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Rett Syndrome — RACP Paediatrics MCQ

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ModerateNeurology & DevelopmentRett SyndromeRACP Paediatrics

A 3-year-old girl presents with regression of previously acquired skills including loss of hand use, development of hand-wringing stereotypies, loss of speech, and social withdrawal. She was developing normally until 12 months of age. What is the most likely diagnosis?

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Correct answer: E — Rett syndrome

Rett syndrome (MECP2 mutation) presents almost exclusively in girls with a period of normal development followed by regression (usually 6–18 months), loss of purposeful hand use replaced by stereotypic hand movements (wringing/washing), loss of speech, social withdrawal, and later development of gait abnormalities and breathing irregularities. Genetic testing for MECP2 confirms diagnosis.

Reference: RCH Melbourne – 2024 – Clinical Practice Guidelines: Rett Syndrome