Skip to main content
Journal of Medical Genetics logoLink to Journal of Medical Genetics
. 1997 Sep;34(9):753–757. doi: 10.1136/jmg.34.9.753

Nasu-Hakola syndrome: polycystic lipomembranous osteodysplasia with sclerosing leucoencephalopathy and presenile dementia.

A Verloes 1, P Maquet 1, B Sadzot 1, M Vivario 1, A Thiry 1, G Franck 1
PMCID: PMC1051061  PMID: 9321763

Full text

PDF
753

Images in this article

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Adolfsson R., Forsell A., Johansson G. Hereditary polycystic osteodysplasia with progressive dementia in Sweden. Lancet. 1978 Jun 3;1(8075):1209–1210. doi: 10.1016/s0140-6736(78)91000-0. [DOI] [PubMed] [Google Scholar]
  2. Akai M., Tateishi A., Cheng C. H., Morii K., Abe M., Ohno T., Ben M. Membranous lipodystrophy: a clinicopathological study of six cases. J Bone Joint Surg Am. 1977 Sep;59(6):802–809. [PubMed] [Google Scholar]
  3. Alegre V. A., Winkelmann R. K., Aliaga A. Lipomembranous changes in chronic panniculitis. J Am Acad Dermatol. 1988 Jul;19(1 Pt 1):39–46. doi: 10.1016/s0190-9622(88)70149-8. [DOI] [PubMed] [Google Scholar]
  4. Amano N., Iwabuchi K., Sakai H., Yagishita S., Itoh Y., Iseki E., Yokoi S., Arai N., Kinoshita J. Nasu-Hakola's disease (membranous lipodystrophy). Acta Neuropathol. 1987;74(3):294–299. doi: 10.1007/BF00688195. [DOI] [PubMed] [Google Scholar]
  5. Araki T., Ohba H., Monzawa S., Sakuyama K., Hachiya J., Seki T., Takahashi Y., Yamaguchi M. Membranous lipodystrophy: MR imaging appearance of the brain. Radiology. 1991 Sep;180(3):793–797. doi: 10.1148/radiology.180.3.1871295. [DOI] [PubMed] [Google Scholar]
  6. Bird T. D., Koerker R. M., Leaird B. J., Vlcek B. W., Thorning D. R. Lipomembranous polycystic osteodysplasia (brain, bone, and fat disease): a genetic cause of presenile dementia. Neurology. 1983 Jan;33(1):81–86. doi: 10.1212/wnl.33.1.81. [DOI] [PubMed] [Google Scholar]
  7. Chun S. I., Ahn S. K., Kim S. C. Membranous lipodystrophy: primary idiopathic type. J Am Acad Dermatol. 1991 May;24(5 Pt 2):844–847. doi: 10.1016/0190-9622(91)70129-p. [DOI] [PubMed] [Google Scholar]
  8. Chun S. I., Chung K. Y. Membranous lipodystrophy: secondary type. J Am Acad Dermatol. 1994 Oct;31(4):601–605. doi: 10.1016/s0190-9622(94)70223-3. [DOI] [PubMed] [Google Scholar]
  9. Deisenhammer F., Willeit J., Schmidauer C., Kiechl S., Pohl P. Membranöse Lipodystrophie (Morbus Nasu-Hakola). Nervenarzt. 1993 Apr;64(4):263–265. [PubMed] [Google Scholar]
  10. Edvardsen P., Halvorsen T. B., Nesse O. Lipomembranous osteodysplasia: a case report. Int Orthop. 1983;7(2):99–103. doi: 10.1007/BF00266458. [DOI] [PubMed] [Google Scholar]
  11. Elleder M., Michalec C., Jirásek A., Khun K., Havlová M., Ranný M. Membranocystic lesion in the brain in cerebrotendinous xanthomatosis. Histochemical and ultrastructural study with evidence of its ceroid nature. Virchows Arch B Cell Pathol Incl Mol Pathol. 1989;57(6):367–374. doi: 10.1007/BF02899103. [DOI] [PubMed] [Google Scholar]
  12. Hakola H. P., Iivanainen M. A new hereditary disease with progressive dementia and polycystic osteodysplasia: neuroradiological analysis of seven cases. Neuroradiology. 1973 Nov 28;6(3):162–168. doi: 10.1007/BF00340444. [DOI] [PubMed] [Google Scholar]
  13. Hakola H. P., Karjalainen P. Bone mineral content in hereditary polycystic osteodysplasia associated with progressive dementia. Acta Radiol Diagn (Stockh) 1975 Jul;16(4):385–392. doi: 10.1177/028418517501600410. [DOI] [PubMed] [Google Scholar]
