A dominant form of adult neuronal ceroidlipofuscinosis (Kufs' disease) with an associated occipital astrocytoma: early diagnosis by cortical biopsy.
A patient with a dominantly inherited form of Kuf's disease and an associated occipital astrocytoma is presented. This is the first reported case in which the diagnosis of Kufs' disease was made by a cortical biopsy several years before its expected clinical onset. The nosology of this disease, and its clinical, genetic, and histopathological characteristics are discussed. The establishment of an early diagnosis by cortical biopsy and its implications are considered.
D000328:Adult; D001254:Astrocytoma / Q000150:complications / Q000175:diagnosis* / Q000473:pathology; D001706:Biopsy; D001932:Brain Neoplasms / Q000150:complications / Q000175:diagnosis* / Q000473:pathology; D002540:Cerebral Cortex / Q000648:ultrastructure; D006801:Humans; D008064:Lipidoses / Q000150:complications / Q000175:diagnosis* / Q000473:pathology; D008297:Male; D008722:Methods; D009778:Occipital Lobe / Q000473:pathology*