An 8-year-old boy was the first child of non-consanguineous parents, born at term after a normal pregnancy. Family history was negative for epilepsy or other neurodevelopmental disorders.

At birth, a port-wine stain (PWS) was identified on his left forehead, extending to his eyelid and nose ( Fig. 59.1 ). Epilepsy began at 13 months of life, with clonic seizures of the upper right arm that were initially well controlled by phenobarbital and levetiracetam. After a period of sporadic seizures, he experienced a progressive increase in seizure frequency at 4 years. Seizures were mostly tonic or tonic-clonic, involving the left hemibody, with worsening during episodes of fever, infection, and sleep deprivation. Clobazam, carbamazepine, and valproate were trialed with poor efficacy and persistence of monthly seizures. At the time of presentation, the patient was nonverbal with clumsy autonomous walking, preferential left-hand usage, and autism spectrum disorder (ASD) features.

Sturge-Weber syndrome. Serial photos from birth and childhood showing port-wine stains on the left forehead, orbit, nose, and chest.

Brain MRI at 1 year of age showed abnormal leptomeningeal enhancement over the left posterior quadrant. At 6 years of age, a follow-up MRI showed interval volume loss and T2 hyperintensity of the brain parenchyma ( Fig. 59.2 ). At 10 years of age, there was progressive leptomeningeal and choroid plexus enhancement with gyriform cortical calcifications ( Fig. 59.3 ). EEG showed slowing over the left parieto-temporal-occipital region without epileptic abnormalities.

Sturge-Weber syndrome. Brain MRI, (A) axial T2 and (B) postcontrast T1 show left posterior quadrant encephalomalacia with overlying enhancement in the subarachnoid space.

Sturge-Weber syndrome. Brain MRI, (A) axial postcontrast T1 and (B) SWI and (C) head CT show left posterior quadrant atrophy with enhancement and susceptibility in the subarachnoid space ( arrows ), dilated medullary veins, hyperenhancing choroid plexus, and gyriform cortical calcifications in the occipital pole ( asterisks ).

Many neurocutaneous syndromes are associated with vascular malformations. The characteristic lesion of Sturge-­Weber syndrome (SWS) is the PWS, or nevus flammeus. This is a capillary malformation of the upper face and orbit with frequent brain involvement. A dermatologic evaluation can easily distinguish PWS at risk for SWS, in locations over the orbit and forehead. Patients lack clinical signs of high-flow vascular malformations such as warm regions, pulsatile lesions, and swelling.

Other vascular lesions of the skin include small incidental capillary malformations (nevus simplex), congenital hemangiomas, infantile hemangiomas (which can be segmental and associated with posterior fossa, hemangiomas, arterial, cardiovascular, eye, sternal and/or supraumbilical anomalies [PHACES]), arteriovenous malformations in Wyburn-Mason syndrome, and capillary/venous malformations with limb hypertrophy in Klippel-Trenaunay syndrome.