Lipodystrophie congénitale généralisée de type 1 avec atteinte neurologique

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Abstract

Congenital generalized lipodystrophy (CGL) is a rare disorder characterized by near complete absence of adipose tissue from birth. At least 2 genes located in 9q34 (AGPAT2) and 11q13 (Seipin) are implicated in type 1 and 2, respectively, and result in insulin resistance. We report here a novel case of CGL type 1 resulting from a novel homozygote mutation in the AGPAT2 gene. The clinical picture included pseudoathletic muscular hypertrophy, hypertrophic cardiomyopathy, enlarged liver, hypermetabolism rate, and hyperinsulinemia in a 1-year-old child from Libya. Peripheral hypertonia and reflex excitability revealed signal abnormalities in white matter on magnetic resonance imagery, which has not been described previously in the literature. © 2008 Elsevier Masson SAS. All rights reserved.

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Ben Turkia, H., Tebib, N., Azzouz, H., Slim Abdelmoula, M., Ben Chehida, A., Hubert, P., … Ben Dridi, M. F. (2009). Lipodystrophie congénitale généralisée de type 1 avec atteinte neurologique. Archives de Pediatrie, 16(1), 27–31. https://doi.org/10.1016/j.arcped.2008.10.005

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