SANDO: Another presentation of mitochondrial disease

被引:6
作者
Okun, MS
Bhatti, MT
机构
[1] Univ Florida, Coll Med, Dept Ophthalmol, Gainesville, FL 32610 USA
[2] Univ Florida, Coll Med, Dept Neurol, Gainesville, FL 32610 USA
[3] Univ Florida, Coll Med, Dept Neurosurg, Gainesville, FL 32610 USA
关键词
D O I
10.1016/j.ajo.2003.10.046
中图分类号
R77 [眼科学];
学科分类号
100212 ;
摘要
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.
引用
收藏
页码:951 / 953
页数:3
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