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- W2026054603 abstract "In an attempt to elucidate the pathogenesis of demyelination in a patient with SNE, metabolic, histochemical, and neurochemical studies were performed. The diagnosis was based on clinical, biochemical, and neuropathological findings. The patient was the third affected child of a consanguine couple and succumbed to a progressive neurological disease in late infancy. A chronic lactic acidosis was attributed to an impaired pyruvate metabolism and a defect in gluconeogenesis was excluded by metabolic studies. A partially deficient pyruvate dehydrogenase activity was detected in fibroblasts. The autopsy showed, besides the lesions of SNE, micronodular cirrhosis of the liver. Histochemical reactions showed recent myelin breakdown and mucopolysaccharide-containing deposits. Myelin was isolated and analysed and, during the isolation procedure, a fraction of myelin breakdown products was obtained. The myelin content of the white matter was low, but the lipid composition of the purified myelin was essentially normal. Minor abnormalities reflected a relative chemical immaturity and were similar to that in other diseases with unspecific demyelination. It is concluded that the myelin instability in this case of SNE was not caused by a defective composition of the membrane and that extrinsic factors (probably intermittent brain edema) initiated the breakdown of this vulnerable structure." @default.
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- W2026054603 date "1978-03-01" @default.
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- W2026054603 title "Myelin Studies in a Case of Subacute Necrotizing Encephalomyelopathy (SNE)." @default.
- W2026054603 doi "https://doi.org/10.1097/00005072-197803000-00004" @default.
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