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

The clinico-pathologic features of two siblings with biopsy-proven adult onset 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 widespread cerebral neuronal accumulation of autofluorescent pigment, in which fingerprint profiles were demonstrated. Systemic involvement was not demonstrated. A 43-year-old brother developed slowly progressive cerebellar ataxia and was found to have similar neuronal autofluorescent pigment on brain biopsy. Nine years later there is gradual cognitive decline and profound ataxia. The salient features of Kufs' disease including cases published since 1988 are reviewed.