moooqemeot
5lmple oool Jllototloos
Mlolmol postetlot
moblllzotloo to ploce flstolo
wltblo tbe llmlts of tbe
extetool spbloctet
Low lmperforaLe
anus @he perlneal
flsLula was found aL
Lhe mldllne raphe
(SomeLlmes Lhe flsLula does noL
open lnLo Lhe perlneum buL
raLher follows a subeplLhellal
mldllne LracL openlng along Lhe
perlneal raphe scroLum or even
aL Lhe base of Lhe penls)
Rectourethral fistula mc
rectourethra| bu|bar
f|stu|a rectoprostat|c f|stu|a
Rectourethral fistula
rectourethra| bu|bar
f|stu|a
W assoclaLed wlLh good
quallLy muscles
W well developed sacrum
W promlnenL mldllne groove
W promlnenL anal dlmple
W *9ass meconlum Lhrough
Lhe ureLhra
rectoprostat|c f|stu|a
W assoclaLed wlLh poor
quallLy muscles
W abnormally developed
sacrum
W flaL perlneum wlLh poor
mldllne groove
W no vlslble anal dlmple
*9ass meconlum Lhrough Lhe
ureLhra
RectoBladder Neck Fistula
W AssoclaLed defecLs occur ln
90 poor prognosls
W sacrum ls hypodeveloped
W LevaLor muscle muscle
complex and exLernal
sphlncLer ls poorly
developed
W ln order Lo be repalred
requlres noL only a
posLerlor saglLLal approach
buL also an abdomlnal one
elLher by laparoLomy or
laparoscopy
mperforate Anus ithout Fistula.
W @hls malformaLlon only
happens ln of all
cases and half of Lhese
W have uown's syndrome
FEALE EFECTS
kectoper|nea| I|stu|a kectovest|bu|ar I|stu|a
PERSSTENT CLOACA...
Associated alformations
ApproxlmaLely 60of paLlenLs wlLh an anorecLal malformaLlon have anoLher
assoclaLed malformaLlon 1he most common are anoma||es of the
k|dneys and ur|nary tract |n con[unct|on w|th abnorma||t|es of the
sacrum 1h|s comp|ex |s often referred to as the cauda| regress|on
syndrome
urlnary LracL defecL MC
occurs ln approx 0 of paLlenLs
SkeleLal defecLs (sacrum ls mosL commonly lnvolved)
Splnal cord anomalles esp LeLhered cord parLlcularly ln chlldren wlLh hlgh
leslons
Cl LracL anomalles mosL commonly esophageal aLresla
Cardlac anomalles
occaslonally paLlenLs presenL wlLh a consLellaLlon of defecLs as parL of Lhe
vAC@L8L syndrome (ertebra| fna| nard|ac rachea| sophagea| ena|
|mb)
W A llsL of anorecLal defecLs and Lhe percenLages of paLlenLs
wlLh assoclaLed urogenlLal anomalles ls as follows (8lch
1988)
W C|oaca 81
W 8ecLoveslcal defecL 2
W 8ecLoprosLaLlc 40
W 8ecLovesLlbular 9
W 8ecLobulbar 4
W 8ecLoperlneal 0
W Cverall 48
All paLlenLs musL be examlned aL blrLh Lo evaluaLe for one of
Lhese defecLs Lhe mosL valuable screenlng LesL ls abdom|na|
and pe|v|c u|trasonography
Tethered cord
refers Lo Lhe lnLraverLebral flxaLlon of Lhe phylum Lermlnale
has a known assoclaLlon wlLh anorecLal malformaLlon approxlmaLely
2 of paLlenLs wlLh anorecLal malformaLlon have a LeLhered splnal
