A child with recurrent respiratory infections and situs inversus: Kartagener’s syndrome

Résumé fourni par la source

Kartagener’s syndrome, an uncommon autosomal recessive form of primary ciliary dyskinesia, is characterized by the classical triad of situs inversus, chronic sinusitis and bronchiectasis. Impaired mucociliary clearance leads to recurrent infections; early recognition is essential to prevent progressive and irreversible airway damage. A 13-year-old girl presented with a 2-week history of fever, productive cough, nasal obstruction and purulent nasal discharge. She had a long-standing history of recurrent upper and lower respiratory tract infections since early childhood. On examination, she was febrile (101.5°F) with bilateral wheeze and coarse basal crepitations. Notably, the cardiac apex was palpated on the right side, raising suspicion of dextrocardia. Chest radiography confirmed right-sided cardiac apex and aortic arch with a right-sided gastric bubble, consistent with situs inversus (Figure 1A). Features suggestive of bronchiectasis were noted. Imaging of the paranasal sinuses demonstrated pansinusitis (Figure 1B). High-resolution computed tomography (HRCT) of the thorax revealed bilateral bronchiectasis with centrilobular nodules and mucus plugging (Figure 1C and D). Ultrasonography of the abdomen confirmed situs inversus totalis. Pulmonary function testing showed an obstructive pattern without significant bronchodilator reversibility. Electrocardiography demonstrated features consistent with dextrocardia. Nasal nitric oxide levels were markedly reduced. Sweat chloride testing was negative. Based on clinical and radiological findings, a diagnosis of Kartagener’s syndrome was made. Chest radiograph showing dextrocardia with features of situs inversus. (Panel A) Paranasal sinus radiograph demonstrating pansinusitis. (Panel B) HRCT thorax showing bronchiectasis with centrilobular nodules, ‘tree-in-bud’ pattern and mucus plugging. (Panel C and D). The patient was treated with intravenous antibiotics, bronchodilators and chest physiotherapy with postural drainage. Intranasal corticosteroids and saline irrigation were initiated for sinus disease. She improved clinically and was discharged on oral antibiotics, inhaled therapy and a structured pulmonary rehabilitation plan with follow-up. Kartagener’s syndrome results from ultrastructural defects in motile cilia, most commonly involving dynein arms, leading to impaired mucociliary clearance and recurrent respiratory infections.1 The estimated prevalence is ∼1 in 60 000, though it may be underdiagnosed due to variable clinical presentation.2 The presence of situs inversus in approximately half of affected individuals reflects abnormal embryonic nodal ciliary function and can provide an important diagnostic clue.3 Early-onset recurrent respiratory symptoms, as seen in this patient, should prompt consideration of primary ciliary dyskinesia. Radiological imaging remains central to identifying bronchiectasis and sinus disease, while low nasal nitric oxide serves as a useful non-invasive screening tool.4 Definitive diagnosis traditionally relies on electron microscopy demonstrating ciliary ultrastructural abnormalities or genetic testing identifying pathogenic mutations [e.g. DNAH5 and DNAI1].5 In resource-limited settings, diagnosis is often based on characteristic clinical and radiological findings. Management is supportive and focuses on airway clearance, prompt treatment of infections and control of upper airway disease to preserve lung function. Shankar Dey (Conceptualization [equal], Data curation [equal], Formal analysis [equal], Investigation [equal], Project administration [equal], Resources [equal], Supervision [equal], Validation [equal], Visualization [equal], Writing—original draft [equal], Writing—review & editing [equal]), Subhrajit Naskar (Conceptualization [equal], Investigation [equal], Methodology [equal], Project administration [equal], Resources [equal], Software [equal], Supervision [equal], Writing—original draft [equal], Writing—review & editing [equal]), Arghadip Das (Conceptualization [equal], Data curation [equal], Investigation [equal], Methodology [equal], Project administration [equal], Resources [equal], Software [equal], Validation [equal], Writing—review & editing [equal]), Niladri Sarkar (Conceptualization [equal], Formal analysis [equal], Investigation [equal], Project administration [equal], Resources [equal], Validation [equal], Visualization [equal], Writing—original draft [equal], Writing—review & editing [equal]), Dipanjan Chowdhury (Conceptualization [equal], Data curation [equal], Investigation [equal], Methodology [equal], Project administration [equal], Resources [equal], Software [equal], Validation [equal], Visualization [equal], Writing—original draft [equal], Writing—review & editing [equal]), Rupak Chatterjee (Conceptualization [equal], Data curation [equal], Formal analysis [equal], Investigation [equal], Methodology [equal], Project administration [equal], Resources [equal], Software [equal], Supervision [equal], Validation [equal], Visualization [equal], Writing—original draft [equal], Writing—review & editing [equal]) and Atanu Chandra (Conceptualization [equal], Data curation [equal], Formal analysis [equal], Investigation [equal], Methodology [equal], Project administration [equal], Resources [equal], Software [equal], Supervision [equal], Validation [equal], Visualization [equal], Writing—original draft [equal], Writing—review & editing [equal]) There are no competing interests for any authors. None declared. An informed written consent was obtained from the patient’s father after full explanation regarding her images being published for academic interest. He did not have any objection regarding use of the images which may reveal patient’s identity and gave due permission to use them.

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