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Ataxia telangiectasia in Turkey: multisystem involvement of 91 patients

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Abstract

Background

Ataxia telangiectasia (AT) is a genetically based multisystemic disorder. We aimed to make a comprehensive evaluation of multisystem involvement in AT by describing clinical features and outcome of 91 patients.

Methods

Medical records of the patients who were diagnosed and followed by a multidisciplinary approach during a 27-year period (1988-2015) were reviewed retrospectively.

Results

Forty six female and 45 male patients with a mean follow-up period of 39.13±4.28 months were evaluated. The mean age at the time of symptom onset and diagnosis were 15.4±1.09 months and 73.61±4.11 months, respectively. Neurological abnormalities were progressive truncal ataxia, nystagmus, dysarthria, oculomotor apraxia and choreoathetosis. Thirty one patients (34.1%) became dependent on wheelchair at a mean age of 12.1±2.8 years. Eleven patients (12.1%) became bedridden by a mean age of 14.7±1.8 years. Cranial magnetic resonance imaging revealed pathological findings in 47/66 patients. Abnormal immunological parameters were determined in 51/91 patients: immunoglobulin (Ig)A deficiency (n=38), lymphopenia (n=30), IgG (n=15) and IgG2 (n=11) deficiency. Occurrence of recurrent sinopulmonary infections (n=45) and bronchiectasis (n=22) were found to be more common in patients with impaired immunological parameters (P=0.029 and P=0.023, respectively). Malignancy developed in 5 patients, being mostly lymphoreticular in origin and resulted in death of 4 patients.

Conclusions

AT is a long lasting disease with multisystem involvement necessitating multidisciplinary follow up, as described in our cohort. Early diagnosis of malignancy and supportive treatments regarding pulmonary and neurological health may prolong survival and increase the quality of life.

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Acknowledgements

We thank Dr. Ezgi Topyildiz for her help in data acquisition.

Author information

Authors and Affiliations

  1. Department of Pediatric Infectious Diseases and Clinical Immunology, Istanbul Medical Faculty, Istanbul University, Tophanelioglu Street, Guzelyapi Buildings, A blok, D:12, Uskudar, Istanbul, 34662, Turkey

    Hacer Akturk, Murat Sutcu, Ayper Somer, Sanem Piskin, Manolya Acar & Nuran Salman

  2. Department of Pediatric Neurology, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey

    Meral Ozmen & Burak Tatli

  3. Department of Medical Genetics, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey

    Umut Altinoglu

Authors
  1. Hacer Akturk
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  2. Murat Sutcu
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  6. Meral Ozmen
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Corresponding author

Correspondence to Hacer Akturk.

Additional information

Funding: No specific grant was received for this study from any funding agency in the public, commercial, or not-for-profit sectors.

Ethical approval: This study was approved by the Ethical Committee of Istanbul Medical Faculty.

Competing interest: The authors declare that there is no conflict of interest.

Contributors: Akturk H wrote the main body of the article under the supervision of all authors. All authors contributed to the study design, data analysis, interpretation and approved the final version.

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Akturk, H., Sutcu, M., Somer, A. et al. Ataxia telangiectasia in Turkey: multisystem involvement of 91 patients. World J Pediatr 13, 465–471 (2017). https://doi.org/10.1007/s12519-017-0011-z

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  • DOI: https://doi.org/10.1007/s12519-017-0011-z

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