microcephaly/triglyceride

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Triglyceride storage disease. A report of two affected children associated with neurological abnormalities.

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Two children are described with congenital abnormalities (microcephaly, nystagmus, deafness, hepatomegaly) and the anomalous feature of triglyceride deposits in peripheral adipose tissue associated with severe malnutrition. Peripheral adipose tissue of one of these children displayed: (a) reduced

Triglyceride storage disease: a defect in activation of lipolysis in adipose tissue.

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A child, aged 6 years 3 months, with a triglyceride storage disorder in peripheral adipose tissue, microcephaly, and gross emaciation has been studied at autopsy. The mean triglyceride content of adipocytes in hand and foot was 0.17 +/- 0.02 mug/cell and 0.18 +/- 0.02 mug/cell. Adipocytes from

GLUT-1 deficiency without epilepsy--an exceptional case.

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The GLUT-1 deficiency is a metabolic disorder caused by a defect in glucose transport across the blood-brain barrier as a result of a defect in the glucose-transport protein. Patients present with epileptic seizures, delayed development, ataxia and hypotonia, and in many cases acquired microcephaly.

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