1/5. Congenital generalized lipodystrophy. Report on one case, with special reference to postmortem findings.Generalized lipodystrophy (Berardinelli-Seip's syndrome) was diagnosied in a boy at the age of 8-1/2 months. Ten months later he died because of aspiration of food. Necropsy with special reference to the CNS revealed hypothalamic lesions, probably of a malformative or hamartomatous nature. The findings lend additional support to the view that hypothalamic dysfunction is responsible for the signs and symptoms of generalized lipodystrophy.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
2/5. Familial partial lipodystrophy: two types of an X linked dominant syndrome, lethal in the hemizygous state.Familial lipodystrophy (referred to in publications as the Kobberling-Dunnigan syndrome) comprises at least two clinical phenotypes which are consistent within each pedigree. In type 1 familial lipodystrophy, loss of subcutaneous fat is confined to the limbs, sparing the face and trunk. In type 2 familial lipodystrophy, the trunk is also affected with the exception of the vulva, giving an appearance of labial hypertrophy. diabetes mellitus, hyperlipoproteinaemia, and acanthosis nigricans are present to a variable degree in some but not all patients with familial lipodystrophy, and the abnormal distribution of subcutaneous fat is the essential hallmark of the syndrome. In addition to a survey of published reports, new cases with the syndrome are described. Both types of partial lipodystrophy, occurring either as familial disease or as sporadic cases, have only been observed in female patients. Study of the pedigrees of five families with familial lipodystrophy (two Scottish and three German) suggests an X linked dominant mode of transmission, lethal in the hemizygous (XY) state. The two clinical phenotypes with their variably expressive metabolic abnormalities are consistent either with different mutants of the same allele or with two genes on adjacent loci. Other clinical phenotypes of familial lipodystrophy may exist due to further mutations of the same allele or of genes on adjacent loci. The nature of the disorder in patients with familial lipodystrophy usually escapes recognition for many years and the syndrome is almost certainly much commoner than the few families described to date suggest.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
3/5. Membranocystic lesions of the lung in Nasu-Hakola disease.Massive membranocystic lesions of the lung were found in an autopsy case of Nasu-Hakola disease. The membranocystic structures are virtually identical to those found in adipose tissue, including bone marrow. Capillary endothelia and alveolar epithelial lining cells do not participate in membranous structure formation, these structures being found in the alveolar septa and not apparently of an embolic nature. They may be related to alveolar septal cells in a broad sense. The pathogenesis of this disease is discussed in relation to the lesions of the lung.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
4/5. Leprechaunism (Donohue's syndrome) in a low birth weight infant.A 910 gm infant with leprechaunism, the smallest reported infant with this syndrome, was described. Marked discrepancies were noted between gestational age as assessed by physical examination, bone and dental roentgenographic studies, and renal histology. Radiographic and pathologic features of this syndrome were discussed. failure to thrive characterized the course of this infant despite adequate caloric intake. The precarious nature of these infants and difficulties encountered in obtaining adequate studies to delineate the cause of this syndrome were emphasized.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
5/5. Discordant metabolic actions of insulin in extreme lipodystrophy of childhood.Congenital lipodystrophy includes a group of disorders characterized by total or partial absence of adipose tissue and insulin resistance. In this study we investigated the nature of insulin resistance in an 11-yr-old girl with one form of congenital lipodystrophy. We examined in vivo insulin and glycemic responses to feeding and iv glucose and in vitro amino acid and thymidine incorporation responses of skin fibroblasts to insulin exposure. In addition, we used stable isotope infusions of glucose, glycerol, and amino acids to investigate the in vivo metabolic actions of insulin on carbohydrate, fat, and protein. At 5 yr of age, she first demonstrated clinical glucose intolerance. Her basal insulin levels were normal (129 and 114 pmol/L), but increased markedly (peak values, 1304 and 5045 pmol/L) after iv glucose and a mixed meal. insulin antibodies were undetectable, and specific [125I]insulin binding to her skin fibroblasts was normal. Both [3H]aminoisobutyric acid transport and [3H]thymidine incorporation by her fibroblasts were similar to responses obtained using control cells. At 11 5/12 yr of age, while receiving an infusion of stable isotopes, infusions of insulin at doses of 0.1 and 0.3 U/kg BW.h were ineffective in reducing her blood glucose despite elevating her serum insulin level to approximately 2500 pmol/L. Resting metabolic rate, respiratory quotient, VCO2, carbohydrate and lipid oxidation rates, glucose production rate, glycerol appearance rate, and plasma glycerol concentrations were unperturbed by the insulin infusions. By contrast, the insulin infusions reduced plasma leucine concentrations (124.2 to 86.1 to 66.7 mumol/L) and 13CO2 production rates (0.034 to 0.017 to 0.011 mumol/kg/min; baseline, 0.1, and 0.3 U insulin/kg.h, respectively). The leucine appearance rate declined (1.96 to 1.72 mumol/kg.min) in response to the 0.1 U/kg.h dose, but did not decline further in response to the 0.3 U/kg.h dose. The leucine oxidation rate also declined (0.87 to 0.39 to 0.25 mumol/kg.min), and there was a dose-related reduction in most plasma amino acid concentrations. Finally, nonoxidative leucine disposal increased progressively (1.09, 1.34, and 1.48 mumol/kg.min), suggestive of an insulin-induced increase in protein synthesis. These data indicate profound metabolic resistance to the carbohydrate and lipid actions of insulin, with preservation of protein anabolism. These observations suggest that in this patient, the biological effects of insulin on carbohydrate, lipid, and protein are distinct metabolic actions, regulated independently.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |