Imaging findings of Nasu–Hakola disease: a case report

Abstract 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...

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Published inClinical imaging Vol. 36; no. 6; pp. 877 - 880
Main Authors Kilic, Seyda Andac, Oner, A. Yusuf, Yuce, Cemal, Ozlu, Ilksen Canpolat
Format Journal Article
LanguageEnglish
Published United States Elsevier Inc 01.11.2012
Elsevier Limited
Subjects
Brain - pathology
Diagnosis, Differential
Hereditary disease
Humans
Lipodystrophy - diagnosis
Magnetic Resonance Imaging - methods
Male
Middle Aged
Osteochondrodysplasias - diagnosis
Osteodysplasia
Radiology
Subacute Sclerosing Panencephalitis - diagnosis
Tomography, X-Ray Computed - methods
Osteodysplasia
Hereditary disease
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Summary:Abstract 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.
Bibliography:ObjectType-Case Study-2
SourceType-Scholarly Journals-1
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ObjectType-Report-1
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ISSN:0899-7071
1873-4499
DOI:10.1016/j.clinimag.2012.01.036