Adult neuronal ceroid lipofuscinosis (Kufs' disease) in two siblings of anIrish family

The clinico-pathologic features of two siblings with biopsy-proven adult on set neuronal ceroid lipofuscinosis (Kufs' disease) are described. A 38-year -old woman had intractable seizures, delusions and hallucinations followed by ataxia, declining cognitive function and death. At autopsy there was wid espread cerebral neuronal accumulation of autofluorescent pigment, in which fingerprint profiles were demonstrated. Systemic involvement was not demon strated. A 43-year-old brother developed slowly progressive cerebellar atax ia and was found to have similar neuronal autofluorescent pigment on brain biopsy. Nine years later there is gradual cognitive decline and profound at axia. The salient features of Kufs' disease including cases published since 1988 are reviewed.