Sturge - Weber Syndrome: Literature Review and Report of a Clinical Case

Abstract

In this study, a clinical case of 8-year-old male, with a history of seizures from 7 months of age associated with Sturge Weber syndrome, under treatment with oxcarbazepine and phenobarbital is presented. At 3 years of age, during his hospitalization he presented several tonic-clonic seizures, cardiorespiratory arrest, for which he began advanced CPR for two minutes. An angioresonance of the brain was performed, which reported angiomatosis in the left sigmoid sinuses and brain magnetic resonance imaging reported left temporal parietal occipital cortical atrophy associated with linear and nodular millimeter calcifications. Thanks to current research, it is known that the syndrome is caused by a mutation in the GNAQ gene, however, its etiology is not yet proven. The development of this clinical case provides important information on the onset and clinical evolution of WSS manifested with facial angioma, glaucoma and seizures at an early age.