  14. Hakola H. P., Partanen V. S. Neurophysiological findings in the hereditary presenile dementia characterised by polycystic lipomembranous osteodysplasia and sclerosing leukoencephalopathy. J Neurol Neurosurg Psychiatry. 1983 Jun;46(6):515–520. doi: 10.1136/jnnp.46.6.515. [DOI] [PMC free article] [PubMed] [Google Scholar]
  15. Hakola H. P. Psychosocial reactions in the spouses of patients suffering polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy. J Clin Psychiatry. 1990 Jan;51(1):21–24. [PubMed] [Google Scholar]
  16. Hakola H. P., Puranen M. Neuropsychiatric and brain CT findings in polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy. Acta Neurol Scand. 1993 Nov;88(5):370–375. doi: 10.1111/j.1600-0404.1993.tb05360.x. [DOI] [PubMed] [Google Scholar]
  17. Hakola H. P., Teräsvirta M. E., Jägerroos P. H. Ocular findings in polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy. Acta Ophthalmol (Copenh) 1989 Feb;67(1):97–100. doi: 10.1111/j.1755-3768.1989.tb00731.x. [DOI] [PubMed] [Google Scholar]
  18. Hanawa S., Matsushita M., Takahashi K. [A case of Nasu-Hakola's disease (author's transl)]. Seishin Shinkeigaku Zasshi. 1981 Jan;83(1):29–45. [PubMed] [Google Scholar]
  19. Harada K. Ein Fall von "Membranöser Lipodystrophie (Nasu)", unter besonderer Berücksichtigung des psychiatrischen und neuropathologischen Befundes. Folia Psychiatr Neurol Jpn. 1975;29(2):169–177. [PubMed] [Google Scholar]
  20. Hishikawa R., Fukase M., Yoshimoto Y., Imai Y., Okada S., Fujita T. A case of membranous lipodystrophy complicated by Fanconi's syndrome. Bone Miner. 1988 Oct;5(1):99–105. doi: 10.1016/0169-6009(88)90010-4. [DOI] [PubMed] [Google Scholar]
  21. Honma T., Bang D., Saito T., Nakagawa S., Ueki H., Lee S. Appearance of membranocystic lesion (Nasu)-like changes in Behçet's syndrome. An electron microscopic study of erythema nodosum-like lesions. Acta Pathol Jpn. 1988 Aug;38(8):1001–1010. doi: 10.1111/j.1440-1827.1988.tb02372.x. [DOI] [PubMed] [Google Scholar]
  22. Iannaccone S., Ferini-Strambi L., Nemni R., Marchettini P., Corbo M., Pinto P., Smirne S. Peripheral motor-sensory neuropathy in membranous lipodystrophy (Nasu's disease): a case report. Clin Neuropathol. 1992 Jan-Feb;11(1):49–53. [PubMed] [Google Scholar]
  23. Iivanainen M., Hakola P., Erkinjuntti T., Sipponen J. T., Ketonen L., Sulkava R., Sepponen R. E. Cerebral MR and CT imaging in polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy. J Comput Assist Tomogr. 1984 Oct;8(5):940–943. doi: 10.1097/00004728-198410000-00025. [DOI] [PubMed] [Google Scholar]
  24. Ishigooka M., Hashimoto T., Izumiya K., Kodama C., Nakada T. Membranous lipodystrophy (Nasu's disease): a rare cause of neuropathic urinary incontinence. Urol Int. 1993;50(3):179–181. doi: 10.1159/000282479. [DOI] [PubMed] [Google Scholar]
  25. Kitajima I., Kuriyama M., Usuki F., Izumo S., Osame M., Suganuma T., Murata F., Nagamatsu K. Nasu-Hakola disease (membranous lipodystrophy). Clinical, histopathological and biochemical studies of three cases. J Neurol Sci. 1989 Jun;91(1-2):35–52. doi: 10.1016/0022-510x(89)90074-9. [DOI] [PubMed] [Google Scholar]
  26. Kitajima I., Kuriyama M., Usuki F., Izumo S., Osame M., Suganuma T., Murata F., Nagamatsu K. Nasu-Hakola disease (membranous lipodystrophy). Clinical, histopathological and biochemical studies of three cases. J Neurol Sci. 1989 Jun;91(1-2):35–52. doi: 10.1016/0022-510x(89)90074-9. [DOI] [PubMed] [Google Scholar]
