Snapshot A newborn boy is born to a young mother via a normal spontaneous vaginal delivery. She had not had any prenatal care during her pregnancy. On physical exam, the newborn has a large port-wine stain on the left forehead and eyelid. He is also noted to have some shaking episodes. Concerned, the physician obtains an MRI of the head, which shows a leptomeningeal angioma. Introduction Clinical definition a congenital neurocutaneous disorder affecting small-sized blood vessels, characterized by a port-wine stain in trigeminal distribution (typically V1/V2) capillary malformation of the face also known as nevus flammeus capillary-venous malformations of the brain seizures capillary-venous malformations of the eye early-onset glaucoma from increased intra-ocular pressure also known as encephalotrigeminal angiomatosis Associated conditions ipsilateral leptomeningeal angioma causes seizures intellectual disability behavioral problems episcleral hemangioma causes increased intra-ocular pressure and early-onset glaucoma Epidemiology Demographics one of the more common neurocutaneous disorders, after neurofibromatosis and tuberous sclerosis Genetics inheritance pattern sporadic mutations GNAQ gene somatic mosaic mutation encodes for a protein involved in regulating intracellular signaling pathways Presentation Symptoms seizures intellectual disability glaucoma visual defects Physical exam unilateral port-wine stain on the head and neck corneal clouding Imaging Magnetic resonance imaging (MRI) with gadolinium indication evaluate for capillary-venous malformations findings leptomeningeal angioma episcleral hemangioma Computed tomography (CT) indication patients contraindicated to MRI or if MRI is not available findings tram-tracking sign caused by brain calcifications Differential Klippel-Trenaunay-Weber syndrome distinguishing factors associated with port-wine stains patients present with varicose veins, bone and soft tissue swelling, and different limb sizes DIAGNOSIS Making the diagnosis based on clinical presentation and imaging Treatment Medical anti-epileptics indication seizures Non-operative pulsed laser therapy indication port-wine stain Complications Neurological deficits from seizures Blindness