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  • Title: [Membranous lipodystrophy (Nasu-Hakola disease)].
    Author: Deisenhammer F, Willeit J, Schmidauer C, Kiechl S, Pohl P.
    Journal: Nervenarzt; 1993 Apr; 64(4):263-5. PubMed ID: 8506015.
    Abstract:
    We present a case-report and review of the literature on membranous lipodystrophy. This is a rare disease characterized by progressive presenile dementia, multiple bone cysts with pathologic fractures, generalized cerebral seizures with abnormal EEG and bilateral calcifications of the basal ganglia. Neuropathological findings are neuroaxonal dystrophy with neurofilaments in the axons, neuronal cell loss and fibrillary 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.
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