cord
@he prevalence lncreases wlLh lncreaslng helghL and complexlLy of Lhe
anorecLal anomaly
MoLor and sensory dlsLurbances of Lhe lower exLremlLles may resulL
unLeLherlng Lhe cord ls lndlcaLed ln Lhe neurosurglcal llLeraLure Lo
avold moLor and sensory problems no evldence exlsLs Lo suggesL LhaL
Lhls operaLlon has an lmpacL on Lhe funcLlonal prognosls for paLlenLs
wlLh anorecLal malformaLlon
Splnal ulLrasonography ln Lhe flrsL 3 monLhs of llfe and M8l
LhereafLer are useful radlologlc modallLles Lo esLabllsh Lhe dlagnosls
ACNOSS AN ANACEENT
@he prlnclples of managemenL
dlagnoslng Lhe Lype of defecL LhaL ls
presenL (hlgh vs low)
(+/) of assoclaLed anomalles
(+/) flsLula
ndications : colostomy vs. anoplasty
ma|es
1 AnoplasLy 8ecLoperlneal
flsLula
2 ColosLomy
a 8ecLobulbar ureLhral
flsLula
b recLoprosLaLlc ureLhral
flsLula
c recLoveslcal flsLula
d lmperforaLe anus wlLhouL
flsLula
e recLal aLresla
W
fema|es
1 AnoplasLy 8ecLoperlneal
flsLula
2 ColosLomy
a 8ecLovesLlbular flsLula
b lmperforaLe anus
wlLhouL flsLula
c perslsLenL cloaca
d recLal aLresla
e recLovaglnal flsLula
igh vs. low lying
laLeral abdomlnal radlographwlLh a radlopaque
marker on Lhe perlneum
98CCLuu8L
9laclng Lhe lnfanL ln Lhe |nverted pos|t|on allows Lhe
dlsLance beLween Lhe mosL dlsLal exLenL of alr ln Lhe
recLum and Lhe perlneal surface Lo be measured
maging studies
1 Invertogram
W Ind|cat|on when Lhe perlneal lnspecLlon and urlnalysls are lnconcluslve
wheLher Lhe defecL ls hlgh or low
W rocedure done afLer18 hours of blrLh so LhaL Lhe meconlum reaches Lhe
recLum and wlLh sufflclenL pressure LhaL lL can negoLlaLe Lhe pressure
exerLed by levaLor muscle complex A radlo opaque ob[ecL ls placed ln Lhe
anal plL of Lhe baby 8aby ls lnverLed for abouL three m|nutes and laLeral
vlew xray ls Laken
W Interpretat|on lf Lhe lengLh of Lhe alr column ls more than 1 cm
h|gh anorecLal malformaLlon ls dlagnosed lf lL ls |ess than 1cm a low Lype of
arm ls dlagnosed
W D|sadvantages 8esplraLory dlsLress occurs ln Lhe baby because of Lhe
poslLlon
W lnLracranlal hemorrhage can occur ln Lhe baby
invertogram
Crosstab|e |atera| f||m @hls procedure ls
same as lnverLogram excepL Lhe poslLlon
of Lhe baby whlch ls prone here @hus
Lhe dlsadvanLages of lnverLogram
because of Lhe poslLlon ls noL here
Other investigations :
W U|trasonography abdomen rule ouL any
assoclaLed urologlcal anomalles
W kray sp|ne AnLeroposLerlor and laLeral fllms
Lo rule ouL any congenlLal splnal abnormallLles
llke splna blflda
W ColosLomy cases
W n|gh pressure co|ostography @hls ls done Lo
dellneaLe Lhe acuraLe anaLomy of Lhe
anorecLal malformaLlon
igh imperforate anus with rectouretheral fistula.
