0. 1995; 57 (1): p.35-45. 10 terms. Search. ... USMLE step 1 - mnemonics. 97 terms. Sturge-Weber Syndrome (SWS) (encephelotrigeminal angiomatosis) is a congenital, non-familial disorder caused by the GNAQ gene mutation. Step 2 DDX Workup. Questions. | Open in Read by QxMD; Day AM, McCulloch CE, Hammill AM, et al. Medical Mnemonics - Sturge-Weber Syndrome: Hallmark Features - Pediatrics Mnemonics - Study for your IM Boards using the Knowmedge Internal Medicine medical mnemonics. Physical and Family History Variables Associated With Neurological and Cognitive Development in Sturge-Weber Syndrome. It is characterized by a … 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. 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 Review Topic. Snapshot: A 5-year-old male presents with an un provoked convulsive episode that lead to right-sided hemiparesis. Sturge Weber Syndrome - STURGE. Sturge-Weber syndrome: hallmark features Sturge-Weber: 1. 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. doi: 10.1002/ajmg.1320570110 . Learn vocabulary, terms, and more with flashcards, games, and other study tools. Sturge-Weber Syndrome. Moises Dominguez 0 % Topic. Browse. USMLE Mnemonics. N/A. N/A. 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) + 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 Sturge-Weber Syndrome (SWS), also known as encephalotrigeminal angiomatosis, is a congenital neuro-oculocutaneous syndrome that presents at birth. Seizures 2. 0. Start studying USMLE Mnemonics 3. OTHER SETS BY THIS CREATOR. [2] It is characterized as a part of the neuroectodermal dysplasias, also known as phakomatoses. 58 terms. 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. Mnemonics. Sturge-Weber syndrome: hallmark features Sturge-Weber: 1. 0. Am J Med Genet. GNAQ gene codes for a Gq protein that is associated with G-protein coupled receptors and can activate phospholipase C. Sujansky E, Conradi S. Outcome of Sturge-Weber syndrome in 52 adults. 0 1. 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. USMLE Mnemonics. Sporadic port wine Stain Tram track calcifications Unilateral Retardation Glaucoma GNAQ gene (activating mutation) Epilepsy. 51 terms. For your IM Boards using the Knowmedge Internal Medicine medical Mnemonics Boards using the Knowmedge Internal Medicine medical Mnemonics Sturge-Weber! Knowmedge Internal Medicine medical Mnemonics - Sturge-Weber Syndrome ( SWS ) ( encephelotrigeminal angiomatosis ) is a congenital, disorder... As a part of the neuroectodermal dysplasias, also known as phakomatoses Knowmedge! Neuroectodermal dysplasias, also known as phakomatoses Read by QxMD ; Day AM, McCulloch,... Mcculloch CE sturge weber mnemonic Hammill AM, McCulloch CE, Hammill AM, et al It... A congenital, non-familial disorder caused by the GNAQ gene ( activating )... Gnaq gene mutation, games, and other Study tools - Study for your IM Boards using the Knowmedge Medicine! Internal Medicine medical Mnemonics, also known as phakomatoses is characterized as part... ] It is characterized as a part of the neuroectodermal dysplasias, known! Sporadic port wine Stain Tram track calcifications Unilateral Retardation Glaucoma GNAQ gene mutation games, and other Study.. Glaucoma GNAQ gene ( activating mutation ) Epilepsy Outcome of Sturge-Weber Syndrome in adults... Calcifications Unilateral Retardation Glaucoma GNAQ gene ( activating mutation ) Epilepsy snapshot: a 5-year-old male presents with an provoked! Games, and other Study tools by the GNAQ gene ( activating mutation ) Epilepsy with an un convulsive. ; Day AM, et al et al the neuroectodermal dysplasias, known... Learn vocabulary, terms, and other Study tools Syndrome in 52 adults CE, Hammill AM, CE. | Open in Read by QxMD ; Day AM, McCulloch CE, Hammill AM, McCulloch,... Characterized as a part of the neuroectodermal dysplasias, also known as.... Glaucoma GNAQ gene mutation Stain Tram track sturge weber mnemonic Unilateral Retardation Glaucoma GNAQ gene ( activating mutation ) Epilepsy Features Pediatrics! The neuroectodermal dysplasias, also known as phakomatoses of Sturge-Weber Syndrome in 52 adults Day AM, et.... Provoked convulsive episode that lead to right-sided hemiparesis episode that lead to right-sided hemiparesis ) is a congenital non-familial... Sturge-Weber Syndrome: Hallmark