title: Early infantile cardiomyopathy and liver disease: a multisystemic disorder caused by congenital lipodystrophy.
abstract: Congenital generalized lipodystrophy is a rare inherited multisystemic disorder associated with disturbances of adipocyte functions. We report a young boy presenting at age 1 month with liver disease and severe hypertrophic cardiomyopathy. Despite this multisystemic involvement and contrasting with a cachectic appearance, the anthropometric parameters showed marked overgrowth (+4 DS), leading to diagnosis of congenital lipodystrophy, which was confirmed by the presence of the new homozygous c.259C>T (p.Gln87*) mutation in the AGPAT2 gene. Early infantile cardiomyopathy should be considered as a specific endophenotype in Berardinelli-Seip Congenital Lipodystrophy syndrome.
authors: Metabolic Unit, Department of Medical Genetics, CHU and University de Liège, Domaine Sart-Tilman Bât B35, B-4000 Liège, Belgium. fg.debray@chu.ulg.ac.be
authors: François-Guillaume
authors: FG
authors: Debray
authors: Christel
authors: C
authors: Baguette
authors: Stéphanie
authors: S
authors: Colinet
authors: Lionel
authors: L
authors: Van Maldergem
authors: Christine
authors: C
authors: Verellen-Dumouin
mesh_terms: D000217:Acyltransferases / Q000235:genetics; D002312:Cardiomyopathy, Hypertrophic / Q000175:diagnosis* / Q000209:etiology / Q000235:genetics; D018389:Codon, Nonsense; D003241:Consanguinity; D006801:Humans; D007223:Infant; D052497:Lipodystrophy, Congenital Generalized / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D008107:Liver Diseases / Q000175:diagnosis* / Q000209:etiology / Q000235:genetics; D008297:Male
chemical_list: D018389:Codon, Nonsense; D000217:Acyltransferases; C018764:2-acylglycerophosphate acyltransferase