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