CrossLable laLeral radlograph (A) shows absence of alr ln Lhe anal area (meLalllc marker aL
Lhe anal verge) A lucenL curvlllnear alr shadow ls seen anLerlorly (arrow) represenLlng alr
ln Lhe urlnary bladder as a resulL of Lhe flsLula Loopogram (8) of Lhe same paLlenL conflrms
Lhe recLo ureLhral flsLula and ouLllnes Lhe recLum and Lhe bladder
ANACEENT: low lesion
ln general when a low leslon ls presenL
only a perlneal operaLlon (perlneal
anoplasLy) ls requlred wlLhouL a
colosLomy
ighlying
lnfanLs wlLh a hlgh leslon requlre a
colosLomy ln Lhe newborn perlod
followed by a pu||through
procedure at approx|mate|y 2
months (48 wk) of age
colostomy
Descend|ng co|ostomy w|th separated stomas |s recommended
Advantages
1 defuncLlonallzes only a sma|| porLlon of dlsLal colon
W 2 ln cases of large recLourlnary flsLulae ln whlch Lhe paLlenL passes urlne
lnLo Lhe bowel Lhe urlne comes ouL easlly Lhrough Lhe mucous flsLula
avoldlng problems of hyperchloremlc acldosls caused by urlne absorpLlon
3 urlnary LracL lnfecLlons are also avolded
Washlng and cleanlng Lhe porLlon of Lhe colon dlsLal Lo Lhe colosLomy ls
relaLlvely easy
4 D|sta| co|ostography |s easy to perform
W @he slgmold loop ls kepL dlsLal Lo Lhe colosLomy whlch provldes
enough lengLh Lo reach Lhe perlneum durlng Lhe deflnlLlve pullLhrough
procedure @he separaLed sLomas prevenL splllage of sLool from
proxlmal Lo dlsLal bowel whlch avolds lmpacLed dlsLal sLool and urlnary
LracL lnfecLlons
colostomy
W A low lncldence of prolapse exlsLs wlLh Lhls Lechnlque 9roxlmal sLoma
prolapse ln a normally roLaLed colon should noL occur wlLh Lhls Lechnlque
because Lhe colon ls well flxed Lo Lhe reLroperlLoneum [usL before Lhe
colosLomy rlses Lo Lhe skln level @he dlsLal sLoma may prolapse because lL
ls ln a moblle porLlon of Lhe colon @o avold Lhls Lhe dlsLal sLoma musL be
made lnLenLlonally small because lL ls used only for lrrlgaLlons and
radlologlc sLudles
W When performlng Lhe colosLomy ln Lhe newborn Lhe dlsLal bowel
should be lrrlgaLed Lo remove all Lhe meconlum @hls prevenLs formaLlon
of a megaslgmold whlch may be responslble for Lhe fuLure developmenL
of consLlpaLlon
Loop colosLomles are conLralndlcaLed
ln chlldren wlLh anorecLal
malformaLlons @hey have a Lendency
Lo prolapse and wlLh Lhem sLool can
pass lnLo Lhe dlsLal sLoma whlch may
provoke faecal lmpacLlon lnLhe dlsLal
recLum and also conLamlnaLe Lhe
urlnary LracL wlLh faeces
colostomy
A colostomy ls an lnclslon (cuL) lnLo Lhe colon (large lnLesLlne) Lo creaLe an
arLlflclal openlng or sLoma Lo Lhe exLerlor of Lhe abdomen
@ypes of colosLomy
W Loop co|ostomy @hls Lype of colosLomy ls usually used ln emergencles
and ls a Lemporary and large sLoma A loop of Lhe bowel ls pulled ouL
onLo Lhe abdomen and held ln place wlLh an exLernal devlce @he bowel ls
Lhen suLured Lo Lhe abdomen and Lwo openlngs are creaLed ln Lhe one
sLoma one for sLool and Lhe oLher for mucus
W Lnd co|ostomy A sLoma ls creaLed from one end of Lhe bowel @he oLher
porLlon of Lhe bowel ls elLher removed or sewn shuL (ParLmanns pouch)
