Case report
French
Ben Turkia H 1, Tebib N 1, Azzouz H 1, Abdelmoula MS 1, Ben Chehida A 1, Hubert P 2, Douira W 3, Ben Dridi MF 1.
1-Service de pédiatrie, hôpital La-Rabta, rue Djebal Lakhdhar, 1007 Jebbari, Tunis, Tunisie 2-Institut de pathologie et de génétique, allée des Templiers, 416280 Gerpinnes, Belgique 3-Service de radiologie, hôpital d’enfants, Tunis
Arch Pediatr. 2009 Jan;16(1):27-31.
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.
Keywords: Congenital generalized lipodystrophy: neurological involvement
Link/DOI: http://www.sciencedirect.com/science?_ob=ArticleURL&_udi=B6VKK-4TYPJ7G-1&_user=7195183&_rdoc=1&_fmt=&_orig=search&_sort=d&view=c&_acct=C000029838&_version=1&_urlVersion=0&_userid=7195183&md5=d1666520d7056b70b50981c6e3ea49c3