Sturge Weber Syndrome

1. A D E W I J A Y A , M D – N O V E M B E R 2 0 2 0
Sturge-Weber Syndrome

2. Introduction
Port Wine Stain
(PWS)
Leptomeningeal
Angioma
Glaucoma
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

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