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Tuberous sclerosis complex — RACP Paediatrics MCQ

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ModerateNeurologyTuberous sclerosis complexRACP Paediatrics

A 6-month-old presents with infantile spasms. Skin examination reveals multiple hypopigmented macules (ash-leaf spots) seen under Wood's lamp, and there is a shagreen patch on the lower back. Echocardiogram shows cardiac rhabdomyomas. What is the most likely diagnosis?

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Correct answer: C — Tuberous sclerosis complex

Ash-leaf spots (hypopigmented macules), shagreen patch, cardiac rhabdomyomas, and infantile spasms are classic features of tuberous sclerosis complex (TSC). TSC is caused by TSC1 or TSC2 gene mutations (autosomal dominant). Vigabatrin is the first-line treatment for infantile spasms in TSC. mTOR inhibitors (everolimus) are used for subependymal giant cell astrocytomas and renal angiomyolipomas.

Reference: RCH Melbourne – 2023 – Tuberous Sclerosis CPG; RACP Paediatric Curriculum – Neurology