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Dr Irfan A. Kazi MD[RD]Radiologist,
Sonosquare Ultrasound Clinic, Hyderabad
IntroductionMeckel Gruber syndrome is a rare autosomal recessive
condition with reported incidence of 2-7 per 1 million births
It is characterised by the triad of :-Renal cysic dysplasia [95-100%]Encephalocele [60-80%]Post axial polydactyly [55-75%]
At least 2 of these features when seen in a fetus with normal karyotype are diagnostic of this syndrome
Clinical presentationA 23 yr old primigravida [with consanguineous
marriage] presented to our clinic for routine antenatal checkup at 15 wks of gestation.
USG done on this patient revealed enlarged kidneys showing numerous cysts & occipital encephalocele
There was no polydactyly. No other abnormalities were noted as per the
gestational age of the fetus Liquor was adequate for gestational age.The fetal karyotyping done did not reveal any
chromosomal anomalyThus a diagnosis of Meckel Gruber Syndrome was
made
Enlarged kidneys are seen which are showing numerous small cysts..
The AC is also consequently increased
Occipital encephalocele with herniation of brain is seen
CNS abnormalities:
Microcephaly, Dandy walker malformationAgenesis of corpus callosumHoloprosencephalyventriculomegaly
This triad may be associated with :-
Facial malformations:
Cleft lip/palateMicrognathiaMicrophthalmiaEar malformationsSloping forehead
Cardiac anomalies:
Septal defectsCoarctation of aorta
Other anomalies:
Small bell shaped chestHepatic fibrosisCryptorchidismAmbiguous genitalia
Trisomy 13
Renal anomalies: in 50%Cystic dysplasia Kidneys may be large, but typically smaller than in meckel gruber syndrome
CNS:Holoprosencephaly in 40%Encephalocele- less common
Extremities:Post axial polydactyly in 75%
Other facial & cardiac anomalies may be seen
Autosomal recessive polycystic kidney disease• Does not have associated encephalocele/polydactyly
Multicystic dysplastic kidney•If it is bilateral -does not have associated encephalocele/polydactyly
Encephalocele•Isolated or with other syndromes-kidneys & extremities are normal
Prognosis & workup Take home message !
It is a lethal condition
Oligohydramnios leads to pulmonary hypoplasia
Most are still born or die within few hours
Karyotyping is done to exclude trisomy 13
Renal cystic dysplasiaEncephalocelePost axial polydactylyAt least 2 features of this triad,
when seen in a fetus with normal karyotype are diagnostic of Meckel Gruber syndrome
USG is an immensely useful tool for identifying this lethal condition
Genetic counselling should be done as there is 25% chance of recurrence