RESUMO
Two patients who were initially given a diagnosis of Langerhans' cell histiocytosis on the basis of the clinical, radiologic, and biopsy findings had mycobacterial infection subsequently identified. The correct diagnosis of dominant partial interferon-gamma receptor deficiency was established.
Assuntos
Histiocitose de Células de Langerhans/diagnóstico por imagem , Histiocitose de Células de Langerhans/patologia , Receptores de Interferon/deficiência , Receptores de Interferon/genética , Vacina BCG/efeitos adversos , Bacillus/isolamento & purificação , Pré-Escolar , Diagnóstico Diferencial , Feminino , Humanos , Lactente , Infecções por Mycobacterium/diagnóstico , Infecções por Mycobacterium/etiologia , Radiografia , Receptor de Interferon gamaRESUMO
A study of heart specimens without ventricular septal defect from patients with down's syndrome showed a significant enlargement of the membranous ventricular septum as compared to the normal heart. This increase in area of the ventricular septum occupied by membranous tissue from 2 to 9% may not only predispose patients with Down's syndrome to congenital heart disease, but may be one end of a spectrum of cardiac anomalies related to malalignment or maldevelopment of the ventricular septum in Down's syndrome.