Ataxia Telangiectasia: Presentation and Diagnostic Delay
نویسندگان
چکیده
منابع مشابه
Ataxia telangiectasia: Serological Presentation
Ataxia telangiectasia is a rare autosomal recessive multisystem disorder,having an incidence of 1:40,000 to 1:100,000 with an equal ratio in males and females, characterized by cerebellar ataxia, variable immunodeficiency, oculocutaneous telangiectasia, increased x ray hypersensitivity and susceptibility to malignancies. The causative gene has been localized to chromosome 11q22-23. Here a case ...
متن کاملDiagnostic considerations in ataxia-telangiectasia.
13 children with ataxia-telangiectasia were followed for 6 years. Unlike previously reported cases, these patients had progressive, debilitating neurological disease and slight pulmonary or infectious symptoms. Immunological dysfunction was variable and endocrinological defects were absent. Oculomotor findings, alpha-fetoprotein levels, and the incidence of chromosomal breakage were the most co...
متن کاملDiagnostic considerations in ataxia - telangiectasia JANINE
Boder and Sedgwick (1957) presented the first thorough review of ataxia-telangiectasia (A-T) and stressed the prevalence of sinopulmonary symptoms. The incidence of pulmonary complications was considered sufficiently significant to include them as part of the syndrome-ataxia, oculocutaneous telangiectasia, and recurrent sinopulmonary infections. Since then, reports have shown that sinopulmonary...
متن کاملAtaxia-telangiectasia: atypical presentation and toxicity of cancer treatment.
BACKGROUND The onset of progressive cerebellar ataxia in early childhood is considered a key feature of ataxia-telangiectasia (A-T), accompanied by ocular apraxia, telangiectasias, immunodeficiency, cancer susceptibility and hypersensitivity to ionizing radiation. METHODS We describe the clinical features and course of three Mennonite children who were diagnosed with A-T following the complet...
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...
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ژورنال
عنوان ژورنال: Pediatrics
سال: 2017
ISSN: 0031-4005,1098-4275
DOI: 10.1542/peds.2017-2475nnnn