Sturge-Weber Syndrome (SWS), also known as encephalotrigeminal angiomatosis, is a congenital neuro-oculocutaneous syndrome that presents at birth. Snapshot: A 5-year-old male presents with an un provoked convulsive episode that lead to right-sided hemiparesis. N/A. 0. [2] It is characterized as a part of the neuroectodermal dysplasias, also known as phakomatoses. Sporadic port wine Stain Tram track calcifications Unilateral Retardation Glaucoma GNAQ gene (activating mutation) Epilepsy. GNAQ gene codes for a Gq protein that is associated with G-protein coupled receptors and can activate phospholipase C. 51 terms. Medical Mnemonics - Sturge-Weber Syndrome: Hallmark Features - Pediatrics Mnemonics - Study for your IM Boards using the Knowmedge Internal Medicine medical mnemonics. Moises Dominguez 0 % Topic. Seizures 2. 58 terms. 0. OTHER SETS BY THIS CREATOR. Sturge-Weber Syndrome. USMLE Mnemonics. Review Topic. Physical and Family History Variables Associated With Neurological and Cognitive Development in Sturge-Weber Syndrome. Sujansky E, Conradi S. Outcome of Sturge-Weber syndrome in 52 adults. Browse. A genetic somatic activating mutation in the GNAQ gene during fetal development has been found to cause both port wine stains (a common congenital malformation) and the Sturge Weber Syndrome. [1] SWS was first reported by Dr. Schirmer in 1860 with later descriptions by Dr. Sturge in 1897 and Dr. Weber in 1922. Sturge-Weber syndrome: hallmark features Sturge-Weber: 1. Sturge-Weber syndrome: hallmark features Sturge-Weber: 1. | Open in Read by QxMD; Day AM, McCulloch CE, Hammill AM, et al. 58 terms. Sturge Weber syndrome, sometimes called encephalotrigeminal angiomatosis, is a rare congenital neurocutaneous disorder characterized by proliferation of arteries in the brain resulting in multiple angiomas. 97 terms. Start studying USMLE Mnemonics 3. 0. 0 1. Specifically, patients demonstrate leptomeningeal angiomas and … Sturge Weber Syndrome - STURGE. 1995; 57 (1): p.35-45. Step 2 DDX Workup. 0. Am J Med Genet. doi: 10.1002/ajmg.1320570110 . Sturge-Weber Syndrome (SWS) (encephelotrigeminal angiomatosis) is a congenital, non-familial disorder caused by the GNAQ gene mutation. PortWine stain Guthrie card: diseases identified with it "Guthrie Cards Can Help Predict Bad Metabolism": Galactosaemia Cystic fibrosis Congenital adrenal hyperplasia Hypothyroidism Phenylketonuria Biotidinase deficiency Maple syrup urine disease Croup: symptoms 3 S's: Stridor Learn vocabulary, terms, and more with flashcards, games, and other study tools. sunshinesweetheart outcomes: stork bite/salmon patch will regress by 5-6year old or persist into adulthood; strawberry hemangioma will regress by 3-6 year old; port wine stain will regress or persist but it'll be associated with the sturge-weber stuff see the mnemonic pg 513 of FA 2019) + N/A. 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