SANDO: another presentation of mitochondrial disease.

Published

Journal Article

PURPOSE: To describe a unique mitochondrial syndrome that may present with the combination of ocular manifestations, sensory symptoms, and speech dysfunction. DESIGN: Case report. METHODS: Case report and review of the literature. RESULTS: A 43-year-old man presented with a Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis (SANDO). Nerve conduction studies showed a sensory ganglionopathy. Skeletal muscle biopsy revealed ragged red fibers, and polymerase chain reaction analysis of the tissue demonstrated multiple mitochondrial DNA deletions. CONCLUSION: Mitochondrial disease should be considered in cases of external ophthalmoplegia, especially if a sensory ganglionopathy and dysarthria are present.

Full Text

Cited Authors

  • Okun, MS; Bhatti, MT

Published Date

  • May 2004

Published In

Volume / Issue

  • 137 / 5

Start / End Page

  • 951 - 953

PubMed ID

  • 15126171

Pubmed Central ID

  • 15126171

International Standard Serial Number (ISSN)

  • 0002-9394

Digital Object Identifier (DOI)

  • 10.1016/j.ajo.2003.10.046

Language

  • eng

Conference Location

  • United States