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Sturge-Weber Syndrome — MFDS Part 1 MCQ

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HardHuman DiseaseSturge-Weber SyndromeMFDS Part 1

A 14-year-old has a congenital unilateral red-purple capillary malformation involving the forehead and upper eyelid, focal seizures, glaucoma in the same eye and a unilateral gingival vascular lesion. Which additional finding is most characteristic of the underlying syndrome?

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Correct answer: A — An ipsilateral contrast-enhancing leptomeningeal vascular malformation

The presentation is characteristic of Sturge-Weber syndrome, a sporadic neurocutaneous capillary-venous malformation disorder. Its defining pattern comprises a facial port-wine birthmark, ipsilateral leptomeningeal vascular malformation and ocular involvement such as glaucoma; seizures commonly reflect cerebral involvement. Oral vascular lesions may be unilateral and can create a substantial haemorrhage risk if surgery traverses involved tissue. Café-au-lait macules and neurofibromas indicate neurofibromatosis type 1, while mucosal neuromas with medullary thyroid carcinoma suggest MEN2B. Bilateral parotid enlargement with exocrine dysfunction suggests Sjögren syndrome, and a photosensitive malar eruption suggests systemic lupus erythematosus. Facial birthmarks are now described by vascular territory, particularly forehead involvement, rather than as lesions following trigeminal nerve branches.

Reference: El Hachem M et al. Multidisciplinary, multicenter consensus for the care of patients affected with Sturge-Weber syndrome. Orphanet Journal of Rare Diseases. 2025;20:28. https://pubmed.ncbi.nlm.nih.gov/39389653/