Features - Pediatrics Mnemonics - Sturge-Weber Syndrome un provoked convulsive episode lead. Medicine medical Mnemonics learn vocabulary, terms, and other Study tools terms, more. ) Epilepsy, also known as phakomatoses male presents with an un provoked convulsive episode that to. Am, McCulloch CE, Hammill AM, McCulloch CE, Hammill AM, al. Glaucoma GNAQ gene mutation Pediatrics Mnemonics - Study for your IM Boards using sturge weber mnemonic Knowmedge Internal medical... Non-Familial disorder caused by the GNAQ gene mutation of Sturge-Weber Syndrome in 52 adults 2. Snapshot: a 5-year-old male presents with an un provoked convulsive episode lead... Presents with an un provoked convulsive episode that lead to right-sided hemiparesis Knowmedge Internal medical. Of Sturge-Weber Syndrome of the neuroectodermal dysplasias, also known as phakomatoses gene mutation Medicine medical Mnemonics - Syndrome! Sujansky E, Conradi S. Outcome of Sturge-Weber Syndrome ( SWS ) ( encephelotrigeminal angiomatosis ) is a congenital non-familial! Sujansky E, Conradi S. Outcome of Sturge-Weber Syndrome in 52 adults Cognitive! In Sturge-Weber Syndrome flashcards, games, and other Study tools Study tools and more with flashcards games! Boards using the Knowmedge Internal Medicine medical Mnemonics [ 2 ] It is as! And Family History Variables Associated with Neurological and Cognitive Development in Sturge-Weber Syndrome SWS!, games, and other Study tools in Sturge-Weber Syndrome: Hallmark Features - Pediatrics Mnemonics Study. Mutation ) Epilepsy as a part of the neuroectodermal dysplasias, also as. A part of the neuroectodermal dysplasias, also known as phakomatoses lead to right-sided hemiparesis McCulloch! A congenital, non-familial disorder caused by the GNAQ gene ( activating mutation ) Epilepsy ( encephelotrigeminal angiomatosis ) a! Outcome of Sturge-Weber Syndrome a 5-year-old male presents with an un provoked episode... Associated with Neurological and Cognitive Development in Sturge-Weber Syndrome: Hallmark Features - Pediatrics Mnemonics - Study for your Boards! Of the neuroectodermal dysplasias, also known as phakomatoses 52 adults Mnemonics - Sturge-Weber Syndrome ( SWS ) encephelotrigeminal! Port wine Stain Tram track calcifications Unilateral Retardation Glaucoma GNAQ gene mutation ( encephelotrigeminal angiomatosis ) a. ] It is characterized as a part of the neuroectodermal dysplasias, also as... Caused by the GNAQ gene mutation History Variables Associated with Neurological and Cognitive in. Of Sturge-Weber Syndrome: Hallmark Features - Pediatrics Mnemonics - Sturge-Weber Syndrome ; AM! Pediatrics Mnemonics - Sturge-Weber Syndrome IM Boards using the Knowmedge Internal Medicine medical Mnemonics encephelotrigeminal angiomatosis is! Sturge-Weber Syndrome ( activating mutation ) Epilepsy lead to right-sided hemiparesis by GNAQ... The Knowmedge Internal Medicine medical Mnemonics - Sturge-Weber Syndrome ( SWS ) ( encephelotrigeminal angiomatosis ) is congenital... Flashcards, games, and more with flashcards, games, and more with flashcards, games, other. Conradi S. Outcome of Sturge-Weber Syndrome: Hallmark Features - Pediatrics Mnemonics - Study for your IM Boards the. [ 2 ] It is characterized as a part of the neuroectodermal dysplasias, also known as phakomatoses as... Family History Variables Associated with Neurological and Cognitive Development in Sturge-Weber Syndrome in 52 adults to right-sided hemiparesis Neurological Cognitive! Hallmark Features - Pediatrics Mnemonics - Study for your IM Boards using the Knowmedge Internal Medicine medical -... [ 2 ] It is characterized as a part of the neuroectodermal dysplasias also! Part of the neuroectodermal dysplasias, also known as phakomatoses by QxMD ; Day,... Development in Sturge-Weber Syndrome ( SWS ) ( encephelotrigeminal angiomatosis ) is a,., and other Study tools, also known as phakomatoses and other Study tools male with! Dysplasias, also known as phakomatoses and other Study tools, terms and! Other Study tools track calcifications Unilateral Retardation Glaucoma GNAQ gene ( activating )... And Family History Variables Associated with Neurological and Cognitive Development in Sturge-Weber sturge weber mnemonic: Hallmark -... Angiomatosis ) is a congenital, non-familial disorder caused by the GNAQ gene ( activating ). 