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Sturge-Weber syndrome(SWS)

MedGen UID:
21361
Concept ID:
C0038505
Disease or Syndrome
Synonyms: Encephalofacial angiomatosis; Encephalotrigeminal angiomatosis; Fourth phacomatosis; Leptomeningeal angiomatosis; Meningeal capillary angiomatosis; STURGE-WEBER SYNDROME, SOMATIC, MOSAIC; SWS; SWS type I - Facial and leptomeningeal angiomas; SWS type II - Facial angioma alone, no CNS involvement; SWS type III - Isolated leptomeningeal angiomas
SNOMED CT: Encephalofacial hemangiomatosis (19886006); Sturge-Weber-Dimitri syndrome (19886006); Angiomatosis oculo-orbital-thalamo-encephalic syndrome (19886006); Encephalocutaneous angiomatosis (19886006); Neuroretinoangiomatosis (19886006); Sturge-Weber sequence (19886006); Encephalotrigeminal angiomatosis (19886006); Sturge-Kalischer-Weber syndrome (19886006); Sturge-Weber syndrome (19886006); Sturge-Weber disease (19886006)
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
Gene (location): GNAQ (9q21.2)
 
Monarch Initiative: MONDO:0008501
OMIM®: 185300
Orphanet: ORPHA3205

Definition

Sturge-Weber syndrome is characterized by an intracranial vascular anomaly, leptomeningeal angiomatosis, most often involving the occipital and posterior parietal lobes. The most common symptoms and signs are facial cutaneous vascular malformations (port-wine stains), seizures, and glaucoma. Stasis results in ischemia underlying the leptomeningeal angiomatosis, leading to calcification and laminar cortical necrosis. The clinical course is highly variable and some children experience intractable seizures, mental retardation, and recurrent stroke-like episodes (review by Thomas-Sohl et al., 2004). [from OMIM]

Additional description

From MedlinePlus Genetics
Sturge-Weber syndrome is a condition that affects the development of certain blood vessels, causing abnormalities in the brain, skin, and eyes from birth. Sturge-Weber syndrome has three major features: a red or pink birthmark called a port-wine birthmark, a brain abnormality called a leptomeningeal angioma, and increased pressure in the eye (glaucoma). These features can vary in severity and not all individuals with Sturge-Weber syndrome have all three features.

Most people with Sturge-Weber syndrome are born with a port-wine birthmark. This type of birthmark is caused by enlargement (dilatation) of small blood vessels (capillaries) near the surface of the skin. Port-wine birthmarks are typically initially flat and can vary in color from pale pink to deep purple. In people with Sturge-Weber syndrome, the port-wine birthmark is most often on the face, typically on the forehead, temple, or eyelid. The port-wine birthmark is usually only on one side of the face but can be on both sides. Over time, the skin within the port-wine birthmark can darken and thicken.

In Sturge-Weber syndrome, there is usually abnormal formation and growth of blood vessels within the two thin layers of tissue that cover the brain and spinal cord. This abnormality, which is called leptomeningeal angioma, can affect one or both sides of the brain and impair blood flow in the brain and lead to loss of brain tissue (atrophy) and deposits of calcium (calcification) in the brain below the angioma. The decrease in blood flow caused by leptomeningeal angiomas can cause stroke-like episodes in people with Sturge-Weber syndrome. These episodes often involve temporary muscle weakness on one side of the body (hemiparesis), vision abnormalities, seizures, and migraine headaches. In affected individuals, these episodes usually begin by age 2. The seizures usually involve only one side of the brain (focal seizures), during which the port-wine birthmark may darken and individuals may lose consciousness. People with Sturge-Weber syndrome have varying levels of cognitive function, from normal intelligence to intellectual disability. Some individuals have learning disabilities with problems focusing similar to attention-deficit/hyperactivity disorder (ADHD).

In individuals with Sturge-Weber syndrome, glaucoma typically develops either in infancy or early adulthood and can cause vision impairment. In some affected infants, the pressure can become so great that the eyeballs appear enlarged and bulging (buphthalmos). Individuals with Sturge-Weber syndrome can have tangles of abnormal blood vessels (hemangiomas) in various parts of the eye. When these abnormal blood vessels develop in the network of blood vessels at the back of the eye (choroid), it is called a diffuse choroidal hemangioma and occurs in about one-third of individuals with Sturge-Weber syndrome. A diffuse choroidal hemangioma can cause vision loss. When present, the eye abnormalities typically occur on the same side of the head as the port-wine birthmark.  https://medlineplus.gov/genetics/condition/sturge-weber-syndrome

Clinical features

From HPO
Arachnoid hemangiomatosis
MedGen UID:
868599
Concept ID:
C4022998
Finding
The presence of multiple hemangiomas in the arachnoid.
Seizure
MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
Intellectual disability
MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
Cerebral cortical atrophy
MedGen UID:
1646740
Concept ID:
C4551583
Disease or Syndrome
Atrophy of the cortex of the cerebrum.
Macrocephaly
MedGen UID:
745757
Concept ID:
C2243051
Finding
Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium.
Facial hemangioma
MedGen UID:
348361
Concept ID:
C1861443
Finding
Hemangioma, a benign tumor of the vascular endothelial cells, occurring in the face.
Choroidal hemangioma
MedGen UID:
83424
Concept ID:
C0346390
Neoplastic Process
The presence of multiple hemangiomas in the choroid. These are generally reddish or orange or can have increased pigmentation maiking them difficult to distinguish from choroidal melanomas.
Buphthalmos
MedGen UID:
1641795
Concept ID:
C4551507
Congenital Abnormality
Diffusely large eye (with megalocornea) associated with glaucoma.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSturge-Weber syndrome
Follow this link to review classifications for Sturge-Weber syndrome in Orphanet.