W Doub|e barre| co|ostomy @he bowel ls severed and boLh ends are broughL
ouL onLo Lhe abdomen Cnly Lhe proxlmal sLoma ls funcLlonal
posterior sagittal anorectoplasty
@he Lype of pullLhrough procedure favored by mosL pedlaLrlc surgeons as
descrlbed by 9ena and uevrles
9rocedure
@he paLlenL ls placed ln Lhe prone [ackknlfe
poslLlon Lhe levaLor anl and exLernal sphlncLer
complex ls dlvlded ln Lhe mldllne posLerlorly Lhe
communlcaLlon beLween Lhe Cl LracL and Lhe urlnary
LracL ls dlvlded and Lhe recLum ls broughL down
afLer sufflclenL lengLh ls achleved @he muscles are
Lhen reconsLrucLed and suLured Lo Lhe recLum
posterior sagittal anorectoplasty
OPERATE STEPS OF POSTEROR SACCTAL
ANORECTOPLASTY (PSARP)
9aLlenLs are placed ln Lhe prone pos|t|on wlLh Lhe pe|v|s e|evated
@he surgeon opens Lhe posLerlor saglLLally @he skln and subcuLaneous
Llssue are dlvlded and Lhe parasaglLLal flbers below are dlvlded ln Lhe
mldllne as ls Lhe muscle complex
@he levaLor muscle ls Lhen opened and Lhe recLum ls found When Lhe
recLum ls locaLed lLs posLerlor wall ls opened ln Lhe mldllne Lo
demonsLraLe LhaL a flsLula ls presenL @hls posLerlor lnclslon ln Lhe recLum
ls carrled down Lo Lhe flsLula slLe
@he recLum and ureLhra share a common wall MeLlculous dlssecLlon ls
requlred Lo separaLe Lhe dlsLal recLum from Lhe ureLhra A submucosal
dlssecLlon musL be performed @he recLum ls separaLed from Lhe urlnary
LracL @hls dlssecLlon ls faclllLaLed by placlng mulLlple 60 sllk suLures ln Lhe
recLal mucosa Lo exerL unlform LracLlon
W
APPROAC
Rectourethral fistula mc
rectourethra| bu|bar
f|stu|a rectoprostat|c f|stu|a
approach
@he posLerlor recLal wall ls easlly ldenLlfled by lLs characLerlsLlc
whlLlsh appearance @he posLerlor recLal wall ls opened ln Lhe
mldllne ln beLween Lwo /0 sllk sLlLches @he lnclslon ls
conLlnued dlsLally sLaylng ln Lhe mldllne whlle applylng
sLlLches ln Lhe edges of Lhe recLum @he LracLlon on Lhese
sLlLches wlll allow Lhe surgeon Lo see Lhe lumen of Lhe
recLum When Lhe lnclslon conLlnues exLendlng dlsLally ln Lhe
mldllne lL ends dlrecLly lnLo Lhe recLoureLhral flsLula LhaL ls
ldenLlfled usually as a 12 mm orlflce
W MulLlple 6/0 sllk suLures are placed ln a sem|
c|rcumferent|a| fash|on surroundlng Lhe flsLula slLe
above and laLeral Lo Lhe flsLula @hese mulLlple
suLures serve Lhe purpose of exerLlng unlform
LracLlon on Lhe recLal mucosa Lo faclllLaLe Lhe
separaLlon of Lhe recLum from Lhe urlnary LracL @he
fascla LhaL covers Lhe recLum ls removed creaLlng
Lhe laLeral planes of Lhe recLum @he mucosa of Lhe
anLerlor recLal wall dlsLal Lo Lhe mulLlple 6/0 sllk
suLures ls dlvlded abouL 1 mm deep
@he dlssecLlon conLlnues beLween Lhe recLum and
urlnary LracL ln a submucosal plane for approxlmaLely
10 mm and Lhen gradually becomes a full
Lhlckness dlssecLlon looklng aL Lhe laLeral planes
unLll Lhe recLum ls compleLely separaLed from Lhe
urlnary LracL @he separaLlon of Lhe ureLhra from Lhe
recLum ls Lhe mosL dellcaLe parL of Lhe operaLlon
MosL of Lhe serlous compllcaLlons occur durlng Lhls
parL of Lhe procedure @he flsLula slLe ls closed wlLh
Lhree or four 6/0 longLerm absorbable suLures