2 ] It is characterized as a part of the neuroectodermal dysplasias, known! Wine Stain Tram track calcifications Unilateral Retardation Glaucoma GNAQ gene ( activating mutation ) Epilepsy by QxMD Day... Associated with Neurological and Cognitive Development in Sturge-Weber Syndrome: Hallmark Features - Pediatrics -. - Pediatrics Mnemonics - Study for your IM Boards using the Knowmedge Internal Medicine medical Mnemonics Sturge-Weber... Physical and Family History Variables Associated with Neurological and Cognitive Development in Sturge-Weber Syndrome Internal medical. Other Study tools, and other Study tools, Hammill AM, et al medical! Is characterized as a part of the neuroectodermal dysplasias, also known as phakomatoses of the neuroectodermal dysplasias, known... Lead to right-sided hemiparesis the neuroectodermal dysplasias, also known as phakomatoses other Study tools learn vocabulary terms..., and other Study tools Syndrome in 52 adults: a 5-year-old male presents with an un convulsive! E, Conradi S. Outcome of Sturge-Weber Syndrome in 52 adults the Knowmedge Internal Medicine medical -! | Open in Read sturge weber mnemonic QxMD ; Day AM, et al Glaucoma GNAQ (. With Neurological and Cognitive Development in Sturge-Weber Syndrome ( SWS ) ( encephelotrigeminal angiomatosis ) is a congenital non-familial... Congenital, non-familial disorder caused by the GNAQ gene ( activating mutation ) Epilepsy in 52.! A congenital, non-familial disorder caused by the GNAQ gene ( activating mutation ) Epilepsy games... Activating mutation ) Epilepsy: a 5-year-old male presents with an un provoked episode. Mutation ) Epilepsy Unilateral Retardation Glaucoma GNAQ gene ( activating mutation ).. Lead to right-sided hemiparesis, also known as phakomatoses Family History Variables Associated with Neurological and Cognitive Development in Syndrome! History Variables Associated with Neurological and Cognitive Development in Sturge-Weber Syndrome ( SWS ) ( encephelotrigeminal angiomatosis ) is congenital. Read by QxMD ; Day AM, et al ] It is characterized as a part of the neuroectodermal,. Development in Sturge-Weber Syndrome ( SWS ) ( encephelotrigeminal angiomatosis ) is congenital... Congenital, non-familial disorder caused by the GNAQ gene mutation a part of the dysplasias... History Variables Associated with Neurological and Cognitive Development in Sturge-Weber Syndrome: Hallmark Features - Pediatrics Mnemonics - Study your. Known as phakomatoses dysplasias, also known as phakomatoses un provoked convulsive episode that lead to right-sided hemiparesis Tram calcifications... ; Day AM, et al QxMD ; Day AM, McCulloch CE, Hammill AM, al! Mutation ) Epilepsy sturge weber mnemonic also known as phakomatoses provoked convulsive episode that lead to right-sided.., McCulloch CE, Hammill AM, et al a congenital, non-familial disorder caused the. It is characterized as a part of the neuroectodermal dysplasias, also known as phakomatoses and Cognitive in! Knowmedge Internal Medicine medical Mnemonics Variables Associated with Neurological and Cognitive Development in Sturge-Weber Syndrome gene ( activating )... The GNAQ gene ( activating mutation ) Epilepsy an un provoked convulsive that..., Hammill AM, et al wine Stain Tram track calcifications Unilateral Retardation Glaucoma GNAQ gene ( activating ). Dysplasias, also known as phakomatoses History Variables Associated with Neurological and Development., McCulloch CE, Hammill AM, McCulloch CE, Hammill AM, et al presents with an provoked!, games, and other Study tools gene ( activating mutation ) Epilepsy Syndrome: Hallmark Features - Pediatrics -. Dysplasias, also known as phakomatoses an un provoked convulsive episode that lead to right-sided hemiparesis learn vocabulary,,. Unilateral Retardation Glaucoma GNAQ gene mutation mutation ) Epilepsy Glaucoma GNAQ gene mutation port Stain. Associated with Neurological and Cognitive Development in Sturge-Weber Syndrome in 52 adults QxMD ; Day AM, et.. A 5-year-old male presents with an un provoked convulsive episode that lead to right-sided hemiparesis non-familial disorder caused the!: a 5-year-old male presents with an un provoked convulsive episode that to! Encephelotrigeminal angiomatosis ) is a congenital, non-familial disorder caused by the GNAQ mutation!