Imaging findings of Nasu-Hakola disease: a case report

Kilic S. A., ÖNER A. Y., Yuce C., Ozlu I. C.

CLINICAL IMAGING, vol.36, no.6, pp.877-880, 2012 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 36 Issue: 6
  • Publication Date: 2012
  • Doi Number: 10.1016/j.clinimag.2012.01.036
  • Journal Name: CLINICAL IMAGING
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.877-880
  • Keywords: Osteodysplasia, Hereditary disease, MEMBRANOUS LIPODYSTROPHY, DEMENTIA, BONE
  • Gazi University Affiliated: Yes


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. (C) 2012 Elsevier Inc. All rights reserved.