| Literature DB >> 8852005 |
O Valbuena1, P Póo, J Campistol, A Vernet, E Fernández-Alvarez, I Sierra, E Gean.
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.Entities:
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Year: 1996 PMID: 8852005
Source DB: PubMed Journal: Rev Neurol ISSN: 0210-0010 Impact factor: 0.870