1.
J Postgrad Med
;
2004 Oct-Dec; 50(4): 270-1
Article
in English
| IMSEAR
| ID: sea-116537
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.
Subject(s)
Ataxia Telangiectasia/diagnosis , Bronchitis/etiology , Child , DNA Mutational Analysis , Female , Humans , IgA Deficiency/etiology , Lymphopenia/etiology , alpha-Fetoproteins/analysis
2.
Acta bioquím. clín. latinoam
;
30(3): 289-90, sept. 1996. tab
Article
in Spanish
| LILACS
| ID: lil-207546