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


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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  1. 1.
    Hakola HPA (1972) Neuropsychiatric and genetic aspects of a new disease hereditary disease characterized by progressive dementia and lipomembranous polycystic osteodysplasia. Acta Psychiatr Scand [Suppl] 232:1–173Google Scholar
  2. 2.
    Hakola HPA, Järvi OH, Sourander P (1970) Osteodystrophia polycystica hereditaria combined with sclerosing leukodystrophy. A new entity of dementia presenile group. Acta Neurol Scand [Suppl] 43:78–79Google Scholar
  3. 3.
    Hanawa S, Matsushita M, Takahashi K (1981) A case of Nasu-Hakola's disease. Psychiatr Neurol Jpn 83:29–45Google Scholar
  4. 4.
    Harada K (1975) Ein Fall von “Membranöser Lipodystrophie” (Nasu) unter besonderer Berücksichtigung des psychiatrischen und neuropathologischen Befundes. Folia Psychiatr Neurol Jpn 29:169–177Google Scholar
  5. 5.
    Harada K (1981) Neuropathology of membranous lipodystrophy — Nasu. International symposium on the leucodystrophy and allied diseases. Neuropathology [Suppl] 1:79–86Google Scholar
  6. 6.
    Harada K (1983) The neuropathology of membranous lipodystrophy — Nasu. Adv Neurol Sci 27:248–257Google Scholar
  7. 7.
    Koizumi T, Matsubara R, Kurachi M, Isaki K, Yamaguchi N, Nakamura Y (1982) Sclerosing leucoencephalopathy with membranocystic lesions of adipose tissue: a contribution to the pathology of Nasu disease. Folia Psychiatr Neurol Jpn 36:409–416Google Scholar
  8. 8.
    Matsushita M, Oyanagi S, Hanawa S, Shiraki H, Kosaka K (1981) Nasu-Hakola's disease (membranous lipodystrophy). A case report. Acta Neuropathol (Berl) 54:89–93Google Scholar
  9. 9.
    Minagawa M, Maeshiro H, Kato K, Shioda K (1980) A rare form of leucodystrophy — neuroaxonal leukodystrophy (Seitelberger). Psychiatr Neurol Jpn 82:488–503Google Scholar
  10. 10.
    Minagawa M, Maeshiro H, Shioda K, Hirano A (1984) Membranous lipodystrophy (Nasu disease): clinical and neuropathological study of a case. Clin Neuropathol 4:38–45Google Scholar
  11. 11.
    Mizushima S, Nakazawa T (1971) Clinical, pathological and neurochemical studies on a case of sudanophilic leukodystrophy. Psychiatr Neurol Jpn 73:840–853Google Scholar
  12. 12.
    Morita K, Tamura Y, Morikiyo M, Eguchi K, Uematsu M, Amano H, Kaiya H, Nanba M (1986) A case report of the two sibling-cases of Nasu-Hakola disease — with special reference to its psychiatric symptoms. Jpn J Clin Psychiatr 15:1811–1819Google Scholar
  13. 13.
    Nasu T (1981) General pathology of membranous lipodystrophy. International symposium on the leucodystrophy and allied diseases. Neuropathology [Suppl] 1:61–78Google Scholar
  14. 14.
    Nasu T, Tsukahara Y, Terayama K, Mamiya N (1970) An autopsy case of “membranous lipodystrophy” with myeloosteopathy of long bones and leucodystrophy of the brain. The 59th Tokyo Meeting of Pathology, Tokyo. Tokyo Byori Shudankai Kiji:10–13Google Scholar
  15. 15.
    Seitelberger F (1971) Neuropathological conditions related to neuroaxonal dystrophy. Acta Neuropathol (Berl) [Suppl] 5:17–29Google Scholar
  16. 16.
    Sourander P, Jarvi O, Hakola P, Kalimo H, Nevalainen T (1981) Neuropathological aspects of polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (membranous lipodystrophy). International symposium on the leucodystrophy and allied diseases. Neuropathology [Suppl] 1:87–101Google Scholar
  17. 17.
    Takeshima M, Hitomi H, Kimura M, Doi K, Hamaya K (1984) An autopsy case of membranous lipodystrophy (Nasu). Brain Nerve 36:975–982Google Scholar
  18. 18.
    Tanaka J (1980) Leukoencephalopathic alteration in membranous lipodystrophy. Acta Neuropathol (Berl) 50:193–197Google Scholar
  19. 19.
    Yagishita S, Itoh Y, Ikezaki R (1976) Lipomembranous polycystic osteodysplasia. Virchows Arch [A] 372:245–251Google Scholar
  20. 20.
    Yagishita S, Itoh Y, Sakai H, Amano N (1985) Membranous lesions of the lung in Nasu-Hakola disease. Virchows Arch [A] 408:211–217Google Scholar
  21. 21.
    Yakumaru K, Matsuyama H, Kageyama K, Nasu T (1973) An autopsy case of membranous lipodystrophy. The 19th Autumn Meeting of the Japanese Pathologic Society, Tokyo [Abstr]Google Scholar

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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