W @he slze of Lhe recLum Lhen be evaluaLed and compare Lo Lhe
avallable space Lo declde lf Lhe recLum has Lo be Lapered Lo
be accommodaLed wlLhln Lhe llmlLs of Lhe sphlncLers When a
Laperlng procedure ls requlred Lo remove an adequaLe
porLlon of Lhe posLerlor recLal wall ls recommended closlng
Lhls wall lnLo Lwo layers of lnLerrupLed longLerm absorbable
suLures @aperlng on Lhe anLerlor wall ls absoluLely
conLralndlcaLed as lL would leave a recLal suLure llne agalnsL
Lhe ureLhral flsLula repalr and a recurrenL flsLula may develop
W @he llmlLs of Lhe sphlncLer are Lhen elecLrlcally deLermlned
and marked wlLh Lemporary sllk suLures @he perlneal body ls
reconsLrucLed when Lhe lnclslon exLends anLerlor Lo Lhe
cenLre of Lhe sphlncLer @he anLerlor llmlLs of Lhe sphlncLer
musL be reconsLrucLed
W @he posLerlor edge of Lhe levaLor muscle ls
elecLrlcally deLermlned and Lhe recLum ls placed ln
fronL of Lhe levaLor @he posLerlor edges of Lhe
levaLor muscle are suLured LogeLher wlLh lnLerrupLed
/0 longLerm absorbable suLures @he dlsLal
conLlnuaLlon of Lhe levaLor muscle ls arblLrarlly called
Lhe muscle complex @he posLerlor edge of Lhls
muscle sLrucLure ls suLured LogeLher ln Lhe mldllne
wlLh lnLerrupLed /0 longLerm absorbable suLures
@hese suLures alsoLake a blLe of Lhe posLerlor recLal
wall ln order Lo anchor Lhe recLum ln a good poslLlon
Lo avold reLracLlon and/or prolapse
@he resL of Lhe lnclslon ls closed
meLlculously reapproxlmaLlng all Lhe layers
of Lhe wound An anoplasLy ls performed
wlLh 16 clrcumferenLlal sLlLches of 6/0 long
Lerm absorbable suLures Lrlmmlng off LhaL
parL of Lhe recLum LhaL has been damaged
or does noL have adequaLe blood supply
RectoBladder Neck Fistula
W AssoclaLed defecLs occur ln
90 usually Lhe sacrum ls
hypodeveloped lL ls Lhe
only one LhaL ln order Lo be
repalred requlres noL only a
posLerlor saglLLal approach
buL also an abdomlnal one
elLher by laparoLomy or
laparoscopy
1ota| body preparat|on ls Lo be performed (access Lo Lhe perlneum and Lo
Lhe abdomen) @he ls sLarLed vla a poster|or sag|tta| approach All Lhe
sphlncLer mechanlsms are dlvlded ln Lhe mldllne A rubber Lube ls placed
ln Lhe presacral space behlnd Lhe ureLhra and locaLed followlng Lhe LracL
Lhe recLum wlll subsequenLly occupy @he perlneal body Lhe posLerlor
edge of Lhe levaLor muscle as well as Lhe muscle complex are
reconsLrucLed around Lhe rubber Lube LhaL represenL Lhe recLum @he
paLlenL ls Lhen Lurned onLo a suplne poslLlon and a laparoLomy ls
performed @he bladder ls pulled anLerlorly and Lh recLoslgmold ls found
(wlLhln 1 Lo 2 cm below Lhe perlLoneal reflecLlon ) @he recLum opens lnLo
Lhe bladder neck ln a @ fashlon @he flsLula ls dlvlded and Lhe bladder end
ls suLured wlLh lnLerrupLed longLerm absorbable suLures @he rubberLube
ls easlly found ln Lhe presacral space @he legs are llfLed up and Lhe rubber
Lube ls pulled down pulllng LogeLher Lhe recLum LhaL wlll be placed
W ln Lhe deslred locaLlon @he anoplasLy ls performed as prevlously
descrlbed and Lhe abdomen ls closed
mperforate Anus ithout Fistula.
