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Ataxia telangiectasia — RACP Paediatrics MCQ

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HardNeurologyAtaxia telangiectasiaRACP Paediatrics

A 5-year-old presents with progressive cerebellar ataxia, oculomotor apraxia, and recurrent sinopulmonary infections. Skin examination reveals multiple telangiectasias on the conjunctivae and ears. Serum alpha-fetoprotein is markedly elevated. IgA is low. What is the most likely diagnosis?

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Correct answer: C — Ataxia telangiectasia

Ataxia telangiectasia (ATM gene mutation, autosomal recessive) presents with progressive cerebellar ataxia beginning in early childhood, oculocutaneous telangiectasias, immunodeficiency (especially IgA deficiency), elevated alpha-fetoprotein, and increased cancer susceptibility (lymphoma, leukaemia). Radiation sensitivity is important to recognise to avoid CT scans where possible.

Reference: RACP Paediatric Curriculum – Neurology/Immunology; RCH Melbourne – 2023 – Ataxia CPG