RESUMO
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.
Assuntos
Cardiomiopatia Hipertrófica/diagnóstico , Lipodistrofia Generalizada Congênita/diagnóstico , Hepatopatias/diagnóstico , Aciltransferases/genética , Cardiomiopatia Hipertrófica/etiologia , Cardiomiopatia Hipertrófica/genética , Códon sem Sentido , Consanguinidade , Humanos , Lactente , Lipodistrofia Generalizada Congênita/complicações , Lipodistrofia Generalizada Congênita/genética , Hepatopatias/etiologia , Hepatopatias/genética , MasculinoRESUMO
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.
