Medical Case Reports

Exceptional Case of Healthy Precious Infant Surviving with Meckel-Gruber Syndrome Variant

Meckel-Gruber Syndrome (MGS), also known as Dysencephalia Splanchnocystica is a fatal
autosomal recessive congenital disorder designated as a triad of Renal Cystic Dysplasia,
Occipital Encephalocele and Postaxial Polydactyly. It is correlated with broad spectrum of
systemic malformations. Death typically occurs in utero or shortly after birth. The Worldwide
incidence fluctuates to occur in 1 in 13,250 to 1, 40,000 live births. Phenotypic Variations are
reported as well, in which one could present with any two of the cardinal features of MGS.
Here we are presenting an exceptional and rare case of healthy baby who presented to us
with occipital encephalocele and unilateral multicystic dysplastic kidney considered to have a
variant of Meckel-Gruber syndrome

Author(s):

Rabiya Siraj* Rana Rehan, Sadaf Nasir, Bisma Rizwan, Mahum zaidi and Kanchan shadani

Abstract | Full-Text | PDF

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