IJCM_83A: Primary Ciliary Dyskinesia in a child

Abstract

Background: PCD is rare genetic disorder with incidence of 1:10,000. We present a 10-year-boy who came with recurrent respiratory-infections with Dextrocardia and bilateral Bronchiectasis for interesting clinical presentation. Objective: PCD is rare inherited disease with mutations which impair normal cilia function, characterized by impaired muco-ciliary clearance, causing recurrent-respiratory infections leading to bronchiectasis. Treatment includes preventing and managing complications. Methodology: 10-year-old child came cough-cold since 2 days, and hurried breathing since 1 day. Child had multiple episodes of respiratory- infections which was treated with antibiotics and nebulization on OP basis. Developmental delay also noted, currently in speech domain, can speak 2-3 words. On examination, open mouth breathing and clubbing(grade 3) present. On auscultation bilateral bronchial breath sounds with coarse crepitations. Heart sounds heard louder on right side, but no murmur was heard. Chest X-ray and 2D-ECHO showed Situs-Solitus with Dextrocardia. Child required non-invasive ventilation and IV antibiotics for treatment. Child was weaned off to room air by day 4. CT Thorax done showed bronchiectatic changes in bilateral lung with volume loss of right hemithorax with mediastinal shift to right. CT Nasopharynx and OMC done for open-mouth breathing was normal, and advised steroid nasal spray for nasal blockage. Physiotherapist counselled parents about postural drainage. Genetic testing for PCD was sent, report awaited. He is on regular follow up and doing well. Results: Primary defect in PCD is structure and/or function of cilia leading to accumulation of secretions. Diagnostic criteria includes recurrent chest infections, bronchitis, and rhinitis, with situs-inversus, infertility, decreased mucociliary clearance and cilia showing ultrastructural defect on electron microscopy. We suspected PCD with clinical features and imaging studies. Conclusion: Patients are frequently troubled by repeated infections for which they need to seek medical attention which is reason for morbidity. As there is no specific treatment, early diagnosis and prevention of complication is key to management.

Keywords

• primary ciliary dyskinesia
• dextrocardia
• bronchiectasis