A 2-year-old boy with a congenital port-wine stain over the left forehead and upper eyelid has developed focal seizures contralateral to the birthmark. CT of the head shows gyriform cortical calcification of the left parieto-occipital region. Which additional complication requires routine surveillance?
- A Unilateral sensorineural deafness
- B Glaucoma of the ipsilateral eye ✓
- C Renal artery stenosis
- D Medulloblastoma
Correct answer: B. Glaucoma of the ipsilateral eye
Explanation
Sturge-Weber syndrome is a sporadic neurocutaneous disorder caused by somatic GNAQ mutation, featuring a facial port-wine stain in the ophthalmic (V1) distribution, ipsilateral leptomeningeal angiomatosis with gyriform tram-track calcification, and seizures. Glaucoma occurs in about half of patients and may be present at birth or develop later, so lifelong tonometry surveillance is mandatory. Hearing loss, renal artery stenosis, and medulloblastoma belong to other syndromes and are not part of this entity.
Reference: Nelson Textbook of Pediatrics, 21st ed.
High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP
Written and medically reviewed by the StethoPrep medical team.