  27. Kitajima I., Suganuma T., Murata F., Nagamatsu K. Ultrastructural demonstration of Maclura pomifera agglutinin binding sites in the membranocystic lesions of membranous lipodystrophy (Nasu-Hakola disease). Virchows Arch A Pathol Anat Histopathol. 1988;413(6):475–483. doi: 10.1007/BF00750387. [DOI] [PubMed] [Google Scholar]
  28. Koizumi T., Matsubara R., Kurachi M., Isaki K., Yamaguchi N., Nakanuma Y. Sclerosing leucoencephalopathy with membranocystic lesions of adipose tissue: a contribution to the pathology of Nasu disease. Folia Psychiatr Neurol Jpn. 1982;36(4):409–416. doi: 10.1111/j.1440-1819.1982.tb03113.x. [DOI] [PubMed] [Google Scholar]
  29. Kondo A. Case for the panel. Unusual intracytoplasmic electron-dense material in Nasu-Hakola disease. Ultrastruct Pathol. 1991 Jan-Feb;15(1):99–104. doi: 10.3109/01913129109021309. [DOI] [PubMed] [Google Scholar]
  30. Koçer N., Dervisoglu S., Ersavasti G., Altug A., Cokyüksel O. Case report 867. Membranous lipodystrophy (polycystic lipomembranous osteodysplasia). Skeletal Radiol. 1994 Oct;23(7):577–579. doi: 10.1007/BF00223097. [DOI] [PubMed] [Google Scholar]
  31. Machinami R. Degenerative change of adipose tissue; the so-called membranous lipodystrophy. Virchows Arch A Pathol Anat Histopathol. 1990;416(5):373–374. doi: 10.1007/BF01605140. [DOI] [PubMed] [Google Scholar]
  32. Machinami R. Incidence of membranous lipodystrophy-like change among patients with limb necrosis caused by chronic arterial obstruction. Arch Pathol Lab Med. 1984 Oct;108(10):823–826. [PubMed] [Google Scholar]
  33. Matsuo T., Suetsugu M., Eguchi M., Sasaki M., Tsuneyoshi M. Membranous lipodystrophy. A case report. Arch Psychiatr Nervenkr (1970) 1982;231(2):123–130. doi: 10.1007/BF00343833. [DOI] [PubMed] [Google Scholar]
  34. Matsushita M., Oyanagi S., Hanawa S., Shiraki H., Kosaka K. Nasu-Hakola's disease (membranous lipodystrophy). A case report. Acta Neuropathol. 1981;54(2):89–93. doi: 10.1007/BF00689400. [DOI] [PubMed] [Google Scholar]
  35. Mii Y., Miyauchi Y., Yoshikawa T., Honoki K., Aoki M., Tsutsumi M., Maruyama H., Funauchi M., Konishi Y., Tamai S. Ultrastructural lipid and glycoconjugate cytochemistry of membranous lipodystrophy (Nasu-Hakola disease). Virchows Arch A Pathol Anat Histopathol. 1991;419(2):137–142. doi: 10.1007/BF01600227. [DOI] [PubMed] [Google Scholar]
  36. Minagawa M., Maeshiro H., Shioda K., Hirano A. Membranous lipodystrophy (Nasu disease): clinical and neuropathological study of a case. Clin Neuropathol. 1985 Jan-Feb;4(1):38–45. [PubMed] [Google Scholar]
  37. Miyazu K., Kobayashi K., Fukutani Y., Nakamura I., Hasegawa H., Yamaguchi N., Saitoh T. Membranous lipodystrophy (Nasu-Hakola disease) with thalamic degeneration: report of an autopsied case. Acta Neuropathol. 1991;82(5):414–419. doi: 10.1007/BF00296554. [DOI] [PubMed] [Google Scholar]
  38. Motohashi N., Shinohara M., Shioe K., Fukuzawa H., Akiyama Y., Kariya T. A case of membranous lipodystrophy (Nasu-Hakola disease) with unique MRI findings. Neuroradiology. 1995 Oct;37(7):549–550. doi: 10.1007/BF00593716. [DOI] [PubMed] [Google Scholar]
  39. Nasu T., Tsukahara Y., Terayama K. A lipid metabolic disease-"membranous lipodystrophy"-an autopsy case demonstrating numerous peculiar membrane-structures composed of compound lipid in bone and bone marrow and various adipose tissues. Acta Pathol Jpn. 1973 Aug;23(3):539–558. doi: 10.1111/j.1440-1827.1973.tb01223.x. [DOI] [PubMed] [Google Scholar]
