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Journal of Postgraduate Medicine
Medknow Publications and Staff Society of Seth GS Medical College and KEM Hospital, Mumbai, India
ISSN: 0022-3859
EISSN: 0022-3859
Vol. 50, No. 4, 2004, pp. 270-271
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Bioline Code: jp04093
Full paper language: English
Document type: Research Article
Document available free of charge
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Journal of Postgraduate Medicine, Vol. 50, No. 4, 2004, pp. 270-271
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Case Report - Unusual absence of neurologic symptoms in a six-year old girl with ataxia-telangiectasia
Trimis GeorgiosG, Athanassaki CK, Kanariou MM, Giannoulia-Karantana AA
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.
Keywords
Ataxia-telangiectasia, immunodeficiency, normal neurological assessment.
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© Copyright 2004 Journal of Postgraduate Medicine.
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