Journal
MOLECULAR GENETICS AND METABOLISM
Volume 84, Issue 2, Pages 127-136Publisher
ACADEMIC PRESS INC ELSEVIER SCIENCE
DOI: 10.1016/j.ymgme.2004.09.008
Keywords
leukoencephalopathy; white matter; mitochondrial disorders; Leigh disease; Kearns-Sayre syndrome; mitochondrial encephalomyopathy lactic acidosis and stroke like episodes; mitochondrial neuro-gastro-intestinal encephalornyopathy; Leber's hereditary optic neuropathy; respiratory chain
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White matter involvement is recently being realized as a common finding in mitochondrial disorders. It is considered an inherent part of the classical mitochondrial syndromes which are usually associated with alterations in the mitochondrial DNA such as: Leigh disease, Kearns-Sayre syndrome, mitochondrial encephalomyopathy lactic acidosis, and stroke like episodes, mitochondrial neurogastro-intestinal encephalomyopathy and Leber's hereditary optic neuropathy. White matter involvement is also described in mitochondrial disorders due to mutations in the nuclear DNA which are transmitted in an autosomal pattern. MRI findings suggestive of a mitochondrial disease are: small cyst-like lesions in abnormal white matter, involvement of both cerebral and cerebellar white matter, and a combination of a leukoencephalopathy with bilateral basal ganglia lesions. The clinical manifestations may be disproportionate to the extent of white matter involvement. Other organs may frequently be involved. The onset is often in infancy with a neurodegenerative course. The finding of a leukoencephalopathy in a patient with a complex neurologic picture and multisystem involvement should prompt a thorough mitochondrial evaluation. (C) 2004 Elsevier Inc. All rights reserved.
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