A 4-month-old infant presents with focal seizures. Examination reveals a port-wine stain in the distribution of the ophthalmic division of the trigeminal nerve on the left face. Skull radiograph shows serpentine gyriform ('tram-track') calcification in the left parieto-occipital region. The most likely diagnosis is:

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

Explanation

Sturge-Weber syndrome combines a facial port-wine nevus in the V1 territory with leptomeningeal venous angiomatosis. Chronic venous stasis causes cortical hypoxia, neuronal loss and the pathognomonic gyriform tram-track cortical calcification, usually parieto-occipital and unilateral. Tuberous sclerosis produces discrete calcified subependymal nodules along the ventricular margin, not gyriform cortical calcification.

Reference: Nelson Textbook of Pediatrics, 21st ed.

High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP

Written and medically reviewed by the StethoPrep medical team.