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