This Article Full Text (PDF) References Alert me when this article is cited Alert me if a correction is posted Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Add to Saved Citations Download to citation manager Request Permissions Request Reprints Add to My Marked Citations Citing Articles Citing Articles via Google Scholar Citing Articles via Scopus Google Scholar Articles by Tsao, C.-Y. Articles by Rusin, J. Search for Related Content PubMed PubMed Citation Articles by Tsao, C.-Y. Articles by Rusin, J. Social Bookmarking                         What's this?

Leigh Disease With Mitochondrial DNA A8344G Mutation: Case Report and Brief Review

Departments of Pediatrics and Neurology The Ohio State University ctsao{at}chi.osu.edu

Gail Herman

Departments of Pediatrics and Human Genetics The Ohio State University

Daniel R. Boué

Department of Pathology The Ohio State University

Thomas W. Prior

Departments of Pathology and Neurology The Ohio State University

Warren D. Lo

Departments of Pediatrics and Neurology The Ohio State University

Joan F. Atkin

Departments of Molecular and Human Genetics The Ohio State University

Jerome Rusin

Children's Radiological Institute Children's Hospital Columbus, Ohio

Leigh disease, subacute necrotizing encephalomyelopathy, is a neurodegenerative disorder often seen in infancy or childhood but rarely reported in adults. Genetic heterogeneity is well recognized, and the associated etiologies include both mitochondrial and nuclear DNA defects. We describe an infant presenting with developmental delay and then progressive multisystem disorder and neuroradiologic features of Leigh disease. He and his maternal relatives all have the A8344G mitochondrial DNA mutation. However, only minor clinical features are seen in his maternal relatives, with migraine being the most common problem. Additionally, the A8344G mitochondrial DNA mutation is associated with spinocerebellar degeneration, other nonspecific mitochondrial encephalomyopathies, atypical Charcot-Marie-Tooth disease, and progressive external ophthalmoplegia. The A8344G mitochondrial DNA mutation may present with Leigh disease or other different atypical clinical features without myoclonic epilepsy and ragged red fibers. (J Child Neurol 2003; 18: 62—64).

Journal of Child Neurology, Vol. 18, No. 1, 62-64 (2003)
DOI: 10.1177/08830738030180011401


CiteULike    Complore    Connotea    Del.icio.us    Digg    Reddit    Technorati    Twitter    What's this?