PRENATAL DIAGNOSIS OF MECKEL GRUBER SYNDROME PRESENTING WITH ENCEPHALOCELE: REPORT OF A CASE

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OBJECTIVES: To describe a case of Meckel-Gruber syndrome presenting prenatally with an extreme clinical picture con-sisting of encephalocele and severe oligohydroamnios. METHODS: Routine antenatal ultrasonographic examination at 15 weeks of gestation in a 21 years old woman revealed a posterior occipital encephalocele and severe oligohydramniosis, rising the suspicion of bilateral renal agenesis. RESULTS: Postmortem fetal evaluation conŞrmed the prenatal Şndings and also revealed a small omphalocele and hepatic Şbrosis, allowing the diagnosis of Meckel-Gruber syndrome. CONCLUSION: Renal agenesis, omphalocele and encephalocele are frequently detected Şndings at prenatal diagnosis. Patients with at least two of the above Şndings in association have been described, but nearly all of such cases had addi-tional dysmorphic features indicating a recognizable syndrome. The Şndings in our case were not concordant with any other recognizable syndrome, and liver Şbrosis was detected at autopsy allowing the diagnosis of Meckel-Gruber syndrome. The concurrence of any kind of central nervous system abnormality and bilateral renal agenesis should initiate a search for Şbrosis of the liver indicative of the Meckel-Gruber syndrome.

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