Ataxia Telangiectasia: A 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 کاملDystonia as presenting manifestation of ataxia telangiectasia : a case report.
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.
متن کاملautoimmune 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 کاملAtaxia telangiectasia: a review
DEFINITION OF THE DISEASE Ataxia telangiectasia (A-T) is an autosomal recessive disorder primarily characterized by cerebellar degeneration, telangiectasia, immunodeficiency, cancer susceptibility and radiation sensitivity. A-T is often referred to as a genome instability or DNA damage response syndrome. EPIDEMIOLOGY The world-wide prevalence of A-T is estimated to be between 1 in 40,000 and ...
متن کاملCase Reports Myoclonus 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: Journal of Dhaka Medical College
سال: 1970
ISSN: 2219-7494,1028-0928
DOI: 10.3329/jdmc.v19i1.6258