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Primary ciliary dyskinesia — RACP Paediatrics MCQ

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HardRespiratoryPrimary ciliary dyskinesiaRACP Paediatrics

A 7-year-old has year-round wet cough, recurrent otitis media and chronic nasal congestion from infancy. He was admitted as a neonate with unexplained respiratory distress, and examination now shows dextrocardia. Sweat chloride is normal. What is the most likely diagnosis?

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Correct answer: E — Primary ciliary dyskinesia

Primary ciliary dyskinesia is suggested by neonatal respiratory distress, chronic upper and lower airway disease, otitis media and situs abnormality. A normal sweat test makes cystic fibrosis less likely, although it does not explain situs inversus. Chronic wet cough from infancy should trigger evaluation for suppurative lung disease causes.

Reference: RACP Knowledge Guides; Australian paediatric respiratory guidance