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Sturge-Weber syndrome: Clinical features and treatment

Naim Zeka, Ramush Bejiqi, Abdurrahim Gerguri, Ragip Retkoceri, Arlinda Maloku, Aferdita Mustafa, Leonore Zogaj


Sturge-Weber syndrome (SWS) is caused by a mutation in the GNAQ gene on chromosome 9q21. It consists of facial capillary malformation (port-wine stain), brain abnormality (leptomeningeal angioma), and increased eye pressure (glaucoma). In order to look at the incidence of SWS and clinical features in our country, records of admitted children over 2000-2019 were studied and 11 cases identified.  The data from the medical records include epidemiological variables, gender, and age at the time of diagnosis, changes in the skin, central nervous system affection, and ophthalmological changes. Age at the time of diagnosis ranged from 1 to 36 months. EEG showed specific graph-elements in one or both hemispheres, with partial seizures presenting in 5 cases (63%). Ophthalmological complications were common. Cognitive problems were found in 7 cases (64 %), headache in 8 cases and hemiparesis in 4. SWS is a rare disease with an incidence of 1:51 000. About 74% of cases are associated with epilepsy. Treatment is complex because monotherapy does not produce good results. The most common ophthalmological problem (55%) includes glaucoma and choroidal hemangioma. Headache is quite common (73%), and cognitive problems in 64% of the cases. Hemiparesis was found in 34% of the cases.


Glaucoma, Port wine stain, Leptomeningeal angioma.

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Bachur, C.D., Comi, A.M., 2013. Sturge-Weber syndrome. Curr. Treat. Options Neurol., 15, 607-617.

Bodensteiner, J.B., Roach, E.S., 2010. Sturge-Weber syndrome: Introduction and overview. In: Bodensteiner, J.B., Roach, E.S., (editors). Sturge-Weber syndrome. 2nd ed. Mt. Freedom, NJ: Sturge-Weber Foundation.

Brazier, Y., 2019. What is Sturge-Weber syndrome?

Deakins, J., Terrell, J., Andrew Kemp, A., 2017. Treatment and management of glaucoma secondary to Sturge-Weber syndrome.

Gupta, S., 2017. Sturge Weber syndrome with secondary glaucoma. J. Clin. Ophthalmol. Optom., 2, 102.

Juhász, C., 2016. Predicting and preventing epilepsy in Sturge-Weber syndrome? Pediatr. Neurol. Brief., 30, 43.

Kaplan, E.H., Kossoff, E.H., Bachur, C.D., Gholston, M., Hahn, J., Widlus, M., Comi, A.M., 2015. Anticonvulsant Efficacy in Sturge-Weber syndrome. Pediatr. Neurol., 58, 31-36.

Lance, E.l., Sreenivasan, A.K., Zabel, T.A., Kossoff, E.H., Comi, A.M., 2013. Aspirin use in Sturge-Weber syndrome: side effects and clinical out-comes. J. Child Neurol., 28, 213-218.

Luchsinger, W., Salim, S., 2019. Sturge-Weber syndrome and secondary glaucoma.

Manivannan, N., Gokulanathan, S., Ahathya, R.S., Gubernath, Daniel, R., Shanmugasundaram, 2012. Sturge-Weber syndrome. J. Pharm. BioAll. Sci., 4, 349-352.

Mantelli, F., Bruscolini, A., La Cava, M., Abdolrahimzadeh, S., Lambiase, A., 2016. Ocular manifestations of Sturge-Weber syndrome: pathogenesis, diagnosis, and management. Clin. Ophthalmol., 10.

Murakami, M., Morioka, T., Suzuki, S.O., Hashiguchi, K., Amano, T., Sakata, A., 2012. Focal cortical dysplasia type lla underlying epileptogenesis in patients with epilepsy associated with Sturge-Weber syndrome. Epilepsia., 53, e184-188.

Neto, F.X.P., Junior, M.A.V., Ximenes, L.S., Jacob, C.C.S., Junior, A.G.R., Palheta, A.C.P., 2008. Clinical features of Sturge-Weber syndrome. Intl. Arch. Otorhinolaryngol., 12, 565-570.

Pérez, A.I.M., Rojas, M.L.R.F., Martín, V.P., Carral, J.D., Sáez, I.C., Rodríguez, A.D., González, V.S., 2017. Analysis of Sturge-Weber syndrome: A retrospective study of multiple associated variable. Neurología., 32, 363-370.

Raches, D., Hiscock, M., Chapieski, L., 2012. Behavioral and academic problems in children with Sturge-Weber syndrome: differences between children with and without seizures. Epilepsy Behav., 25, 457-463.

Shirley, M.D., Tang, H., Gallione, C.J., Baugher, J.D., Frelin, L.P., Cohen, B., 2013. Struge-Weber syndrome and port-wine stains caused by somatic mutation in GNAQ. N. Engl. J. Med., 368, 1971-1979.

Su, W.W., 2018. Acute primary angle-closure in Sturge-Weber syndrome. Am. J. Ophthalmol. Case Rep., 10, 101-104.

Tekin, H.G., Gökben, S., Yılmaz, S., Tekgül, H., Serdaroğlu, G., 2018. Sturge-Weber syndrome Type III. J. Pediatr. Res., 5, 103-105.

Wong, H.S., Rahman, R.A., Choo, S.Y., Yahya, N., 2012. Sturge-Weber syndrome with extreme ocular manifestation and rare association of upper airway angioma with anticipates difficult airway. Med. J. Malaysia, 67, 435.

Yuen, N.S., Wong, I.Y., 2012. Congenital glaucoma from Sturge-Weber syndrome: A modified surgical approach. Kor. J. Ophthalmol., 26, 481-484.

Zhou, C., Zhu, L., Wu, J., Fang, S., 2013. Atypical Sturge-Weber syndrome requires confirmation. Eur. J. Paediatr. Neurol., 13, 169.


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