Unusual absence of neurologic symptoms in a six-year old girl with ataxia-telangiectasia.
J Postgrad Med
;
2004 Oct-Dec; 50(4): 270-1
Article
Dans Anglais
| 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.
Texte intégral:
Disponible
Indice:
IMSEAR (Asie du Sud-Est)
Sujet Principal:
Bronchite
/
Femelle
/
Humains
/
Ataxie-télangiectasie
/
Analyse de mutations d'ADN
/
Alphafoetoprotéines
/
Enfant
/
Déficit en IgA
/
Lymphopénie
langue:
Anglais
Texte intégral:
J Postgrad Med
Année:
2004
Type:
Article
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