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CCHS — RACP Paediatrics MCQ

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HardRespiratoryCCHSRACP Paediatrics

A term infant has recurrent apnoeas and cyanotic episodes during sleep from birth. Ventilatory drive is absent during sleep but adequate when awake. There is no brainstem abnormality on MRI. Genetic testing reveals a PHOX2B polyalanine expansion mutation. What is the most likely diagnosis?

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Correct answer: A — Congenital central hypoventilation

Absent ventilatory drive during sleep from birth with PHOX2B mutation is congenital central hypoventilation syndrome (CCHS, formerly Ondine's curse). Requires lifelong ventilatory support during sleep (and sometimes waking in severe cases). Associated with Hirschsprung disease and neural crest tumours. Annual screening required.

Reference: RCH Melbourne – 2023 – CCHS CPG; RACP Paediatric Curriculum – Respiratory