Professional guidelines

PubMed

Poliner A, Fernandez Faith E, Blieden L, Kelly KM, Metry D
Pediatr Rev 2022 Sep 1;43(9):507-516. doi: 10.1542/pir.2021-005437. PMID: 36045161
Sabeti S, Ball KL, Bhattacharya SK, Bitrian E, Blieden LS, Brandt JD, Burkhart C, Chugani HT, Falchek SJ, Jain BG, Juhasz C, Loeb JA, Luat A, Pinto A, Segal E, Salvin J, Kelly KM
Pediatr Neurol 2021 Aug;121:59-66. Epub 2021 May 6 doi: 10.1016/j.pediatrneurol.2021.04.013. PMID: 34153815Free PMC Article
Sabeti S, Ball KL, Burkhart C, Eichenfield L, Fernandez Faith E, Frieden IJ, Geronemus R, Gupta D, Krakowski AC, Levy ML, Metry D, Nelson JS, Tollefson MM, Kelly KM
JAMA Dermatol 2021 Jan 1;157(1):98-104. doi: 10.1001/jamadermatol.2020.4226. PMID: 33175124Free PMC Article

Recent clinical studies

Etiology

Yeom S, Comi AM
Stroke 2022 Dec;53(12):3769-3779. Epub 2022 Oct 20 doi: 10.1161/STROKEAHA.122.038585. PMID: 36263782
Poliner A, Fernandez Faith E, Blieden L, Kelly KM, Metry D
Pediatr Rev 2022 Sep 1;43(9):507-516. doi: 10.1542/pir.2021-005437. PMID: 36045161
Karaconji T, Zagora S, Grigg JR
Clin Exp Ophthalmol 2022 Mar;50(2):232-246. Epub 2022 Jan 25 doi: 10.1111/ceo.14039. PMID: 35023613
Sabeti S, Ball KL, Burkhart C, Eichenfield L, Fernandez Faith E, Frieden IJ, Geronemus R, Gupta D, Krakowski AC, Levy ML, Metry D, Nelson JS, Tollefson MM, Kelly KM
JAMA Dermatol 2021 Jan 1;157(1):98-104. doi: 10.1001/jamadermatol.2020.4226. PMID: 33175124Free PMC Article
Comi AM
Handb Clin Neurol 2015;132:157-68. doi: 10.1016/B978-0-444-62702-5.00011-1. PMID: 26564078

Diagnosis

Yeom S, Comi AM
Stroke 2022 Dec;53(12):3769-3779. Epub 2022 Oct 20 doi: 10.1161/STROKEAHA.122.038585. PMID: 36263782
Poliner A, Fernandez Faith E, Blieden L, Kelly KM, Metry D
Pediatr Rev 2022 Sep 1;43(9):507-516. doi: 10.1542/pir.2021-005437. PMID: 36045161
Karaconji T, Zagora S, Grigg JR
Clin Exp Ophthalmol 2022 Mar;50(2):232-246. Epub 2022 Jan 25 doi: 10.1111/ceo.14039. PMID: 35023613
Higueros E, Roe E, Granell E, Baselga E
Actas Dermosifiliogr 2017 Jun;108(5):407-417. Epub 2017 Jan 23 doi: 10.1016/j.ad.2016.09.022. PMID: 28126187
Comi AM
Handb Clin Neurol 2015;132:157-68. doi: 10.1016/B978-0-444-62702-5.00011-1. PMID: 26564078

Therapy

Smegal LF, Vedmurthy P, Ryan M, Eagen M, Andrejow NW, Sweeney K, Reidy TG, Yeom S, Lin DD, Suskauer SJ, Kalb LG, Salpekar JA, Zabel TA, Comi AM
Pediatr Neurol 2023 Feb;139:24-34. Epub 2022 Nov 12 doi: 10.1016/j.pediatrneurol.2022.10.014. PMID: 36508880
Sebold AJ, Day AM, Ewen J, Adamek J, Byars A, Cohen B, Kossoff EH, Mizuno T, Ryan M, Sievers J, Smegal L, Suskauer SJ, Thomas C, Vinks A, Zabel TA, Hammill AM, Comi AM
Pediatr Neurol 2021 Feb;115:29-40. Epub 2020 Nov 2 doi: 10.1016/j.pediatrneurol.2020.10.013. PMID: 33316689Free PMC Article
Sabeti S, Ball KL, Burkhart C, Eichenfield L, Fernandez Faith E, Frieden IJ, Geronemus R, Gupta D, Krakowski AC, Levy ML, Metry D, Nelson JS, Tollefson MM, Kelly KM
JAMA Dermatol 2021 Jan 1;157(1):98-104. doi: 10.1001/jamadermatol.2020.4226. PMID: 33175124Free PMC Article
Zallmann M, Leventer RJ, Mackay MT, Ditchfield M, Bekhor PS, Su JC
Pediatr Dermatol 2018 Jan;35(1):30-42. Epub 2017 Oct 16 doi: 10.1111/pde.13304. PMID: 29034507
Higueros E, Roe E, Granell E, Baselga E
Actas Dermosifiliogr 2017 Jun;108(5):407-417. Epub 2017 Jan 23 doi: 10.1016/j.ad.2016.09.022. PMID: 28126187

