Publication: Leigh Syndrome in an Adolescent Girl: A Case Report
Date
2020
Journal Title
Journal ISSN
Volume Title
Publisher
Institute of Medicine
Abstract
ABSTRACT
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.
Keywords: neuro-metabolic, regression, MRI
Description
Merina Shrestha, Luna Bajracharya, Sudha Basnet
Department of Child Health, Maharajgunj Medical Campus, Tribhuvan University Teaching Hospital, Institute of Medicine, Maharajgunj, Kathmandu
Keywords
neuro-metabolic, regression, MRI