W @hls malformaLlon only
happens ln of all
cases and half of Lhese
W have uown's syndrome
Female defects and it's mx
kectoper|nea| I|stu|a kectovest|bu|ar I|stu|a
Cloaca.
total urogenital mobilization
Postoperative management
W @he posLerlor saglLLal lnclslon ls relaLlvely palnless
8ecLoureLhral flsLula Lhe loley caLheLer usually sLays
ln place for approxlmaLely 7 days
W lf Lhe colosLomy ls unLouched durlng Lhe operaLlon
and no laparoLomy was necessary oral feedlngs may
be sLarLed lmmedlaLely posLoperaLlvely lf a
laparoLomy was necessary Lhe paLlenL may requlre a
perlod of fasLlng and nasogasLrlc decompresslon
W AL 2 weeks' posL operaLlon anal callbraLlon ls performed
followed by a program of anal dllaLaLlons @he anus musL be
dllaLed tw|ce dally and Lhe slze of Lhe dllaLor ls lncreased
every week @he f|na| s|ze to be reached depends on Lhe age
of Lhe paLlenL Cnce Lhe deslred slze ls reached Lhe colosLomy
can be closed
W ullaLaLlons are conLlnued afLerward accordlng Lo a prescrlbed
proLocol
W ullaLaLlons are a vlLal parL of Lhe posLoperaLlve managemenL
Lo avold a sLrlcLure aL Lhe anoplasLy
Size of ilator According to Age
age negar D||ator (No)
14 mo 12
412 mo 13
812 mo 14
13 yr 1
312 yr 16
12 yr 17
@he frequency of dllaLaLlons may be reduced once Lhe
dllaLor goes ln easlly wlLh no paln AfLer LhaL
ullaLaLlon schedule ls as follows
At |east once a day for 1 month
Lvery th|rd day for 1 month
1w|ce a week for 1 month
Cnce a week for 1 month
Cnce a month for 3 months
Postoperative functional disorders
ConsLlpaLlon ls Lhe mosL frequenL problem encounLered
afLer LreaLmenL for lmperforaLe anus ln whlch Lhe recLum has
been preserved ln female
W @he orlgln of Lhe problem of consLlpaLlon ls unknown Crlglnally Lhe
per|recta| d|ssect|on was LhoughL Lo cause a degree of denervaLlon LhaL
resulLed ln consLlpaLlon Powever on careful revlew of Lhe largesL serles
of Lhese paLlenLs Lhose wlLh Lhe mosL benlgn defecLs and Lherefore Lhe
leasL amounL of perlrecLal dlssecLlon had Lhe worsL consLlpaLlon
W @he presence of a megarecLum before Lhe pullLhrough correlaLes wlLh
posLoperaLlve consLlpaLlon MegarecLum ls more common ln paLlenLs who
underwenL a Lransverse or loop colosLomy durlng Lhe newborn perlod
W ConsLlpaLlon appears Lo be a hypomoLlllLy dlsorder secondary Lo chronlc
bowel dllaLaLlon or perhaps Lhe hypomoLlllLy causes Lhe dllaLaLlon
ullaLaLlon causes consLlpaLlon creaLlng a vlclous cycle
W Comp||cat|on
W CompllcaLlons of surgery lnclude dehlscence and lnfecLlon @hese
compllcaLlons can be avolded by colosLomy before Lhe maln repalr
@he ouLcome for 1192 paLlenLs who underwenL
Lhls procedure was recenLly revlewed by 9ena
and Pong SevenLyflve percenL of paLlenLs
were found Lo have volunLary bowel
movemenLs and nearly 40 were consldered
LoLally conLlnenL As a rule Lhe lncldence of
lnconLlnence ls lncreased ln paLlenLs wlLh hlgh
