MEMBRANOUS LIPODYSTROPHY (NASU-HAKOLA DISEASE)

We present a case-report and review of the literature on membranous li podystrophy. This is a rare disease characterized by progressive prese nile dementia, multiple bone cysts with pathologic fractures, generali zed cerebral seizures with abnormal EEG and bilateral calcifications o f the basal ganglia. Neuropathological findings are neuroaxonal dystro phy with neurofilaments in the axons, neuronal cell loss and fibrillar y gliosis. The disease is usually inherited as an autosomal recessive. The pathogenesis is unknown but is believed to be an enzyme defect of the glycolipid metabolism.