[MRI and computer-assisted tomography in Kufs disease. Apropos of a familial form]

J Neuroradiol. 1996 Jun;23(1):33-7.
[Article in French]

Abstract

Kufs disease is the adult form of ceroid neurolipofuscinosis, and an uncommon cause of degenerative nervous system disease affecting young adults. We present here 4 cases of family form revealed by a demential syndrome. In all 4 patients MRI showed diffuse cortical atrophy predominant in the parietal regions. In 3 of these 4 patients MRI also exhibited a low signal in T2-weighted sequences on the putamens. There was no abnormality of the white matter. Diagnosis was made by cerebral biopsy in one case and by rectal biopsy in all other cases. Although the MRI images are not specific, they must be used when the diagnosis of Kufs disease is suspected in young patients with demential syndrome.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Atrophy
  • Biopsy
  • Cerebellum / diagnostic imaging
  • Cerebellum / pathology
  • Dementia / diagnosis
  • Dementia / diagnostic imaging
  • Dementia / genetics
  • Female
  • Humans
  • Magnetic Resonance Imaging*
  • Male
  • Middle Aged
  • Neuronal Ceroid-Lipofuscinoses / diagnosis
  • Neuronal Ceroid-Lipofuscinoses / diagnostic imaging
  • Neuronal Ceroid-Lipofuscinoses / genetics*
  • Parietal Lobe / diagnostic imaging
  • Parietal Lobe / pathology
  • Tomography, X-Ray Computed*