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MulibreyNanism
SynonymsofMulibreyNanism
MuscleliverbrainNanism
PerheentupaSyndrome
PericardialConstrictionandGrowthFailure

GeneralDiscussion
Mulibreynanismisanextremelyrareautosomalrecessivegeneticdisordercharacterizedbyprofoundgrowthdelaysanddistinctive
abnormalitiesofthemuscles,liver,brain,andeyes.TheacronymMULIBREYstandsfor(MU)scle,(LI)ver,(BR)ain,and(EY)e.Nanism
isanotherwordfordwarfism.Acharacteristicfeaturenotincludedintheoriginalacronymistheovergrowthofthefibroussacthat
surroundstheheartrestrictingnormalfillingoftheheart(constrictivepericarditis).
Characteristicsymptomsmayincludelowbirthweight,shortstature,andsevereprogressivegrowthdelays.
Musclesareusuallyunderdevelopedandlacknormaltone(hypotonia).
Someinfantswiththisdisordermayhaveanabnormallylargeliver(hepatomegaly).
Infantstypicallyhaveyellowdiscolorationintheireyes.

Signs&Symptoms
Mulibreynanismischaracterizedbyprogressivegrowthfailurethatbeginsprenatally.Musclehypotoniaisfrequentlyseenand
newbornsoftenhavecharacteristicabnormalitiesoftheheadandfaceincludingatriangularlyshapedface.Yellowdiscolorationdeep
withintheeyes(ocularfundi)andotherocularabnormalitiesmaybepresentbutvisionisusuallynormal.Thevoiceischaracteristically
highpitched.Morethan90percentofaffectedindividualshaveaJshapedsellaturcica,whichisadepressioninthesphenoidboneat
thebaseoftheskull.
Infantswithmulibreynanismmayalsoexhibitsymptomsrelatedtoovergrowthofthefibroussacsurroundingtheheart(constrictive
pericarditis).Whenconstrictivepericarditisispresentatbirth,affectedinfantsmayhaveabluishdiscolorationoftheskin(cyanosis),
especiallyonthelipsandfingertips.
Othersymptomsmayincludeabnormallyprominentveinsintheneck,congestioninthelungs,abnormalfluidaccumulationinthe
abdomen(ascites),swellingofthearmsand/orlegs(peripheraledema),and/orenlargementoftheheart(cardiachypertrophy)and/or
liver(hepatomegaly).Theremayalsobeelevatedpressureintheveins,congestionorblockageinthemainarteryservingthelungs
(pulmonaryartery),and/orabuildupoffibroustissueinthewallsofthelungs(pulmonaryfibrosis).Associatedcomplicationsofthese
conditionsmayleadtocongestiveheartfailure.
Insomecases,individualswithmulibreynanismmayhaveadditionalphysicalabnormalities,suchasanunusuallythinshinbone
(fibroustibiadysplasia).Largecerebralventriclesinthebrainanddelayedmotordevelopmentareuncommonfindings.Mostaffected
individualshavenormalintelligence.
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Individualswithmulibreynanismoftenhaveunderdevelopmentofvariousendocrineglandsthatleadstohormonedeficiencies.Delayed
pubertysometimesoccursaccompaniedbyinfrequentorverylightmenstrualperiods.Femaleshaveanincreasedriskforpremature
ovarianfailureandovariantumors.

Causes
MulibreynanismiscausedbyanabnormalityintheTRIM37genelocatedonchromosome17at17q22q23andisinheritedasan
autosomalrecessivegeneticdisorder.

AffectedPopulations
Mulibreynanismisanextremelyraredisorderthataffectsmalesandfemalesinequalnumbers.

StandardTherapies
Mulibreynanismmaybediagnosedatbirthbyathoroughclinicalevaluation,characteristicphysicalfindings,andspecializedtests.
Suchtestsmayincludexraystudies,whichmayshowabnormalcalciumdepositsinthesacsurroundingtheheart(pericardium)
studiesmeasuringtheelectricalactivityoftheheart(electrocardiogramsorEKGs)and/orexaminationwithadevicethatvisualizesthe
interioroftheeyewhichmaydetectocularabnormalities.MoleculargenetictestingfortheTRIM37geneisavailabletoconfirmthe
diagnosis.
Treatment
Constrictivepericarditismaybetreatedwithsurgery.Diureticsanddigoxinmaybeprescribedforprogressiveheartfailure.Hormone
replacementtherapyshouldbeofferedtochildrenwithgrowthhormonedeficiency,delayedpuberty,infrequentorverylightmenstrual
periods,hypothyroidism,hypoadrenocorticismandabnormalovariesortestes.Femaleswithmulibreynanismshouldbemonitored
closelyforovariantumors

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