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Hypertrichosis in presymptomatic mitochondrial disease.

Authors
Type
Published Article
Journal
Journal of Inherited Metabolic Disease
1573-2665
Publisher
Springer-Verlag
Publication Date
Volume
36
Issue
6
Pages
1081–1082
Identifiers
DOI: 10.1007/s10545-013-9593-3
PMID: 23408181
Source
Medline
License
Unknown

Abstract

Leigh syndrome is a neurometabolic disorder commonly associated with disturbed oxidative phosphorylation, which leads to bilateral symmetric necrotizing lesions in the central nervous system. Neurological symptoms may be accompanied by cutaneous abnormalities. Here, we present images of distinct hypertrichosis in an otherwise asymptomatic one-year-old patient with pathogenic SURF1 gene mutations. We conclude that, if Leigh syndrome is suspected, the presence of characteristic hypertrichosis should prompt SURF1 mutation analysis.

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