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 CASE REPORT
Year : 2004  |  Volume : 50  |  Issue : 4  |  Page : 270-271

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


1 Pediatric Department of University of Athens, Greece
2 Department of Immunology, Children’s Hospital Agia Sophia, Athens, Greece

Correspondence Address:
Georgios G Trimis
Pediatric Department of University of Athens
Greece
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Source of Support: None, Conflict of Interest: None


PMID: 15623968

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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.






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Online since 12th February '04
© 2004 - Journal of Postgraduate Medicine
Official Publication of the Staff Society of the Seth GS Medical College and KEM Hospital, Mumbai, India
Published by Wolters Kluwer - Medknow