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Radiosensitivity in ataxia-telangiectasia
The British Journal of Radiology, 1975Ataxia-telangiectasia is a syndrome of autosomal recessive inheritance characterized by cerebellar ataxia and oculocutaneous telangiectasia (Boder and Sedgwick, 1958; Karpati et al., 1965). The ataxia, which is progressive, is usually first noticed when the child starts to walk.
P N, Cunlift +4 more
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Neurologic Clinics, 1987
Ataxia-telangiectasia is an autosomal recessive disorder characterized by early ataxia, oculocutaneous telangiectasias, sinopulmonary infections, selective immunodeficiency, and a high risk of malignancy. The appearance of the telangiectasias often allows the diagnosis to be made in a child with ataxia.
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Ataxia-telangiectasia is an autosomal recessive disorder characterized by early ataxia, oculocutaneous telangiectasias, sinopulmonary infections, selective immunodeficiency, and a high risk of malignancy. The appearance of the telangiectasias often allows the diagnosis to be made in a child with ataxia.
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DYSGERMINOMA IN A CHILD WITH ATAXIA–TELANGIECTASIA
Pediatric Hematology and Oncology, 2007Ataxia-telangiectasia is an autosomal recessive disease characterized by progressive cerebellar ataxia, oculocutaneous telangiectasia, immunodeficiency, high incidence of cancer, and increased sensitivity to ionizing radiation. The authors report a case of dysgerminoma in a child with high alpha-fetoprotein, CA125 and beta-human chorionic gonadotropin,
Köksal, Yavuz +6 more
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Journal of Computer Assisted Tomography, 1994
The aim of our study was to describe the neuroradiologic features of 12 patients with ataxia-telangiectasia (A-T), a degenerative multisystemic autosomal recessive hereditary disorder with onset in childhood. Clinical features include cerebellar ataxia, oculocutaneous telangiectasias, and recurrent bronchopulmonary infections.
L, Farina +8 more
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The aim of our study was to describe the neuroradiologic features of 12 patients with ataxia-telangiectasia (A-T), a degenerative multisystemic autosomal recessive hereditary disorder with onset in childhood. Clinical features include cerebellar ataxia, oculocutaneous telangiectasias, and recurrent bronchopulmonary infections.
L, Farina +8 more
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Archives of Ophthalmology, 1967
Ataxia-telangiectasia (AT) is a genetically determined disease characterized by progressive cerebellar ataxia, oculocutaneous telangiectasia and recurrent sinopulmonary infections. Seven cases are reported together with necropsy findings in two patients. Ocular signs are prominent and in addition to bulbar conjunctival telangiectasia include nystagmus,
R D, Harley, H W, Baird, E M, Craven
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Ataxia-telangiectasia (AT) is a genetically determined disease characterized by progressive cerebellar ataxia, oculocutaneous telangiectasia and recurrent sinopulmonary infections. Seven cases are reported together with necropsy findings in two patients. Ocular signs are prominent and in addition to bulbar conjunctival telangiectasia include nystagmus,
R D, Harley, H W, Baird, E M, Craven
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Progressive cerebellar ataxia with extensive peripheral telangiectasias in ataxia-telangiectasia
BMJ Case ReportsWe present a school-aged girl with ataxia-telangiectasia (AT), a rare autosomal recessive neurodegenerative disorder. She presented with progressive cerebellar ataxia beginning at 12 months, ocular telangiectasias developing at 4 years and unusually extensive cutaneous telangiectasias on the dorsum of hands, feet and limbs emerging at 5 years ...
Gizem O Ozturk, Yagiz A Aksoy
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Multidisciplinary Management of Ataxia Telangiectasia: Current Perspectives
Journal of Multidisciplinary Healthcare, 2021+2 more
exaly