Meckel’s Gruber With Dandy-Walker Syndrome

Abstract

Background: Meckel-Gruber syndrome (MGS) is a classic triad of occipital encephalocele, postaxial polydactyly and dysplastic cystic kidney with or without other associated malformations. Dandy-Walker malformation (DWM) is the association of three signs: hydrocephalus, partial or complete absence of the cerebellar vermis, and posterior fossa cyst contiguous with the fourth ventricle. Methodology: A 30 weeks dead fetus fixed in formalin was sent at Genetic Health And Research Center, Nasik for further evaluation. It was diagnosed by ultrasonography as Dandy walker syndrome with multiple congenital anomalies. Autopsy finding confirmed that it was Meckel’s Gruber syndrome. Results & Discussion: Meckel-Gruber syndrome is extremely heterogenous syndrome with six different loci and it inherits in families as autosomal recessive disease with 25% of chance of recurrence in each pregnancy. MGS affects multiple organ systems of the body leading to many other pathological conditions such as Arnold-Chiari malformation or Dandy-Walker malformation. It is suggested to be caused by failure of the mesodermal induction leading to ciliopathies caused by dysfunction of cilia. The occurrence of a Dandy-Walker malformation in Meckel-Gruber syndrome confirms disturbance in rhombencephalon development and such variants are very uncommon. Many cases of Dandy Walker Syndome as such have been published throughout but Dandy Waker associated with Meckel’s Gruber Syndrome is extremely rare. Conclusion: We propose that proper autopsy of all still birth should be conducted to guide parents for possible risks in subsequent pregnancies. Prenatal and postnatal counseling and prenatal diagnosis should be encouraged in all disease prone cases. [Ambekar S et al NJIRM 2015; 6(3):125-130]