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Infantile leukoencephalopathy owing to mitochondrial enzyme dysfunction

Peter B Kang1, Jill V Hunter, Joseph J Melvin

  • 1Division of Neurology, Children's Hospital of Philadelphia, PA, USA. peter.kang@tch.harvard.edu

Journal of Child Neurology
|August 15, 2002
PubMed

Insights

Mitochondrial infantile leukoencephalopathy presents with deep white matter abnormalities, distinct from typical mitochondrial disease patterns. Early evaluation for mitochondrial dysfunction is crucial in infants with unexplained leukoencephalopathies.

Area of Science:

  • Biochemistry
  • Neurology
  • Genetics

Background:

  • Mitochondrial diseases classically affect gray matter, with white matter involvement typically being subcortical.
  • Leukoencephalopathies are a group of white matter disorders affecting the brain's white matter.

Observation:

  • Six infants from five families presented with neurodegenerative diseases primarily affecting deep white matter structures.
  • Affected areas included the periventricular region, internal capsule, and corpus callosum.

Findings:

  • Five patients exhibited mitochondrial enzyme impairments, including pre-electron transport chain and respiratory chain complex defects (I, III, IV).
  • One patient was clinically diagnosed with complex III deficiency.
  • These cases, alongside literature reviews, suggest a distinct syndrome: mitochondrial infantile leukoencephalopathy.

Implications:

  • Infants with unexplained leukoencephalopathies, particularly leukodystrophies, should be screened for mitochondrial dysfunction.
  • This research highlights a specific white matter disease pattern in mitochondrial disorders.
  • Early diagnosis of mitochondrial infantile leukoencephalopathy can guide appropriate clinical management.

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