Clinical and Laboratory Features of Ataxia Telangiectasia
نویسندگان
چکیده
منابع مشابه
Ataxia-telangiectasia: immunologic profile and clinical outcome
Results In our service, a hundred and thirty patients with the diagnosis of a primary immunodeficiency are followedup and from this sample we have four patients with AT. Acessing clinical history and the laboratory findings becomes clear that a large variability occurs concerning their immune system. All subjects presented recurrent infections, especially sinopulmonary . In laboratory evaluatio...
متن کاملDifferent clinical and laboratory evolutions in ataxia-telangiectasia syndrome: report of four cases.
We report four patients with ataxia-telangiectasia syndrome that presented varied neurologic evolution. Three patients initially presented neurologic alterations of slow progression, evolving to late immunocompromised conditions. The fourth patient presented, from symptom onset, immune and neurologic debilitation, that were both severe and of fast progression. The chronological sequence of the ...
متن کاملClinical and Laboratory Features of Anticonvulsant Cutaneous Reactions
Background: Cutaneous drug reaction is a common side effect of antiepileptic drugs (AEDs). In recent years, a significant increase in cases of cutaneous drug reaction due to AEDs and some changes in its pattern in our department have been noticed. Therefore, we carried out this study to present clinical and paraclinical characteristics of these cases. Methods: All records of patients who were h...
متن کاملAtaxia-telangiectasia
Objective Ataxia-telangiectasia (AT) is a rare, severe, and ineluctably progressive multisystemic neurodegenerative disease. Variant AT phenotypes have been described in patients with mildand late-onset neurologic deterioration and atypical features (dystonia and myoclonus). We report on the clinical characteristics and transcriptome profile of patients with a typical AT presentation and genoty...
متن کاملAtaxia-telangiectasia.
Ataxia-telangiectasia is a complex syndrome that includes a very high cancer risk in children with a progressive cerebellar ataxia, the onset of which occurs in early infancy. Ocular telangiectasiae often do not appear until several years after the ataxia. The most common type of malignancy is lymphoma, usually of the B-cell type. Leukemias also occur. Failure to diagnose ataxia-telangiectasia ...
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ژورنال
عنوان ژورنال: Pediatric Neurology Briefs
سال: 2007
ISSN: 2166-6482,1043-3155
DOI: 10.15844/pedneurbriefs-21-8-10