Explaining a neurocutaneous syndrome — Sturge-Weber OSCE

Candidate instructions (8-minute station)

You are the paediatric registrar in the postnatal clinic. A newborn has a flat, dark-red stain covering the right forehead and upper eyelid, present from birth. The parents have read that birthmarks on the face can affect the brain and are very anxious. The stain is in the forehead and upper-eyelid territory. [1]

Your tasks are: [2]

1. Explain what the port-wine stain is and that it will not fade but grows only with the child. [1]
2. Explain why the forehead and upper-eyelid distribution raises the possibility of Sturge-Weber syndrome and what that means — a leptomeningeal angioma, the risk of seizures, and glaucoma. [2] [1]
3. Explain the plan: a contrast brain magnetic resonance image to look for the leptomeningeal angioma and an ophthalmology review for glaucoma, with ongoing neurology and developmental surveillance. [2]
4. Counsel on inheritance: the condition is caused by a somatic mosaic GNAQ mutation, is sporadic, and recurrence risk in future children is close to zero. [1] [3]
5. Safety-net the family on the seizure signs to watch for and when to seek urgent care, and explain the role of pulsed-dye laser for the stain itself. [2] [3]

Examiner prompts (if needed)

• The parent asks: will it go away on its own? (No — it is a capillary malformation present at birth that never regresses, unlike the fading salmon patch.) [1]
• The parent asks: is it inherited, and will my next child have it? (It is sporadic and mosaic; recurrence is close to zero.) [1] [3]
• The parent asks: what is the long-term outlook? (Driven by the seizure burden and stroke-like episodes; early control of seizures and glaucoma surveillance shape the developmental outcome.) [2] [3]