A 12-year-old boy has a port-wine stain over the left forehead and eyelid with glaucoma. Skull radiograph shows curvilinear double-contoured calcifications over the left parieto-occipital cortex. MRI shows unilateral leptomeningeal thickening and enhancement with underlying cortical atrophy. The underlying diagnosis is:

• A Sturge-Weber syndrome ✓
• B Neurofibromatosis type 1
• C Tuberous sclerosis complex
• D von Hippel-Lindau disease

Explanation

Sturge-Weber syndrome is a sporadic phacomatosis combining a facial port-wine naevus in trigeminal distribution, ipsilateral leptomeningeal angiomatosis, glaucoma, and progressive cortical atrophy with the characteristic 'tram-track' gyral calcification visible on plain radiographs and CT. Tuberous sclerosis features subependymal nodules and cortical tubers rather than pial angiomatosis, making it the closest distractor among the phacomatoses listed.

Reference: Adams and Victor's Principles of Neurology, 11th ed.

High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP

Written and medically reviewed by the StethoPrep medical team.