Meckel-Gruber syndrome

Case contributed by Dr Shazia Wasim Khan

Presentation

G1P0 at 17 weeks for routine antenatal scan.

Patient Data

Age: 25 years
Gender: Female

Meckel-Gruber syndrome

ultrasound

The fetal abdomen shows markedly enlarged kidneys with multiple diffuse cystic lesions on both sides.The abdomen is consequently protruberant .

Occipital encephalocele is noted.

Both lungs are hypoplastic.

Fetal spine and heart were normal.

Polydactyly was not present [not shown].

Liquor volume is markedly reduced.

Case Discussion

Meckel Gruber syndrome is a rare lethal hereditary disorder with an autosomal recessive inheritance.

The disorder is characterized by a triad of bilateral polycystic kidneys, encephalocele and postaxial polydactyly. The disorder can be associated with many other features like cleft lip/palate, ventricular septal defects, single vessel cord. Antenatal ultrasound can establish the diagnosis by identifying at least two major features.

Trisomy 13 shows several similar sonographic features and must be excluded by karyotyping.

The recurrence rate is about 25%, so the parents should be adequately counseled regarding subsequent pregnancies.

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