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

G G Trimis, C K Athanassaki, M M Kanariou, A A Giannoulia-Karantana
Journal of Postgraduate Medicine  
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
more » ... and delay the proper interventional measures.
pmid:15623968 fatcat:d3bgguttnvakrmgubgim4j4pnq