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Rett syndrome — RACP Paediatrics MCQ

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ModerateNeurologyRett syndromeRACP Paediatrics

A 2-year-old girl developed normally until 12 months of age, then progressively lost purposeful hand use and developed repetitive hand-wringing movements. She has also lost previously acquired speech and developed an unsteady gait and breathing irregularities. Head growth has decelerated. What is the most likely diagnosis?

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Correct answer: D — Rett syndrome

Developmental regression in a girl with loss of purposeful hand skills replaced by stereotypic hand movements (hand wringing/washing), loss of speech, gait abnormalities, and acquired microcephaly is the classic presentation of Rett syndrome (MECP2 mutation). It almost exclusively affects girls.

Reference: RACP Paediatric Curriculum – Neurology; RCH Melbourne – 2023 – Developmental Delay CPG