Jacobs Journal of Clinical Case Reports

Meckel-Gruber Syndrome, Case-Report

Published on: 2018-12-03


Meckel-Gruber Syndrome (MGS) is a lethal autosomal recessive disorder characterized by anomalies of the central nervous system resulting in mental retardation, cystic dysplasia of the kidneys, and malformations of the hands and feet. In this report, we present a case of MGS, whose ultrasonographic findings containing the typical triad of the disease (encephalocele, polycystic kidneys, and polydactyly). 33 year old, Gravida 2 Parite 1, patient admitted to our clinic first time. Typical ultrasonographic findings including occipital encephalocele, bilateral cystic kidneys, oligohydramnios and polydactyly were observed. The family did not approve the genetic or pathologic investigation after the termination of the pregnancy. Therefore the diagnosis of MGS was based on prenatal and postnatal features. Most infants with MGS are stillborn or die within few hours or days after birth. It is important to remember that MGS is an autosomal recessive disorder that can repeat itself 25% between siblings, it would be prudent to give this information to families aswell.