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J Postgrad Med. 2004 Oct-Dec;50(4):270-1.

Unusual absence of neurologic symptoms in a six-year old girl with ataxia-telangiectasia.

Author information

1
Pediatric Department of University of Athens, Greece. gtrim@lycos.co.uk

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.

PMID:
15623968
[Indexed for MEDLINE]
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