  40. Oishi M., Mori N., Takasu T., Osaka S., Yamamoto M., Uchiyama T., Sawada S. Nasu-Hakola disease. A case accompanied by abnormalities in fatty acid composition of serum total lipids and amino acid analysis. Acta Neurol (Napoli) 1993 Feb;15(1):53–61. [PubMed] [Google Scholar]
  41. Pazzaglia U. E., Benazzo F., Castelli C., Boiocchi M., Beluffi G. Case report 381: Membranous lipodystrophy (MLD). Skeletal Radiol. 1986;15(6):474–477. doi: 10.1007/BF00355109. [DOI] [PubMed] [Google Scholar]
  42. Preziuso L., Muncibì F., Aglietti F. G. A case of membranous lipodystrophy with skeletal involvement. Chir Organi Mov. 1992 Apr-Jun;77(2):205–211. [PubMed] [Google Scholar]
  43. Sageshima M., Masuda H., Kawamura K., Shozawa T. Membranous lipodystrophy. Light and electron microscopic study of a biopsy case. Acta Pathol Jpn. 1987 Feb;37(2):281–290. [PubMed] [Google Scholar]
  44. Snow J. L., Su W. P., Gibson L. E. Lipomembranous (membranocystic) changes associated with morphea: a clinicopathologic review of three cases. J Am Acad Dermatol. 1994 Aug;31(2 Pt 1):246–250. doi: 10.1016/s0190-9622(94)70156-3. [DOI] [PubMed] [Google Scholar]
  45. Stübgen J. P., Lotz B. P. Membranous lipodystrophy. Clinical and electrophysiological observations in the first South African case. S Afr Med J. 1992 Jun 20;81(12):620–622. [PubMed] [Google Scholar]
  46. Sueki H., Shinmura Y., Fujisawa R., Jitsukawa K., Sato S. Ultrastructural study of the histogenesis of membranocystic lesions (Nasu) in diabetics. J Cutan Pathol. 1986 Oct;13(5):390–401. doi: 10.1111/j.1600-0560.1986.tb00475.x. [DOI] [PubMed] [Google Scholar]
  47. Sulkava R., Nordberg U. R., Erkinjuntti T., Westermarck T. Erythrocyte glutathione peroxidase and superoxide dismutase in Alzheimer's disease and other dementias. Acta Neurol Scand. 1986 May;73(5):487–489. doi: 10.1111/j.1600-0404.1986.tb04590.x. [DOI] [PubMed] [Google Scholar]
  48. Tanaka J. Leukoencephalopathic alteration in membranous lipodystrophy. Acta Neuropathol. 1980;50(3):193–197. doi: 10.1007/BF00688753. [DOI] [PubMed] [Google Scholar]
  49. Tokunaga M., Wakamatsu E., Sato M., Namiki O., Yokosawa A., Motomiya M. Lipid composition of adipose tissue from "membranous lipodystrophy". Tohoku J Exp Med. 1981 Apr;133(4):451–456. doi: 10.1620/tjem.133.451. [DOI] [PubMed] [Google Scholar]
  50. Toshima M., Kitazawa M., Ishikawa H., Kaneko H., Kusano T. An ultrastructural study of the morphogenesis of membranocystic lesions in bone marrow. Acta Pathol Jpn. 1983 Sep;33(5):1051–1059. doi: 10.1111/j.1440-1827.1983.tb02150.x. [DOI] [PubMed] [Google Scholar]
  51. Wood C. Membranous lipodystrophy of bone. Arch Pathol Lab Med. 1978 Jan;102(1):22–27. [PubMed] [Google Scholar]
  52. Yagishita S., Ito Y., Ikezaki R. Lipomembranous polycystic osteodysplasia. Virchows Arch A Pathol Anat Histol. 1976 Dec 27;372(3):245–251. doi: 10.1007/BF00433283. [DOI] [PubMed] [Google Scholar]
  53. Yagishita S., Ito Y., Sakai H., Amano N. Membranocystic lesions of the lung in Nasu-Hakola disease. Virchows Arch A Pathol Anat Histopathol. 1985;408(2-3):211–217. doi: 10.1007/BF00707983. [DOI] [PubMed] [Google Scholar]
  54. Yokoi S., Suzuki K., Amano N., Yagishita S. Fatty acid analysis of galactolipids and ganglioside in the brains of four cases of Nasu-Hakola disease. Jpn J Psychiatry Neurol. 1989 Dec;43(4):695–701. doi: 10.1111/j.1440-1819.1989.tb03104.x. [DOI] [PubMed] [Google Scholar]

Articles from Journal of Medical Genetics are provided here courtesy of BMJ Publishing Group

RESOURCES