Endgames Picture quiz

Recurrent chest infection in a 5 year old boy

BMJ 2009; 338 doi: https://doi.org/10.1136/bmj.b945 (Published 06 May 2009) Cite this as: BMJ 2009;338:b945
  1. A M Murdoch, medical student 1,
  2. L P Thia, specialist registrar in paediatric respiratory medicine2,
  3. A Gupta, specialist registrar in paediatric respiratory medicine2,
  4. C L Hogg, consultant in paediatric respiratory medicine2
  1. 1University of Glasgow, Glasgow G12 8QQ
  2. 2Royal Brompton Hospital, London SW3 6NP
  1. Correspondence to: L Thia lthia{at}doctors.org.uk

    A boy born at 38 weeks’ gestation presented with neonatal respiratory distress requiring oxygen and was found to have dextrocardia. During the first few years of life he had persistent mucopurulent rhinitis, intermittent wet cough, and bilateral serous otitis media. He was treated with several courses of oral and intravenous antibiotics for respiratory tract infections. The chest radiograph (figure) was taken when he was 5 years old.

    Fig 1 Chest radiograph of 5 year old boy

    Questions

    • 1 Describe the abnormalities shown.

    • 2 What is the likely diagnosis?

    • 3 How else might such a patient present?

    • 4 What screening and diagnostic tests are available?

    Answers

    Short answers

    • 1 Dextrocardia, situs inversus, and patchy areas of bronchial wall thickening can be seen. The haziness in the right lower zone may indicate consolidation.

    • 2 The diagnosis is primary ciliary dyskinesia.

    • 3 Patients may present with sinusitis, bronchitis, pneumonia, and otitis media1 or with a history of neonatal respiratory distress, dextrocardia with situs inversus,2 or complex congenital heart diseases with situs ambiguus.3 Affected women may present with subfertility or ectopic pregnancy, owing to defective ciliary action in the fallopian tube; men may be infertile owing to diminished sperm motility.1

    • 4 Screening tests are measurement of nasal nitric oxide, which is consistently low in patients with primary ciliary dyskinesia,4 and the “saccharin test,” which assesses mucociliary …

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