Nasu-Hakola disease as suspected cause for bone disease and dementia

J Clin Rheumatol. 2014 Apr;20(3):160-2. doi: 10.1097/RHU.0000000000000097.

Abstract

Progressive dementia in conjunction with multiple bone fractures in a previously healthy young man led to the investigation of the underlying cause. The differential diagnoses (most importantly hypoparathyroidism) were limited given basal ganglia calcifications on the brain computed tomographic scan. Electronic search of the key words basal ganglia calcification, osteoporosis, and dementia revealed a rare condition termed Nasu-Hakola disease or polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy. This very rare and potentially fatal genetic disease is characterized by pathological fractures, multiple lytic bone lesions, and presenile dementia. We report an Iranian patient with this disease and a review of the literature.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Absorptiometry, Photon
  • Adult
  • Bone Density / physiology
  • Bone Diseases / diagnosis
  • Bone Diseases / diagnostic imaging
  • Bone Diseases / etiology*
  • Brain / diagnostic imaging
  • Dementia / diagnosis
  • Dementia / etiology*
  • Humans
  • Iran
  • Lipodystrophy / complications*
  • Lipodystrophy / diagnosis*
  • Male
  • Osteochondrodysplasias / complications*
  • Osteochondrodysplasias / diagnosis*
  • Subacute Sclerosing Panencephalitis / complications*
  • Subacute Sclerosing Panencephalitis / diagnosis*
  • Tomography, X-Ray Computed

Supplementary concepts

  • Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy