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Ataxia-Telangiectasia and Associated Bronchiectasis: Case Report and Literature Review
Roxana Taraș1,2, Marina Dima2, Mihaela Axente3
1Department of Pediatrics, Carol Davila University of Medicine and Pharmacy, 020021 Bucharest, Romania.
Journal of Clinical Medicine
|June 26, 2026
Summary
Ataxia-telangiectasia (A-T) is a rare genetic disorder causing neurological and immune issues. This case highlights diagnostic challenges in a pediatric patient with A-T presenting with chronic respiratory symptoms and bronchiectasis.
Area of Science:
- Genetics
- Immunology
- Neurology
Background:
- Ataxia-telangiectasia (A-T) is a rare autosomal recessive disorder caused by ATM gene mutations.
- It leads to progressive neurological impairment, immunodeficiency, and increased cancer risk.
- Pulmonary complications, including bronchiectasis, are common due to infections and impaired airway clearance.
Purpose of the Study:
- To report a challenging case of A-T in a pediatric patient with chronic respiratory symptoms.
- To emphasize the importance of recognizing A-T in patients with recurrent respiratory infections and neurological deficits.
- To highlight the role of a multidisciplinary approach in managing A-T and its pulmonary sequelae.
Main Methods:
- Case report of a 15-year-old adolescent with A-T.
- Clinical assessment including history, physical examination, and ancillary investigations.
- Evaluation of recurrent respiratory infections, gastroesophageal reflux, and neurological symptoms.
Main Results:
- The patient presented with chronic cough, fever, dysphagia, and malnutrition.
- Diagnosed with A-T, showing cerebellar ataxia, oculomotor apraxia, and telangiectasias.
- Bronchiectasis identified as a secondary complication of neurological and immune dysfunction.
Conclusions:
- A-T diagnosis can be challenging in pediatric patients with chronic respiratory symptoms.
- Early recognition of A-T is crucial for timely intervention and management.
- A multidisciplinary approach is vital for addressing A-T and its pulmonary complications effectively.
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