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Arch Iran Med. 2019;22(12): 682-686.
PMID: 31823618
Scopus ID: 85076357715
  Abstract View: 2003
  PDF Download: 1612

Original Article

Clinical Presentation of Ataxia-Telangiectasia

Soheila Alyasin 1,2, Hossein Esmaeilzadeh 1,2*, Narjes Ebrahimi 1, Seyed Hesamodin Nabavizadeh 1,2, Hamid Nemati 3

1 Allergy Research Center, Shiraz University of Medical Sciences, Shiraz, Iran
2 Department of Allergy and Clinical Immunology, Namazi Hospital, Shiraz University of Medical Sciences, Shiraz, Iran
3 Shiraz Neuroscience Research Center, Shiraz University of Medical Sciences, Shiraz, Iran
*Corresponding Author: Email: esmailzadeh_ho@yahoo.com

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.

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Abstract View: 2004

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Submitted: 26 Sep 2018
Accepted: 16 Apr 2019
ePublished: 01 Dec 2019
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