Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 2 de 2
Filtrar
Añadir filtros








Intervalo de año
1.
J Postgrad Med ; 2004 Oct-Dec; 50(4): 270-1
Artículo en Inglés | IMSEAR | ID: sea-116537

RESUMEN

Ataxia-telangiectasia (A-T) is a rare multisystem, neurodegenerative genetic disorder. We present a case of a 6-year-old girl who had a history of frequent respiratory infections and also had ocular and immunological features of this syndrome. The absence of neurological symptoms, which is very unusual for a patient of this age, raised many difficulties in the diagnosis of the disease. It is concluded that a normal neurological assessment must not exclude the diagnosis of A-T and delay the proper interventional measures.


Asunto(s)
Ataxia Telangiectasia/diagnóstico , Bronquitis/etiología , Niño , Análisis Mutacional de ADN , Femenino , Humanos , Deficiencia de IgA/etiología , Linfopenia/etiología , alfa-Fetoproteínas/análisis
SELECCIÓN DE REFERENCIAS
DETALLE DE LA BÚSQUEDA