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Alzheimer's tangles in sudanophilic leukodystrophy
K Harada1, W Krucke, J L Mancardi
1Max Planck Institute for Brain Research, Frankfurt am Main, West Germany.
Neurology
|January 1, 1988
Summary
This study details a rare infantile leukodystrophy case with severe neurological decline. Unexpectedly, Alzheimer's-like tangles were found throughout the brain, alongside demyelination.
Area of Science:
- Neuropathology
- Pediatric Neurology
- Neurodegenerative Diseases
Background:
- Infantile leukodystrophies are a group of rare genetic disorders affecting white matter development.
- This case presents a unique variant with atypical clinical and pathological features.
Observation:
- A male infant exhibited normal development until 15 months, followed by rapid neurological deterioration including myoclonus, intellectual regression, and severe epilepsy.
- Autopsy revealed widespread demyelination and gliosis in the white matter, cerebellar atrophy, and hyperostosis of the skull.
Findings:
- Electron microscopy identified numerous Alzheimer's tangles with paired helical filaments in multiple brain regions, including the cerebral cortex, brainstem, basal ganglia, and hypothalamus.
- Macrophages containing PAS-positive granules were observed in the reticuloendothelial system across various organs.
Implications:
- This case expands the understanding of infantile leukodystrophy phenotypes and their potential overlap with adult neurodegenerative pathologies.
- The presence of Alzheimer's-like pathology in infantile leukodystrophy suggests novel pathomechanisms and warrants further investigation into genetic and molecular underpinnings.