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Infantile leukoencephalopathy owing to mitochondrial enzyme dysfunction
Journal article   Peer reviewed

Infantile leukoencephalopathy owing to mitochondrial enzyme dysfunction

Peter B Kang, Jill V Hunter, Joseph J Melvin, Mary A Selak, Eric N Faerber and Edward M Kaye
Journal of child neurology, v 17(6), pp 421-428
01 Jun 2002
DOI: https://doi.org/10.1177/088307380201700605
PMID: 12174962
Featured in Collection :   UN Sustainable Development Goals @ Drexel

Abstract

Corpus Callosum - pathology Electron Transport Complex I Electron Transport Complex II Electron Transport Complex III - metabolism Electron Transport Complex IV - metabolism Female Humans Infant Infant, Newborn Internal Capsule - pathology Leukoencephalopathy, Progressive Multifocal - diagnosis Leukoencephalopathy, Progressive Multifocal - enzymology Leukoencephalopathy, Progressive Multifocal - physiopathology Magnetic Resonance Imaging Male Mitochondria - enzymology Mitochondria - pathology Multienzyme Complexes - metabolism NADH, NADPH Oxidoreductases - metabolism Neurodegenerative Diseases - enzymology Oxidoreductases - metabolism Succinate Dehydrogenase - metabolism
Mitochondrial disease is classically associated with deep gray-matter lesions. When white matter is involved, the lesions are typically subcortical and overshadowed by more significant disease in the gray matter. We report six infants in five families who developed neurodegenerative diseases characterized primarily by abnormalities in deep white-matter structures such as the periventricular region, internal capsule, and corpus callosum. Five patients had impairments of mitochondrial enzymes, including a pre-electron transport chain defect and defects in respiratory chain complexes I, III, and IV (cytochrome-c oxidase). One patient, the sibling of one of the others, was diagnosed clinically with complex III deficiency. These six patients, along with others in the literature, appear to represent a distinct syndrome of mitochondrial infantile leukoencephalopathy. Our observations suggest that infants with leukoencephalopathies, especially leukodystrophies, who do not have one of the more common causes of white-matter disease should be evaluated for mitochondrial dysfunction.

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12 citations in Web of Science
19 citations in Scopus

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Collaboration types
Domestic collaboration
Web of Science research areas
Clinical Neurology
Pediatrics
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