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CAPS — RACP Paediatrics MCQ

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HardIDCAPSRACP Paediatrics

An infant presents with chronic urticaria-like rash from birth, episodic fever, and progressive sensorineural hearing loss. CSF shows chronic sterile meningitis. The child develops papilloedema. Genetic testing reveals an NLRP3 mutation. What is the most likely diagnosis?

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Correct answer: A — CAPS (cryopyrin-associated periodic syndrome)

Chronic urticarial rash from infancy, sensorineural hearing loss, chronic sterile meningitis, and NLRP3 mutation is consistent with CAPS (specifically the severe Muckle-Wells/CINCA/NOMID phenotype). CAPS is an IL-1-mediated autoinflammatory disease. Anti-IL-1 therapy (anakinra, canakinumab) is dramatically effective and is the standard of care.

Reference: RACP Paediatric Curriculum – Rheumatology; RCH Melbourne – 2023