TWO SIBLING CASES WITH LIPOATROPHIC DIABETES

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Abstract
Results of clinical investigations on two sibling patients, a brother and a sister, were presented in detail. From early infancy they showed the following main features: absence of subcutaneous fat, hepatomegaly with fatty infiltration of the liver, and abnormal carbohydrate metabolism and hyperpigmentation. In the elder sister, a ten-years-old girl, subcutaneous fat tissue was markedly atrophied with insulin-resistant diabetes. Her liver showed a severe fatty degeneration and infiltration associated with cirrhosis. In her brother, a 4-years-old boy, no glycosuria was observed, in spite of the occurrence of similar lipoatrophy accompanied with fatty cirrhosis of the liver. Serum lipids, serum phospholipids, and oral fat loading test showed normal values in these patients. Absorption of carbohydrate was also normal. Plasma level of growth hormone, and thyroid and adrenal function were normal in these cases. An electroencephalographic study revealed hypothalamic lesions in both cases. It is concluded from these findings that a primary defect in lipoatrophic diabetes exists in the mechanism for subcutaneous storage of fat, leading to disordered carbohydrate metabolism and increased hepatic storage of fat with resulting cirrhosis. Namely the fat degeneration of the liver, the abnormalities of carbohydrate metabolism and the hyperpigmentation of the skin were suspected to occur secondarily. A causative relationship was assumed to exist between the hypothalamic lesions and a failing hypothalamic control of pituitary function. It was thought that lipoatrophic diabetes was a homozygous recessive autosomal gene state.