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. Sporadic port wine Stain Tram track calcifications Unilateral Retardation Glaucoma GNAQ gene (activating mutation) Epilepsy. Sturge-Weber Syndrome (SWS) (encephelotrigeminal angiomatosis) is a congenital, non-familial disorder caused by the GNAQ gene mutation. 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) + USMLE Mnemonics. Am J Med Genet. Sujansky E, Conradi S. Outcome of Sturge-Weber syndrome in 52 adults. 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. 51 terms. 0. Sturge-Weber syndrome: hallmark features Sturge-Weber: 1. 0 1. | Open in Read by QxMD; Day AM, McCulloch CE, Hammill AM, et al. USMLE Mnemonics. 1995; 57 (1): p.35-45. 0. Sturge-Weber syndrome: hallmark features Sturge-Weber: 1. ... USMLE step 1 - mnemonics. 10 terms. Review Topic. Specifically, patients demonstrate leptomeningeal angiomas and … 97 terms. Moises Dominguez 0 % Topic. Step 2 DDX Workup. Search. Snapshot: A 5-year-old male presents with an un provoked convulsive episode that lead to right-sided hemiparesis. 0. 0. Start studying USMLE Mnemonics 3. [2] It is characterized as a part of the neuroectodermal dysplasias, also known as phakomatoses. GNAQ gene codes for a Gq protein that is associated with G-protein coupled receptors and can activate phospholipase C. Sturge-Weber Syndrome. Seizures 2. [1] SWS was first reported by Dr. Schirmer in 1860 with later descriptions by Dr. Sturge in 1897 and Dr. Weber in 1922. Medical Mnemonics - Sturge-Weber Syndrome: Hallmark Features - Pediatrics Mnemonics - Study for your IM Boards using the Knowmedge Internal Medicine medical mnemonics. It is characterized by a … OTHER SETS BY THIS CREATOR. doi: 10.1002/ajmg.1320570110 . Sturge Weber Syndrome - STURGE. Browse. Physical and Family History Variables Associated With Neurological and Cognitive Development in Sturge-Weber Syndrome. Mnemonics. Questions. N/A. 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 N/A. 58 terms. 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. Sturge-Weber syndrome (SWS) is a neurological disorder marked by a distinctive port-wine stain on the forehead, scalp, or around the eye. 58 terms. Seizures 2. Sturge-Weber Syndrome (SWS), also known as encephalotrigeminal angiomatosis, is a congenital neuro-oculocutaneous syndrome that presents at birth. 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