leslons whereas Lhose wlLh low leslons are
more llkely Lo be consLlpaLed
Laparoscopic
9aLlenL ls operaLed on ln Lhe suplne poslLlon and Lhe
recLum ls moblllzed down Lo Lhe flsLulous connecLlon Lo Lhe
bladder neck @hls flsLulous connecLlon ls Lhen dlvlded and
Lhe recLum ls compleLely moblllzed Lo below Lhe perlLoneal
reflecLlon @he operaLlon Lhen proceeds aL Lhe perlneum and
Lhe locaLlon of Lhe muscle complex ls deLermlned uslng a
nerve sLlmulaLor A veress needle ls Lhen advanced Lhrough
Lhe skln aL Lhe lndlcaLed slLe wlLh Lhe laparoscope provldlng
guldance Lo Lhe exacL lnLrapelvlc orlenLaLlon ullaLors are Lhen
placed over Lhe veress needle Lhe recLum ls pulled Lhrough
Lhls perlLoneal openlng and an anoplasLy ls performed
hen in doubt???
lf Lhere ls any doubL abouL Lhe Lype of
leslon lL ls safer Lo perform a colosLomy
raLher Lhan [eopardlze Lhe lnfanLs long
Lerm chances for conLlnence by an
ln[udlclous perlneal operaLlon
own syndrome
chromosomal condlLlon characLerlzed by Lhe presence of an exLra copy of
geneLlc maLerlal on Lhe 21sL chromosome elLher ln whole (Lrlsomy 21) or
parL (such as due Lo LranslocaLlons)
lnCluLnCL 1 per 800 Lo one per 1000 blrLhs

8lSk
lAC@C8S
W 1 Materna| age
W 20 Lo 24 1 ln 162
3 Lo 39 1 ln 214
above age 4 one ln 19
2 9aLernal age especlally beyond 42
W CurrenL research (as of 2008) has shown LhaL uown syndrome
ls due Lo a random evenL durlng Lhe formaLlon of sex cells or
pregnancy @here has been no evldence LhaL lL ls due Lo
parenLal behavlor (oLher Lhan age) or envlronmenLal facLors
Character|st|cs ercentage Character|st|cs ercentage
menLal reLardaLlon 100 small LeeLh 60
sLunLed growLh 100 flaLLened nose 60
aLyplcal flngerprlnLs 90 cllnodacLyly 2
separaLlon of Lhe
abdomlnal muscles
80 umblllcal hernla 1
flexlble llgamenLs 80 shorL neck 0
hypoLonla 80 shorLened hands 0
brachycephaly 7 congenlLal hearL
dlsease
4
smaller genlLalla 7 slngle Lransverse
palmar crease
4
eyelld crease 7 Macroglossla (larger
Longue
43
shorLened exLremlLles 79 eplcanLhal fold 42
oval palaLe 69 SLrablsmus 40
lowseL and rounded ear 60 8rushfleld spoLs (lrls 3
Associated anomalies
1 Congen|ta| heart d|sease 0

Av sepLal defecL also known as endocardlal cushlon defecL ls Lhe mosL


common form wlLh up Lo 40 of paLlenLs affecLed followed by venLrlcular
sepLal defecL LhaL affecLs approxlmaLely 30 of paLlenLs
2 PemaLologlc mallgnancles such as leukemla are more common acuLe
lymphoblasLlc leukemla ls aL leasL 10 Llmes more common ln uS and for
Lhe megakaryoblasLlc form of acuLe myelogenous leukemla ls aL leasL 0
Llmes more common ln uS solld Lumor mallgnancles are less common ln
uS posslbly due Lo lncreased numbers of Lumor suppressor
genesconLalned ln Lhe exLra geneLlc maLerlal
3 PypoLhyroldlsm ls mosL common Lhls can be due Lo absence of Lhe
Lhyrold aL blrLh (congenlLal hypoLhyroldlsm) or due Lo aLLack on Lhe
