Sturge-Weber Syndrome

Sturge Weber Syndrome

1. Ade Wijaya , MD – November 2020 Sturge -Weber Syndrome

2. Introduction Higueros , E., Roe, E., Granell , E., & Baselga , E. (2017). Sturge -Weber syndrome: a review. Actas Dermo-Sifiliográficas (English Edition) , 108 (5), 407-417.

3. Introduction 1 per 20000-50000 live births May result from failure of the primitive cephalic venous plexus to regress GNAQ gene Sudarsanam A, Ardern -Holmes S. Sturge -Weber syndrome: From the past to the present. EJPN.2013;18:258- --326. Cerisola A, Pomi F, Bianchi M, Delucchi G, Scavone C, RubioI . Síndrome de Sturge -Weber sinangiomafacial : presentación de uncaso línico consuevo lución clínica e image nológica . Arch Pediatr Urug.2008;79:144- --9. Shirley M, Tang H, Gallione C, Baugher J, Frelin L, Cohen B, et al. Sturge -Weber syndrome and port-wine stains caused by somatic mutation in GNAQ. NEnglMed.2013;368:1971- --9

4. Classification Classical Type: Facial capillary malformation (PWS) + glaucoma + leptomeningeal angiomatosis Type 1 with facial PWS and leptomeningeal angiomatosis , with or without associated glaucoma, corresponding to classical SWS Type 2, which is more common, with facial PWS and no leptomeningeal involvement, with or without presence of glaucoma; Type 3,which is the least frequent form, with presence only of leptomeningeal angiomatosis Paresh Z, Tinkal P, Vinay S. Diagnostic dilemma: Sturge -Weber syndrome, without facial nevus. JNeurosciRuralPract.2015;6:105- --7.

5. Higueros , E., Roe, E., Granell , E., & Baselga , E. (2017). Sturge -Weber syndrome: a review. Actas Dermo-Sifiliográficas (English Edition) , 108 (5), 407-417.

6. Neurological Manifestation Seizures (75% to 90%) Slowly progressive hemiparesis (25% to 60%) Migraine-like vascular headaches (30% to 45%), Delayed neuropsychological development (50% to 60%) Episodes similar to cerebrovascular events, with acute transient hemiplegia , visual field defects, and behavioral problems. Cerisola A, Pomi F, Bianchi M, Delucchi G, Scavone C, RubioI . Síndrome de Sturge -Weber sinangiomafacial : presentación de uncaso línico consuevo lución clínica e image nológica . Arch Pediatr Urug.2008;79:144- --9. Sudarsanam A, Ardern -Holmes S. Sturge -Weber syndrome: From the past to the present. EJPN.2013;18:258- --326.

7. Diagnosis Head X-Ray Head CT Brain MRI Perfusion images Angiography Higueros , E., Roe, E., Granell , E., & Baselga , E. (2017). Sturge -Weber syndrome: a review. Actas Dermo-Sifiliográficas (English Edition) , 108 (5), 407-417.

8. Higueros , E., Roe, E., Granell , E., & Baselga , E. (2017). Sturge -Weber syndrome: a review. Actas Dermo-Sifiliográficas (English Edition) , 108 (5), 407-417.

9. Higueros , E., Roe, E., Granell , E., & Baselga , E. (2017). Sturge -Weber syndrome: a review. Actas Dermo-Sifiliográficas (English Edition) , 108 (5), 407-417.

10. Summary Classical Type: Facial capillary malformation (PWS) + glaucoma + leptomeningeal angiomatosis GNAQ gene Seizures as most common neurological presentation

11. THANK YOU