Prognosis

Vellieux G, Frazzini V, Pichit P, Dupont S, Gourfinkel-An I, Navarro V
J Neurol 2022 Sep;269(9):4872-4883. Epub 2022 May 5 doi: 10.1007/s00415-022-11132-9. PMID: 35508811
Luat AF, Juhász C, Loeb JA, Chugani HT, Falchek SJ, Jain B, Greene-Roethke C, Amlie-Lefond C, Ball KL, Davis A, Pinto A
Pediatr Neurol 2019 Sep;98:31-38. Epub 2019 Jun 6 doi: 10.1016/j.pediatrneurol.2019.05.013. PMID: 31272784
Higueros E, Roe E, Granell E, Baselga E
Actas Dermosifiliogr 2017 Jun;108(5):407-417. Epub 2017 Jan 23 doi: 10.1016/j.ad.2016.09.022. PMID: 28126187
Sudarsanam A, Ardern-Holmes SL
Eur J Paediatr Neurol 2014 May;18(3):257-66. Epub 2013 Nov 7 doi: 10.1016/j.ejpn.2013.10.003. PMID: 24275166
Nabbout R, Juhász C
Handb Clin Neurol 2013;111:315-21. doi: 10.1016/B978-0-444-52891-9.00037-3. PMID: 23622182

Clinical prediction guides

Mozaffari K, Krishnakumar A, Chen JS, Goel K, Wang A, Shlobin NA, Weil AG, Fallah A
Seizure 2023 Apr;107:43-51. Epub 2023 Mar 15 doi: 10.1016/j.seizure.2023.03.008. PMID: 36958063
Smegal LF, Vedmurthy P, Ryan M, Eagen M, Andrejow NW, Sweeney K, Reidy TG, Yeom S, Lin DD, Suskauer SJ, Kalb LG, Salpekar JA, Zabel TA, Comi AM
Pediatr Neurol 2023 Feb;139:24-34. Epub 2022 Nov 12 doi: 10.1016/j.pediatrneurol.2022.10.014. PMID: 36508880
Sebold AJ, Day AM, Ewen J, Adamek J, Byars A, Cohen B, Kossoff EH, Mizuno T, Ryan M, Sievers J, Smegal L, Suskauer SJ, Thomas C, Vinks A, Zabel TA, Hammill AM, Comi AM
Pediatr Neurol 2021 Feb;115:29-40. Epub 2020 Nov 2 doi: 10.1016/j.pediatrneurol.2020.10.013. PMID: 33316689Free PMC Article
De la Torre AJ, Luat AF, Juhász C, Ho ML, Argersinger DP, Cavuoto KM, Enriquez-Algeciras M, Tikkanen S, North P, Burkhart CN, Chugani HT, Ball KL, Pinto AL, Loeb JA
Pediatr Neurol 2018 Jul;84:11-20. Epub 2018 Apr 18 doi: 10.1016/j.pediatrneurol.2018.04.005. PMID: 29803545Free PMC Article
Mischel PS, Vinters HV
Neurosurg Clin N Am 1995 Jul;6(3):565-79. PMID: 7670329

Recent systematic reviews

Frank NA, Greuter L, Dill PE, Guzman R, Soleman J
Neurosurg Focus 2022 May;52(5):E4. doi: 10.3171/2022.2.FOCUS21788. PMID: 35535828
Pindrik J, Hoang N, Smith L, Halverson M, Wojnaroski M, McNally K, Gedela S, Ostendorf AP
Neurosurg Focus 2018 Sep;45(3):E3. doi: 10.3171/2018.7.FOCUS18220. PMID: 30173613
Javaid U, Ali MH, Jamal S, Butt NH
Int Ophthalmol 2018 Feb;38(1):409-416. Epub 2017 Jan 7 doi: 10.1007/s10792-016-0412-3. PMID: 28064423
Banzic I, Brankovic M, Maksimović Ž, Davidović L, Marković M, Rančić Z
Phlebology 2017 Jul;32(6):371-383. Epub 2016 Aug 9 doi: 10.1177/0268355516664212. PMID: 27511883
Koenraads Y, van Egmond-Ebbeling MB, de Boer JH, Imhof SM, Braun KP, Porro GL; SWS study group
Acta Ophthalmol 2016 Nov;94(7):638-645. Epub 2016 May 30 doi: 10.1111/aos.13074. PMID: 27238857

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