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

Journal: Open Access Journal of Endocrinology (Vol.1, No. 1)

Publication Date:

Authors : ; ;

Page : 1-4

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

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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.

Last modified: 2018-09-29 19:00:05