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[Kufs disease with leukoencephalopathy]

M Gille1, J M Brucher, P Indekeu

  • 1Service de Neurologie, Clinique Ste-Elisabeth, Bruxelles, Belgique.

Revue Neurologique
|June 1, 1995
PubMed
Summary

This study details a rare leukoencephalopathic variant of Kufs' disease in an adult woman, characterized by specific cellular inclusions. The findings link this rare neurological disorder to pigmentary orthochromatic leukodystrophy.

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Area of Science:

  • Neurology
  • Neuroscience
  • Genetics

Background:

  • Adult Neuronal Ceroid Lipofuscinosis (Kufs' disease) is a rare lysosomal storage disorder.
  • Characterized by progressive neurological decline, but leukoencephalopathy is an uncommon presentation.

Observation:

  • A 52-year-old woman presented with epilepsy, dementia, ataxia, and motor deficits.
  • Cerebral imaging revealed leukoencephalopathy.
  • Biopsies showed diffuse white matter gliosis and characteristic autofluorescent granules within nerve and glial cells.

Findings:

  • Electron microscopy identified osmiophilic lamellar bodies with fingerprint profiles in white matter glial cells (oligodendrocytes, astrocytes).
  • Cortical neurons contained granular osmiophilic bodies.
  • Absence of clear demyelination despite gliosis.

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Implications:

  • This case expands the understanding of Kufs' disease phenotypes.
  • Suggests a potential relationship between this leukoencephalopathic variant and pigmentary orthochromatic leukodystrophy.
  • Highlights the importance of ultrastructural analysis in diagnosing rare neurodegenerative disorders.