Lhyrold by Lhe lmmune sysLem
4 Gastro|ntest|na| uS lncreases Lhe rlsk of Plrschsprungs dlsease whlch
resulLs ln severe consLlpaLlon CLher congenlLal anomalles occurrlng more
frequenLly ln uS lnclude duodenal aLresla annular pancreas and
|mperforate anus CasLroesophageal reflux dlsease and cellac dlsease are
also more common among people wlLh uS
S Infert|||ty
W @here ls lnferLlllLy among boLh males and females wlLh uown syndrome
males are usually unable Lo faLher chlldren whlle females demonsLraLe
slgnlflcanLly lower raLes of concepLlon relaLlve Lo unaffecLed lndlvlduals
Women wlLh uS are less ferLlle and ofLen have dlfflculLles wlLh
mlscarrlage premaLure blrLh and dlfflculL labor WlLhouL prelmplanLaLlon
geneLlc dlagnosls approxlmaLely half of Lhe offsprlng of someone wlLh
uown syndrome also have Lhe syndrome LhemselvesMen wlLh uS are
almosL unlformly lnferLlle exhlblLlng defecLs ln spermaLogenesls @here
have been only Lhree recorded lnsLances of males wlLh uown syndrome
faLherlng chlldren
6 Neuro|ogy lncreased rlsk for developlng epllepsy @he rlsk for Alzhelmers
dlsease ls lncreased ln lndlvlduals wlLh uS wlLh 102 of lndlvlduals wlLh
uS showlng slgns of Au before age 0 up Lo 0 wlLh cllnlcal sympLoms ln
Lhe slxLh decade and up Lo 7 ln Lhe 7Lh decade @hls sharp lncrease ln
Lhe lncldence and prevalence of demenLla may be one of Lhe facLors
drlvlng Lhe decreased llfe expecLancy of persons wlLh uown syndrome
7 Cphtha|mo|ogy and oto|aryngo|ogy
W Lye dlsorders are more common ln people wlLh uS AlmosL half have
sLrablsmus ln whlch Lhe Lwo eyes do noL move ln Landem 8efracLlve
errors requlrlng glasses or conLacLs are also common CaLaracLs (opaclLy of
Lhe lens) keraLoconus (Lhln coneshaped corneas) and glaucoma
(lncreased eye pressures) are also more common ln uS 8rushfleld spoLs
(small whlLe or graylsh/brown spoLs on Lhe perlphery of Lhe lrls) may be
presenL
W 8 near|ng |oss
W 3878 lncldence of hearlng loss ln chlldren wlLh uown syndrome
chlldren
818283
The association of low imperforate anus and own's
syndrome.( http://www.ncbi.nlm.nih.gov/pubmed/2S24S63)
Black CT, Sherman ]O
Source
ulvlslon of 9edlaLrlc Surgery unlverslLy of @exas Medlcal School PousLon
77030
Abstract
W uowns syndrome ls Lhe mosL frequenL chromosomal anomaly ln humans
and ls assoclaLed wlLh an lncldence of anorecLal anomalles many Llmes
greater than LhaL found among Lhe general populaLlon @he anorecLal
malformaLlon assoclaLed wlLh uowns syndrome un|form|y cons|sts of a
|ow|y|ng recta| pouch w|thout a gen|tour|nary or per|nea| f|stu|a @hls
Lype of lmperforaLe anus may ofLen be adequaLely LreaLed by slmple
perlneal anoplasLy Slnce our recognlLlon of Lhls assoclaLlon several
neonaLes have avolded Lemporary fecal dlverslon and several older
lnfanLs wlLh colosLomles have noL requlred anLlclpaLed pullLhrough
procedures
W