Severe Unilateral Cystic Bronchiectasis in a Child with Down Syndrome and Prior Congenital Diaphragmatic Hernia Repair
A Case Report
Keywords:
Bronchiectasis, cystic bronchiectasis, Down syndrome, pediatric pulmonology, congenital diaphragmatic herniaAbstract
Background: Congenital bronchiectasis is a rare but serious condition in the pediatric population and may be more challenging to diagnose in children with Down syndrome due to overlapping clinical features and communication difficulties. Bronchiectasis, characterized by irreversible bronchial dilatation, is often associated with recurrent infections and may be particularly severe in children with underlying genetic conditions.
Case Presentation: We report a 12-year-old girl with Down syndrome and prior congenital diaphragmatic hernia repair who presented with a long-standing history of productive cough and recurrent lower respiratory tract infections since infancy. Physical examination revealed underweight status, digital clubbing, and inspiratory crackles predominantly in the left lower lung zone. Imaging demonstrated extensive cystic bronchiectasis with left lung volume reduction, and the patient underwent left pneumonectomy. Histopathology confirmed severe acute and chronic bronchiectasis with patchy fibrosis and superimposed acute bronchopneumonia.
Conclusion: This case highlights the rare occurrence of severe unilateral cystic bronchiectasis in children with Down syndrome and prior congenital diaphragmatic hernia repair. Early recognition and surgical intervention may be necessary in cases with extensive lung destruction
References
(1) E. A. Gaillard, H. Carty, D. Heaf, and R. L. Smyth, “Reversible bronchial dilatation in children: Comparison of serial high-resolution computer tomography scans of the lungs,” European Journal of Radiology, 2003.
(2) N. Kapur, J. P. Masel, D. Watson, I. B. Masters, and A. B. Chang, “Bronchoarterial ratio on high-resolution CT scan of the chest in children without pulmonary pathology,” Chest, 2011.
(3) A. B. Chang, A. Bush, and K. Grimwood, “Bronchiectasis in children: Diagnosis and treatment,” The Lancet, 2018.
(4) K. M. Eastham, “The need to redefine non-cystic fibrosis bronchiectasis in childhood,” Thorax, 2004.
(5) P. C. Valery et al., “Long-term azithromycin for indigenous children with non-cystic-fibrosis bronchiectasis or chronic suppurative lung disease (bronchiectasis intervention study): A multicentre, double-blind, randomised controlled trial,” The Lancet Respiratory Medicine, 2013.
(6) A. B. Chang, A. Bush, and K. Grimwood, “Bronchiectasis in children: Diagnosis and treatment,” The Lancet, 2018.
(7) S. J. Pizzutto, J. W. Upham, S. T. Yerkovich, and A. B. Chang, “High pulmonary levels of IL-6 and IL-1 in children with chronic suppurative lung disease are associated with low systemic IFN- production in response to non-typeable haemophilus influenzae,” PLOS ONE, 2015.
(8) D. F. Wurzel et al., “Protracted bacterial bronchitis in children,” Chest, 2016.
(9) G. J. Redding et al., “Respiratory exacerbations in indigenous children from two countries with non-cystic fibrosis chronic suppurative lung disease/bronchiectasis,” Chest, 2014.
(10) V. Goyal, K. Grimwood, J. Marchant, I. B. Masters, and A. B. Chang, “Does failed chronic wet cough response to antibiotics predict bronchiectasis?” Archives of Disease in Childhood, 2014.
(11) A. Elizur, C. L. Cannon, and T. W. Ferkol, “Airway inflammation in cystic fibrosis,” Chest, 2008.
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Copyright (c) 2026 Mustafa El-Ahmer، Wesam Elsaghayer، Ahmed Aniba، Eman Alabani، Fatma Kannah
This work is licensed under a Creative Commons Attribution 4.0 International License.
