A newborn girl has a large, sharply-demarcated vascular birthmark on the left side of the face that is flat, port-wine colored (does not blanch fully), and follows the distribution of the trigeminal nerve. She subsequently develops seizures and glaucoma. This condition is:
- A Klippel-Trénaunay syndrome
- B Sturge-Weber syndrome ✓
- C Von Hippel-Lindau disease
- D Hereditary hemorrhagic telangiectasia
Correct answer: B. Sturge-Weber syndrome
Explanation
Sturge-Weber syndrome is a non-hereditary neurocutaneous disorder caused by a somatic GNAQ mutation. It is characterized by facial port-wine stain (capillary vascular malformation) in the distribution of the ophthalmic (V1) branch of the trigeminal nerve, ipsilateral leptomeningeal angioma, epilepsy, progressive hemiplegia, intellectual disability, and glaucoma (due to episcleral venous engorgement). Klippel-Trénaunay syndrome involves limb port-wine stain with limb hypertrophy and varicosities.
Reference: Ghai Essential Pediatrics, 10th ed.
High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP
Written and medically reviewed by the StethoPrep medical team.