Imaging findings of Nasu-Hakola disease: a case report

Clin Imaging. 2012 Nov-Dec;36(6):877-80. doi: 10.1016/j.clinimag.2012.01.036. Epub 2012 Jun 8.


Nasu-Hakola disease (NHD), also known as polycystic lipomembranous osteodysplasia and sclerosing leukoencephalopathy, is a rare and fatal hereditary disease with less than 200 cases reported in the literature [Madry H, Prudlo J, Grgic A, Freyschmidt J. Nasu-Hakola disease (PLOSL): report of five cases and review of the literature. Clin Orthop Relat Res 2007;454:262-269]. This progressive disease is characterized by multiple cystic bone lesions, complicated with pathologic fractures and progressive dementia. Here in this article we report the imaging findings including magnetic resonance imaging of a newly diagnosed NHD case, with emphasis on the awareness of the radiologist for prompt recognition of this rare entity.

Publication types

  • Case Reports

MeSH terms

  • Brain / pathology*
  • Diagnosis, Differential
  • Humans
  • Lipodystrophy / diagnosis*
  • Magnetic Resonance Imaging / methods*
  • Male
  • Middle Aged
  • Osteochondrodysplasias / diagnosis*
  • Subacute Sclerosing Panencephalitis / diagnosis*
  • Tomography, X-Ray Computed / methods*

Supplementary concepts

  • Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy