Spotlight on Sturge-Weber Syndrome: Unraveling the Enigma of a Rare Neurocutaneous Disorder in Infants-An Overview

Abstract

This article aims to provide a concise overview of the existing literature on Sturge-Weber syndrome in infants. This comprehensive review presents key information regarding the prevalence, clinical characteristics, diagnostic methods, and available treatments based on recent global research. Sturge-Weber syndrome is a rare congenital neurocutaneous disorder, affecting approximately 1 in 20,000 to 50,000 new-born, and is caused by a somatic mutation in the GNAQ gene. Its defining features include leptomeningeal angiomatosis, glaucoma, and a facial birthmark known as a port-wine stain. Seizures are the most common neurological symptom, typically appearing within the first few months of life. Glaucoma can either manifest at birth or emerge during later stages of life. The severity of symptoms associated with Sturge-Weber syndrome can vary. Common treatments include anticonvulsants, laser therapy for the port-wine stain, and medication and surgery for glaucoma. This article also discusses potential causes, contributing factors, and possible solutions for Sturge-Weber syndrome.