Ataxia telangiectasia: A diagnostic challenge. Case report
نویسندگان
چکیده
منابع مشابه
Autoimmune Hemolytic Anemia in a Patient with Probable Ataxia Telangiectasia: A Case Report
Background: Ataxia telangiectasia (AT) is one of the combined immunodeficiency syndromes with immunologic, neurologic, endocrinologic, hepatic and cutaneous abnormalities. Regarding the fact that autoimmune disorders; such as autoimmune hemolytic anemia (AIHA), are not generally expected in the course of AT, we present a patient with an unusual presentation of these two conditions. Case present...
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...
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Ataxia telangiectasia is a genetically inherited multisystem disorder with predominant feature being telangiectasia and cerebellar ataxia. In this report, a family of three siblings suffering from ataxia telangiectasia is described. The proband presented with dystonia and dystonic myoclonus, both of which are rare presenting features of ataxia telangiectasia.
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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...
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Solitary fibrous tumor (SFT) of prostate is an unusual type of mesenchymal neoplasm that can elicit a benign or malignant phenotype. It represents a diagnostic challenge as it can simulate poorly differentiated adenocarcinoma and various mesenchymal neoplasms of prostate. We report a case of prostate SFT in a 54-year-old patient, which was clinically misdiagnosed as nodular hyperplasia of prost...
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ژورنال
عنوان ژورنال: Case reports
سال: 2020
ISSN: 2462-8522
DOI: 10.15446/cr.v6n2.83219