title: Sturge-Weber syndrome: Continued vigilance is needed.
abstract: Sturge-Weber syndrome (SWS) is a non-hereditary congenital disorder due to somatic mosaic mutations in the GNAQ gene. The classical presentation relates to the brain lesion (cerebral angiomatous lesion of leptomeninges, which is responsible for epileptic seizures, hemiparesis and mental retardation), skin lesion (unilateral facial nevus), ocular and oral involvement. We present a 12-year-old boy who was referred to the Division of Pediatric Neurology, King Saud University Medical City, Riyadh, Saudi Arabia with left-sided hemiparesis. Physical examination showed a port wine stain involving the right side of the face, extending to the upper thorax, and enlargement of both the right eye globe and cornea (megalocornea), indicating the presence of glaucoma. Following urgent referral to ophthalmology service, his eye condition improved dramatically post surgery. Neuroradiological investigations, including cranial computed tomography (CT) and magnetic resonance angiography (MRI) revealed the classical brain lesions of SWS, as well as right leptomeningeal choroidal angioma. Ten months later, he developed focal-onset seizures which responded to treatment. His cognition is normal with good school performance. Continued vigilance is needed to identify and manage the complications of SWS.
authors: (1) Division of Pediatric Neurology, College of Medicine and King Saud University Medical City, King Saud University , Riyadh , Saudi Arabia.
authors: Saeed
authors: S
authors: Hassan
authors: (2) Department of Pediatrics, College of Medicine and King Saud University Medical City, King Saud University , Riyadh , Saudi Arabia.
authors: Amir
authors: A
authors: Babiker
authors: (1) Division of Pediatric Neurology, College of Medicine and King Saud University Medical City, King Saud University , Riyadh , Saudi Arabia.
authors: Fahad A
authors: FA
authors: Bashiri
authors: (3) Department of Radiology, College of Medicine and King Saud University Medical City, King Saud University , Riyadh , Saudi Arabia.
authors: Hamdi H
authors: HH
authors: Hassan
authors: (4) Medicolase Dental Clinic, Restorative and Aesthetic Dentistry , Riyadh , Saudi Arabia.
authors: Maha El
authors: ME
authors: Husseini
authors: (1) Division of Pediatric Neurology, College of Medicine and King Saud University Medical City, King Saud University , Riyadh , Saudi Arabia.
authors: Mustafa A
authors: MA
authors: Salih
keywords: Cerebral angiomatosis; Cerebral calcification; Choroidal haemangioma; Dental manifestations; Dyke-Davidoff-Masson syndrome; Glaucoma; Sturge-Weber syndrome