LEOPARD syndrome – Noonan variant — RACP Paediatrics MCQ

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HardGeneticsLEOPARD syndrome – Noonan variantRACP Paediatrics

A child with Noonan syndrome is noted to have multiple lentigines (dark freckle-like spots), ECG showing conduction abnormalities, and hypertrophic cardiomyopathy. What specific Noonan-related condition should be considered?

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Correct answer: D — LEOPARD syndrome

Noonan syndrome with multiple lentigines (formerly LEOPARD syndrome: Lentigines, ECG abnormalities, Ocular hypertelorism, Pulmonary stenosis, Abnormal genitalia, Retardation of growth, Deafness) is a Noonan-spectrum RASopathy with a distinct phenotype including HCM rather than PS, and widespread lentigines. It is most commonly caused by PTPN11 mutations (different mutations than classic Noonan).

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