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July 2004, Volume 54, Issue 7

Case Reports

First Trimester Diagnosis of Meckel Gruber Syndrome in Pregnancy

S. Munim  ( Department of Obstetrics and Glynaecology, Aga Khan University Hospital, Karachi )
S. Nadeem  ( Department of Obstetrics and Glynaecology, Aga Khan University Hospital, Karachi )
R.Sikandar  ( Department of Obstetrics and Glynaecology, Aga Khan University Hospital, Karachi. )

Meckel Gruber syndrome was originally described by Meckel in 1822, later by Gruber and more recently by Opitz and Howe.1 It is a lethal autosomal recessive disorder characterized by the triad of encephalocele, polycystic kidneys and polydactyly. Prenatal ultrasonographic diagnosis of this condition has been reported extensively during the second and third trimeter. In the low risk population the estimated prevalence of the condition is about 1 in 20,000 pregnancies.2 The disorder is more frequently encountered in the children of consanguineously married couples. The prevalence of this disorder in Pakistan is expected to be higher as the recent Pakistan Demographic and Health. Survey (DHS) shows that almost two-thirds of marriages in Pakistan are consanguineous.3

A case of Meckel Gruber Syndrome diagnosed by ultrasound examination is presented.

Case Report

A 35 years old gravida 5, para 4, was referred at 11 weeks gestation for ultrasound at our fetal medicine unit. The indication for the ultrasound was her previous history of a baby at 28 weeks with microcephaly, polydactyly and polycystic kidney.

The ultrasound examination performed at 11 weeks 6 days revealed a single fetus corresponding to dates. The Crown Rump Length (CRL) was 55.3 mm. In addition to the anomaly survey revealed encephalocoele and hyperechogenic kidneys. Bladder and stomach were not visible. Hands and feet were visible but polydactyly was not appreciated. The nuchal translucency measurement at this stage was found to be 5.2 mm. In view of above findings the provisional diagnosis of Meckel Gruber syndrome was made. She was counseled for an invasive test, which she declined and instead opted for a repeat ultrasound scan in two weeks.

A repeat scan was performed at 15 weeks, which showed fetus corresponding to 15 weeks of gestation. The amniotic fluid appeared normal at this stage and the placenta was posterior high. Encephalocele and enlarged echogenic kidneys were reconfirmed. The parents were counseled of the likely diagnosis of Meckel Gruber syndrome. Following counseling the parents opted for termination of pregnancy.

Extra-amniotic termination-of-pregnancy using Prostaglandin F2 alpha was carried out. A fetus weighing 65 grams baby, with encephalocele, polydactyly in both hands and feet with short extremities was born (Figures 2 and 3). The diagnosis of Meckel Gruber syndrome was confirmed clinically. The couple refused for an autopsy.

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