RESUMO

We report a male patient, chromosomal complement 44 XY with Turner's phenotype, who has multiple skeletal, genitourinary and mild cardiac abnormalities, without hypogonadism. This patient developed a diffuse infiltrative pulmonary disease which result in pulmonary fibrosis, respiratory insufficiency and cardiac failure. He has also mixed cryoglobulinemia (Type III) with antigammaglobulin antibodies. The relationship among these problems and his phenotype is discussed. Apparently there is only a coincidental association.

Assuntos

Transtornos das Proteínas Sanguíneas/diagnóstico , Síndrome de Noonan/diagnóstico , Fibrose Pulmonar/diagnóstico , Adulto , Transtornos das Proteínas Sanguíneas/imunologia , Crioglobulinas/análise , Diagnóstico Diferencial , Eletrocardiografia , Humanos , Masculino , Síndrome de Noonan/imunologia , Fenótipo , Fibrose Pulmonar/imunologia , Testes de Função Respiratória