1.
J Pediatr
; 159(5): 862-4, 2011 Nov.
Artigo
em Inglês
| MEDLINE
| ID: mdl-21784454
RESUMO
Methylmalonic acidemia (MMA) is a heterogeneous disorder, with onset from infancy to adulthood and varying degrees of organ involvement and severity. Cardiac disease is a known lethal complication of other organic acidemias, but has not been associated with MMA. We identified 3 patients with MMA and cardiac disease.
Assuntos
Erros Inatos do Metabolismo dos Aminoácidos/complicações , Cardiomiopatia Dilatada/etiologia , Cardiomiopatia Hipertrófica/etiologia , Estenose da Valva Aórtica/diagnóstico , Estenose da Valva Aórtica/etiologia , Cardiomegalia/diagnóstico , Cardiomegalia/etiologia , Cardiomiopatia Dilatada/diagnóstico , Cardiomiopatia Hipertrófica/diagnóstico , Pré-Escolar , Ecocardiografia , Eletrocardiografia , Evolução Fatal , Feminino , Humanos , Ácido Láctico/sangue , Masculino , Derrame Pericárdico/diagnóstico por imagem , Volume Sistólico , Adulto Jovem
2.
J Pediatr
; 150(2): 202-6, 2007 Feb.
Artigo
em Inglês
| MEDLINE
| ID: mdl-17236903
RESUMO
A 5-year-old male with Gaucher's disease type 3 developed progressive mesenteric and mediastinal lymphadenopathy over 12 months, despite enzyme replacement therapy, contributing to the development of a protein-losing enteropathy. These complications are unique, indicating poorly accessible, differentially responsive compartments in patients with Gaucher's disease who are receiving enzyme therapy.