Clinical, Biochemical and Radiological Features of an Infant Affected by Leigh Disease - A Case Report
Journal Title: Open Access Journal of Endocrinology - Year 2017, Vol 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.
Authors and Affiliations
Aruna G
Keywords
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- EP ID EP448442
- DOI 10.23880/oaje-16000104
- Views 86
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