Snapshot A young immigrant mother presents to your clinic with her 5-month-old child who has been having "shaking spells" at home. The baby boy has a large birth mark on the side of the face. Introduction Sturge-Weber syndrome is a rare disorder that is present at birth characterized by unilateral paralysis or weakness seizures learning disabilities Epidemiology not thought to be inherited (passed down) through families Etiology unknown Presentation Symptoms unilateral paralysis or weakness seizures learning disabilities blindness Physical exam port-wine stained nevus more common on the face than the body ipsilateral to the vascular malformation glaucoma Evaluation Diagnosis is usually made clinically Xray, CT, and MRI may be used to assess vascular malformation and identify calcifications generally do not contribute to further diagnosis Differential Klippel-Trenaunay-Weber syndrome, Beckwith-Wiedemann syndrome, Dyke-Davidoff-Masson syndrome, siderosis, calcification secondary to intrathecal methotrexate therapy and meningitis Treatment Medical anticonvulsants for seizure activity physical therapy for paralysis or weakness eye drops for glaucoma Surgical laser therapy for port-wine stain neurosurgery may be required to prevent seizure activity Prognosis, Prevention, and Comlications Prognosis range of severity depends highly on neurologic function/ability of child most cases are not life-threatening quality of life depends on how successfully the neurologic symptoms are managed Prevention no known prevention, as etiology remains unknown patients should see ophthalmologist annually for management of glaucoma patients must see neurologist to manage seizures and neurologic symptoms Complications abnormal vascular growth in the calvarium port-wine stain enlargement developmental delays and learning disabilities emotional and behavioral problems glaucoma can lead to blindness if untreated progressive, worsening paralysis seizures may worsen if unmanaged