Unusual absence of neurologic symptoms in a six-year old girl with ataxia-telangiectasia.
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.
Trimis
G G
GG
Pediatric Department of University of Athens, Greece. gtrim@lycos.co.uk
Athanassaki
C K
CK
Kanariou
M M
MM
Giannoulia-Karantana
A A
AA
D001260:Ataxia Telangiectasia / Q000175:diagnosis* / Q000235:genetics; D001991:Bronchitis / Q000209:etiology; D002648:Child; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D017098:IgA Deficiency / Q000209:etiology; D008231:Lymphopenia / Q000209:etiology; D000509:alpha-Fetoproteins / Q000032:analysis
D000509:alpha-Fetoproteins