KUFS-DISEASE PRESENTING AS A LEUKOENCEPHA LOPATHY

We report a case of adult neuronal ceroid lipofuscinosis (Kufs' diseas e) with leukoencephalopathy on cerebral scan CT and MRI. A 52 year-old woman presented with partial complex epileptic seizure followed by pr ogressive dementia, cerebellar ataxia, pyramidal and akineto-rigid sig ns and symptoms. After 6 years of evolution, cerebral stereotactic bio psies showed a diffuse gliosis of the white matter but no clear demyel ination. Nerve and glial cells contained numerous PAS+ autofluorescent granules. In the oligodendrocytes and astrocytes of the white matter these granules appeared electronmicroscopically as cytoplasmic osmioph ilic lamellar bodies with fingerprint profile combined with some curvi linear and rectilinear aspects. The cortical nerve cells contained gra nular osmiophilic bodies. This ''leukoencephalopathic'' a variant of K ufs' disease is probably related to the pigmentary type of orthochroma tic leukodystrophy, wherein similar inclusions have been only describe d in the macrophages and glial cells of the white matter.