منابع مشابه
A Case Study of Ataxia Teilangiectasia Associated with Hodgkin Diease
A case of ataxia telangiectasia in a 7 year-old boy associated with Hodgkin disease was presented. Abnormalities of motion along with repeated respiratory tract infections requiring hospitalization started when he was 2 years old. The patient was placed on MOPP protocol Hodgkin treatment in addition to replacement therapy as advised.
متن کاملAtaxia telangiectasia
Onset of the disease is often during the second year of life: there is progressive cerebellar ataxia (initially truncal, with further peripheral extend); ataxia is a constant feature in this disease; oculomotor apraxia, dysarthria, and dystonia; leading to muscular atrophia. Telangiectasia: facial region exposed to sunlight, and eyes (conjunctiva). Combined immunodeficiency (in 70 %): thymus hy...
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 کاملTabetic Ataxia
edition of Dr. Freyberger's English translation is exceedingly welcome. The first part, dealing with the clinical and mechanical aspects of ataxia and its accompanying phenomenon of hypotonia, is clearly put and enables the reader to gain an insight into the patients' difficulties and limitations, a preliminary knowledge of which is essential if the fall benefit of the treatment is to be realis...
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ژورنال
عنوان ژورنال: CONTINUUM: Lifelong Learning in Neurology
سال: 2016
ISSN: 1080-2371
DOI: 10.1212/con.0000000000000362