Leigh Syndrome in an Adolescent Girl: A Case Report

Leigh syndrome (LS) is a disorder of infancy and rarely late childhood. It presents with regression of mental and motor skills. Here, we present LS in an adolescent girl who presented with generalized dystonia and cognitive decline. Her infective, metabolic, endocrinal and autoimmune work up was nor...

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Bibliographic Details
Published in:Journal of the Institute of Medicine 2020-08, Vol.42 (2), p.91-93
Main Authors: Shrestha, Merina, Bajracharya, Luna, Basnet, Sudha
Format: Article
Language:English
Online Access:Get full text
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Summary:Leigh syndrome (LS) is a disorder of infancy and rarely late childhood. It presents with regression of mental and motor skills. Here, we present LS in an adolescent girl who presented with generalized dystonia and cognitive decline. Her infective, metabolic, endocrinal and autoimmune work up was normal. The neuroimaging showed progressive symmetric involvement of basal ganglia with focal intensity over bilateral lentiform nucleus and thalamic region. The cerebrospinal fluid (CSF) lactate level was elevated. Genetic test could not be performed; however the history of neuro-regression with extrapyramidal involvement with CSF and neuroimaging finding led to the diagnosis of Leigh’s syndrome.
ISSN:1993-2979
1993-2987
DOI:10.59779/jiomnepal.1119