Unusual absence of neurologic symptoms in a six-year old girl with ataxia-telangiectasia.
J Postgrad Med
;
2004 Oct-Dec; 50(4): 270-1
Artigo
em Inglês
| IMSEAR
| ID: sea-116537
ABSTRACT
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.
Texto completo:
DisponíveL
Índice:
IMSEAR (Sudeste Asiático)
Assunto principal:
Bronquite
/
Feminino
/
Humanos
/
Ataxia Telangiectasia
/
Análise Mutacional de DNA
/
Alfa-Fetoproteínas
/
Criança
/
Deficiência de IgA
/
Linfopenia
Idioma:
Inglês
Revista:
J Postgrad Med
Ano de publicação:
2004
Tipo de documento:
Artigo
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