Sturge-weber syndrome: Characteristics of facial port wine stain with neurological and ophthalmological deficits

Abstract

Background: Sturge-Weber Syndrome (SWS) is a neurocutaneous defect involving facial Port Wine Stain (PWS) with vascular deficits in the brain and ipsilateral eyes. Facial PWS can be the initial marker and help predict the severity of SWS. Aims and objectives: To study the association of facial PWS characteristics, neurological and ophthalmological deficits in SWS with the degree of severity. Materials and Methods: A retrospective descriptive study of patients with SWS was conducted at Dr. Sardjito Hospital between January 2010 - December 2020. Facial PWS characteristics were assessed from photographs. Assessments of neurological and ophthalmological deficits used physical and supportive examinations, including Electroencephalogram (EEG), Magnetic Resonance Imaging (MRI), and Intelligent-Quotient (IQ). Results: From 19 female patients aged 1 month to 26 years with facial PWS, seven fulfilled the inclusion criteria. “High risk” facial PWS V1 and P1 b distribution patterns were found in all patients. Most patients had neurological deficits of rare focal seizures (83%). Fine motor disorders (50%) were the most severe motoric deficits found. All patients experienced glaucoma with decreased visuality to blindness and hemianopsia. EEG epileptiform patterns, MRI showing angiomatosis and brain atrophy, and low IQ scores were recorded. Conclusions: Pathogenesis and degree of severity in SWS were related to facial PWS, neurological and ophthalmological deficits. Keywords: Sturge-weber syndrome; facial port-wine stain; neurological deficit; ophthalmological deficit; neurocutaneous disorder.