Acta Neuropathologica

, Volume 74, Issue 3, pp 294–299 | Cite as

Nasu-Hakola's disease (membranous lipodystrophy)

  • N. Amano
  • K. Iwabuchi
  • H. Sakai
  • S. Yagishita
  • Y. Itoh
  • E. Iseki
  • S. Yokoi
  • N. Arai
  • J. Kinoshita
Case Reports

Summary

An autopsy case of Nasu-Hakola's disease (membranous lipodystrophy) is reported. A 43-year-old Japanese man, whose parents were not consanguineous, had been suffering from frequent long bone fractures since the age of 10. Neuropsychiatric symptoms, which were characterized by euphoria, disturbance of attention and dementia, appeared at his thirties and generalized and/or localized seizures and apallial syndrome at the later stage. The neuropathology revealed diffuse leukoencephalopathy of the cerebrum. The peculiar aspects in this case were membranocystic changes in the lungs [Yagishita et al. Virchows Arch [A] 408:211–217 (1985)], diffuse degeneration of the cerebral cortex, chiefly in frontal and temporal lobes, and many axonal spheroids throughout the cerebral cortex. The ultrastructure of spheroids in the cerebral cortex demonstrated aggregations of mitochondria, dense bodies and minute concentric bodies and a small amount of neurofilaments.

Key words

Nasu-Hakola's disease Membranous lipodystrophy Axonal spheroids Membranocystic change Glio-myelin dissociation 

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Copyright information

© Springer-Verlag 1987

Authors and Affiliations

  • N. Amano
    • 1
  • K. Iwabuchi
    • 1
  • H. Sakai
    • 1
  • S. Yagishita
    • 2
  • Y. Itoh
    • 2
  • E. Iseki
    • 3
  • S. Yokoi
    • 3
  • N. Arai
    • 4
  • J. Kinoshita
    • 5
  1. 1.Division of NeuropsychiatryThe Kanagawa Rehabilitation CenterAtsugi, KanagawaJapan
  2. 2.Division of PathologyThe Kanagawa Rehabilitation CenterAtsugi, KanagawaJapan
  3. 3.Department of NeuropsychiatryYokohama City University School of MedicineYokohamaJapan
  4. 4.Department of PathologyYokohama City University School of MedicineYokohamaJapan
  5. 5.Takanedai HospitalHiratsuka, KanagawaJapan

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