Clinical Presentation of Ataxia-Telangiectasia

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ALYASIN SOHEILA; ESMAEILZADEH HOSSEIN; Ebrahimi Narjes; Nabavizadeh Seyed Hesamedin; NEMATI HAMID

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Journal: ARCHIVES OF IRANIAN MEDICINE Year:2019 | Volume:22 | Issue:12 Page(s): 682-686

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Title

Clinical Presentation of Ataxia-Telangiectasia

Author(s)

Keywords

Ataxia telangiectasia

Clinical manifestations

Immunologic factors

Abstract

Background: Ataxia-telangiectasia is a multi-system disorder in which neurologic impairment and immune deficiency are observed. In the present study, patients with ataxia-telangiectasia were followed to provide information regarding clinical and immunological features. Methods: We report a case series of 18 patients diagnosed with ataxia-telangiectasia, who were referred to a tertiary center of clinical immunology from 2008– 2018. Clinical presentations, medical records and lab data were observed during this period with a mean follow-up time of 4. 57 ± 2. 66 years. Results: The mean age of the patients was 10. 92 ± 3. 24 years (11 females and 7 males). Thirteen patients (72. 22%) were from families with consanguinity. Ataxia was the most common clinical feature, observed in 18 (100%) patients. The predominant clinical presentations were tremor and oculocutaneous telangiectasia, observed in 14 (77. 8%) patients; dysarthria and oculomotor apraxia, observed in 13 (72. 2%) patients. Infections were recorded in 12 (70. 6%) patients. Decreased IgG level and IgA levels were observed in 5 (33. 3%) and 6 (40. 0%) patients, respectively. Decreased B-cell number and T-cell number were noted in 7 (46. 67%) and 11 (73. 33%) patients, respectively. Three (16. 7%) patients were diagnosed with acute lymphoblastic leukemia and two of them expired subsequently. Conclusion: Ataxia-telangiectasia is a progressive disease with no established therapy; so, it necessitates early diagnosis and follow-up of the patients. The presented clinical and immunological data in this study may help with diagnosis and management of the disease complications.

Cites

A Case Report of Acute T Cell Lymphoblastic Leukemia with Complex Chromosomal Abnormalities in a Child with Ataxia Telangiectasia

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APA: Copy

ALYASIN, SOHEILA, ESMAEILZADEH, HOSSEIN, Ebrahimi, Narjes, Nabavizadeh, Seyed Hesamedin, & NEMATI, HAMID. (2019). Clinical Presentation of Ataxia-Telangiectasia. ARCHIVES OF IRANIAN MEDICINE, 22(12), 682-686. SID. https://sid.ir/paper/281898/en

Vancouver: Copy

ALYASIN SOHEILA, ESMAEILZADEH HOSSEIN, Ebrahimi Narjes, Nabavizadeh Seyed Hesamedin, NEMATI HAMID. Clinical Presentation of Ataxia-Telangiectasia. ARCHIVES OF IRANIAN MEDICINE[Internet]. 2019;22(12):682-686. Available from: https://sid.ir/paper/281898/en

IEEE: Copy

SOHEILA ALYASIN, HOSSEIN ESMAEILZADEH, Narjes Ebrahimi, Seyed Hesamedin Nabavizadeh, and HAMID NEMATI, “Clinical Presentation of Ataxia-Telangiectasia,” ARCHIVES OF IRANIAN MEDICINE, vol. 22, no. 12, pp. 682–686, 2019, [Online]. Available: https://sid.ir/paper/281898/en

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