Clinical, Biochemical and Radiological Features of an Infant Affected by Leigh Disease - A Case Report

Authors: Aruna G*, Vykuntaraju KG, Ramesh RL and Basavaraja GV

DOI: 10.23880/oaje-16000104

Volume 1, Issue 1

Abstract

Leigh disease, also known as subacute necrotising encephalomyelopathy (SNE), is a rare inherited progressive neurometabolic life threatening mitochondrial disorder. Early diagnosis and early treatment will help in reducing both morbidity and mortality associated with this disorder. We report a 2.5 months old Indian infant with clinical, biochemical and radiological features of Leigh Disease. This is the first case report of a child with Leigh Disease of early onset

Keywords: Leigh disease; Choreoathetosis; Globus pallidus; Genetic heterogeneity

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