Adult neuronal ceroid lipofuscinosis (Kufs' disease). A sporadic case.
A sporadic case of neuronal ceroid lipofuscinosis (Kufs' disease) in a 29-year-old man is reported. At onset the disease resembled schizophrenia (thought disorder, flat affect, paranoia, hallucinations and inappropriate behaviour), but after the appearance of associated neurological symptoms such as myoclonic jerks, cerebellar ataxia, rigidity and involuntary movements a neurological disorder was suspected. Cortical biopsy established the diagnosis.
D000328:Adult; D001706:Biopsy; D002540:Cerebral Cortex / Q000648:ultrastructure; D006801:Humans; D008064:Lipidoses / Q000175:diagnosis*; D008297:Male