Diagnostic considerations in ataxia-telangiectasia.
نویسندگان
چکیده
منابع مشابه
Diagnostic 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
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 ...
متن کاملMyoclonus in Ataxia–Telangiectasia
BACKGROUND Various movement disorders can be found in ataxia-telangiectasia (AT), including ataxia, dystonia, chorea, and myoclonus, but myoclonus has rarely been described as the predominant feature in AT. CASE REPORT We report two AT patients with prominent myoclonus, illustrating an unusual presentation of this disorder. Sequencing of the ATM gene in the first patient revealed a homozygous...
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ژورنال
عنوان ژورنال: Archives of Disease in Childhood
سال: 1979
ISSN: 0003-9888,1468-2044
DOI: 10.1136/adc.54.9.682