RESUMEN
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.
Asunto(s)
Cardiomiopatía Hipertrófica/diagnóstico , Lipodistrofia Generalizada Congénita/diagnóstico , Hepatopatías/diagnóstico , Aciltransferasas/genética , Cardiomiopatía Hipertrófica/etiología , Cardiomiopatía Hipertrófica/genética , Codón sin Sentido , Consanguinidad , Humanos , Lactante , Lipodistrofia Generalizada Congénita/complicaciones , Lipodistrofia Generalizada Congénita/genética , Hepatopatías/etiología , Hepatopatías/genética , MasculinoRESUMEN
A 10-month-old girl with a history of recurrent candidiasis, developmental delay, and a fulminant varicella infection is described. The diagnosis of purine nucleoside phosphorylase (PNP) deficiency was suggested by a reduced level of serum uric acid and confirmed by measurement of PNP activity. A human leukocyte antigen-matched bone marrow transplantation resulted in immune reconstitution, but poor neurodevelopmental progression.