Sturge-Weber Syndrome - Clinical Case Study

Sirakova K, Minkin K., Matanov Sv., Ninov K.

Abstract: Sturge-Weber syndrome (SWS) or encephelotrigeminal angiomatosis is a syndrome, characterized by local brain atrophy and calcifications in the cerebral cortex combined with ipsilateral Port Wine facial nevus in the area innervated by the nervus trigeminus. SWS is a rare syndrome having incidence of 1 in 20.000-50.000 people. It affects men and women equally. SWS is a sporadically occurring congenital malformation and the fetal cortical veins (during 4-8 gestational week) develop abnormality, i. e. they remain fetal. There is no evidence of hereditary transmission. As associated gene mutation was found in nucleotide transition in GNAQ on chromosome 9q21. The venous drainage from the superficial brain part is carried out through sinus sagitalis superior, and the deep veins through sinus cavernosus and straight sinus. Cortical veins serve as a liaison between the two vein systems that flow in an internal jugular vein.

Keywords: Sturge-Weber syndrome, epilepsy,