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Related Experiment Videos

Nasu-Hakola's disease (membranous lipodystrophy).

N Amano1, K Iwabuchi, H Sakai

  • 1Division of Neuropsychiatry, Kanagawa Rehabilitation Center, Japan.

Acta Neuropathologica
|January 1, 1987
PubMed
Summary
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This autopsy report details Nasu-Hakola's disease, a rare condition causing bone fractures and severe neurological decline. Findings include unique lung changes and widespread brain degeneration, offering insights into this lipodystrophy.

Area of Science:

  • Neuropathology
  • Genetics
  • Rare Diseases

Background:

  • Nasu-Hakola's disease, also known as membranous lipodystrophy, is a rare genetic disorder.
  • Characterized by early-onset bone fractures and progressive neurological deterioration.

Observation:

  • Autopsy of a 43-year-old Japanese male with a history of frequent long bone fractures since age 10.
  • Development of neuropsychiatric symptoms including euphoria, attention deficits, dementia, seizures, and apallial syndrome.
  • Neuropathological examination revealed diffuse leukoencephalopathy, cerebral cortical degeneration (frontal and temporal lobes), and axonal spheroids.

Findings:

  • Peculiar membranocystic changes observed in the lungs.
  • Axonal spheroids in the cerebral cortex contained aggregations of mitochondria, dense bodies, minute concentric bodies, and neurofilaments.

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  • Diffuse degeneration of the cerebral cortex, particularly in the frontal and temporal lobes.

    • Implications:

    • This case highlights key neuropathological features of Nasu-Hakola's disease, aiding in understanding its pathogenesis.
    • Provides detailed ultrastructural insights into axonal spheroids, crucial for diagnosing and potentially treating this rare lipodystrophy.
    • Contributes to the literature on rare genetic disorders affecting both skeletal and neurological systems.