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[Ataxia telangiectasia: review of 13 new cases]
O Valbuena1, P Póo, J Campistol
1Servicio de Neuropediatria, Unitat Integrada Hospital Clinic-Sant Joan de Déu, Barcelona.
Revista De Neurologia
|January 1, 1996
Abstract:
We report the review of 13 patients who were diagnosed of ataxia telangiectasia before 6 years of age. All of them manifested cerebelous ataxia, oculocutaneus telangiectasias (11), sinopulmonary infections (9), dystonia (9), oculomotor apraxia (9) and Burkitt linfoma (1). We analyse the most common presentation of the disease in early stages and the complementary studies performed. The prompt diagnosis allow us a better control of infections, malignant process and finally the possibility of genetic counseling.