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.