A Rare Case Report of Maple Syrup Urine Disease Associated with Dandy Walker Syndrome

¹Lebanese University, Faculty of Medical Sciences, Pediatrics Department, Lebanon

*Corresponding author: Bassem Abou Merhi, MD, Associate Professor of Clinical Pediatrics, Lebanese University-Faculty of Medical Sciences, Department of Pediatric, Beirut, Lebanon; Email: [email protected] Tel:  0096170722205.

Received: December 09, 2021

Published: December 24, 2021 

Citation: Abou Merhi B, et al. (2021). A Rare Case Report of Maple Syrup Urine Disease Associated with Dandy Walker Syndrome. Neonatal. 2(1):05                     

Copyright: Abou Merhi B, et al. © (2021). T    

INTRODUCTION

Dandy-Walker malformation is a rare neurological and imaging manifestation [1]. It can affect 1 in 10000 to 30000 newborns [2]. It involves the cerebellar vermis and fourth ventricle [1] and characterized by ventriculomegaly, agenesis of the cerebellar vermis, enlargement of the posterior fossa, hydrocephalus and elevated tentorium cerebelli [3,4]. Maple Syrup Urine Disease (MSUD) is an autosomal recessive metabolic disorder result from defect in the branched-chain α-ketoacid dehydrogenase complex, and contribute to increase the level of the branched-chain amino acids (BCAAs) (leucine, isoleucine, and valine) in plasma, α-ketoacids in urine, and production of the pathognomonic disease marker, alloisoleucine [5]. MSUD is estimated to affect 1 in 185000 infants in the world, frequently the Mennonite population [6]. This can lead to irreversible neurological complications [5]. We here report an unusual presentation of Maple syrup urine disease (MSUD) in an 18-month-old girl presented with Dandy-Walker malformation.

Keywords: Maple syrup urine disease (MSUD), branched-chain amino acids (BCAAs)