• Arch Iran Med · Dec 2019

    Clinical Presentation of Ataxia-Telangiectasia.

    • Soheila Alyasin, Hossein Esmaeilzadeh, Narjes Ebrahimi, Seyed Hesamodin Nabavizadeh, and Hamid Nemati.
    • Allergy Research Center, Shiraz University of Medical Sciences, Shiraz, Iran.
    • Arch Iran Med. 2019 Dec 1; 22 (12): 682-686.

    BackgroundAtaxia-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.MethodsWe 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.ResultsThe 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.ConclusionAtaxia-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.© 2019 The Author(s). This is an open-access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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