Yonsei Med J.  1990 Sep;31(3):274-279. 10.3349/ymj.1990.31.3.274.

A case of Leigh's disease with initial manifestation of dystonia

Affiliations
  • 1Department of Neurology, Yonsei University College of Medicine, Seoul, Korea.
  • 2Department of Pathology, Seoul National University College of Medicine, Seoul, Korea.

Abstract

A case of Leigh's disease (subacute necrotizing encephalomyelopathy) is reported with such noteworthy features as early onset, dystonia, paraparesis the presence of low attenuation areas in both basal ganglias on computerized tomography of the brain and the presence of a high signal intensity in both basal ganglias in T2 weighted image by MR. The electron microscopic findings of muscle biopsy are suggestive of pleoconial mitochondrial myopathy.

Keyword

Leight's disease; subacute necrotizing encephalomyelopathy; dystonia; pleoconial mitochondrial myopathy

MeSH Terms

Basal Ganglia/pathology
Case Report
Dystonia/diagnosis/*etiology
Energy Metabolism
Human
Infant
Leigh Disease/*diagnosis/metabolism/pathology
Male
Muscles/pathology
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