MRI AND CT OF KUFS-DISEASE - A FAMILY FOR M

Kufs disease is the adult form of ceroid neurolipofuscinosis, and an u ncommon cause of degenerative nervous system disease affecting young a dults. We present here 4 cases of family form I revealed by a dementia l syndrome. In all 4 patients MRI showed diffuse cortical atrophy pred ominant in the parietal regions. In 3 of these 4 patients MRI also exh ibited a low signal in T2-weighted sequences on the putamens. There wa s no abnormality of the white matter. Diagnosis was made by cerebral b iopsy in one case and by rectal biopsy in all other cases. Although th e MRI images are not specific, they must be used when the diagnosis of Kufs disease is suspected in young patients with demential syndrome.