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
in English
| 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.
Full text:
Available
Index:
IMSEAR (South-East Asia)
Main subject:
Bronchitis
/
Female
/
Humans
/
Ataxia Telangiectasia
/
DNA Mutational Analysis
/
Alpha-Fetoproteins
/
Child
/
IgA Deficiency
/
Lymphopenia
Language:
English
Journal:
J Postgrad Med
Year:
2004
Type:
Article
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