Describing the Phenotypic Spectrum of Sturge Weber Syndrome in a Cohort of Children Attending the Neurology Clinic at a Tertiary Care Center
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- Category: Vol. 93, March 2025
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Describing the Phenotypic Spectrum of Sturge Weber Syndrome in a Cohort of Children Attending the Neurology Clinic at a Tertiary Care Center, DINA HESHAM M. GALAL, MARIAN YOUSRY, SALAH IBRAHIM and WESSAM EL ZAYAT
Abstract
Background: Sturge Weber syndrome (SWS) is a neurocu taneous disorder that is associated with facial capillary malfor mation (Port wine stain [PWS]), glaucoma, and leptomeningeal angioma in its complete form. Its incidence is estimated to be 1 per 20 000-50 000 live births. Aim of Study: To assess and evaluate the spectrum and var iability among patients with Sturge Weber syndrome in terms of clinical manifestations and to correlate these clinical mani festations with radiological findings including gyriform calci fications in CT brain and leptomeningeal enhancement in MRI brain with contrast. Patients and Methods: This cross-sectional survey study will be conducted on 20 cases of Sturge-Weber syndrome, a rare disease, selected based on specific inclusion criteria. The study population will be drawn from patients attending the Pediatric Neurology Outpatient Clinic at the Faculty of Med icine, Cairo University, and the Pediatric Outpatient Clinic at Souad Kafafi University Hospital, MUST University, both lo cated in Cairo, Egypt. Results: The study on Sturge-Weber syndrome (SWS) identified significant clinical and radiological findings. Skin lesions were mostly left-sided (55%), with 70% of patients also having glaucoma, strongly linked to lesion distribution (r=0.438, p=0.037). Developmental delays were common, with 50% showing motor delays and 65% mental delays. Cognitive challenges were evident, with a mean IQ of 73.5 and 40% of patients having an extremely low IQ. Leptomeningeal angio mas were present in 85% of cases, while gyriform calcifications were found in 65%, correlating with motor deficits in 70% of patients. Seizures, particularly intractable epilepsy, were prom inent in 55% of patients, necessitating complex, individualized treatment plans. EEG abnormalities were noted in 33% of pa tients, correlating with seizures and mental delay, though EEG was less effective in predicting motor and cognitive outcomes. CT and MRI showed good to moderate predictive ability for seizures and motor deficits but were less reliable for mental de lay and did not correlate with seizure intractability. These find ings highlight the importance of comprehensive assessments and personalized management in improving outcomes for SWS patients. Conclusion: Our study provides valuable insights into the clinical and radiological features of Sturge-Weber syndrome and their associations with clinical outcomes. We found signifi cant correlations between calcifications in CT and MRI findings with seizures and mental delay, highlighting the importance of these imaging modalities in predicting these outcomes. How ever, EEG findings showed limited predictive value for clinical outcomes. The presence of glaucoma was also found to be cor related with specific patterns of skin lesions. Our findings underscore the importance of comprehensive clinical and radiological assessments in the management of Sturge-Weber syndrome, and further research is warranted to validate these findings and improve our understanding of this complex condition.