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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

Abstract


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.

Keywords


Glaucoma, Port wine stain, Leptomeningeal angioma.

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References


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