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Primary ciliary dyskinesia — MRCPCH FOP MCQ

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HardRespiratoryPrimary ciliary dyskinesiaMRCPCH FOP

A 9-year-old girl has daily wet cough, recurrent otitis media and chronic nasal discharge. She needed oxygen for unexplained respiratory distress as a term neonate and has dextrocardia on chest radiography. What is the most likely diagnosis?

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Correct answer: E — Primary ciliary dyskinesia

Neonatal respiratory distress in a term baby, chronic wet cough, ENT disease and situs abnormality strongly suggest primary ciliary dyskinesia. Cystic fibrosis can cause chronic cough but does not typically cause dextrocardia. Asthma should not cause persistent wet cough and recurrent ear disease from early life. The pearl is that laterality defects are a high-yield clue to ciliary dysfunction.

Reference: ERS/PCD Foundation standards; NICE CKS Bronchiectasis