title: Sturge-Weber syndrome: clinical spectrum, disease course, and outcome of 30 patients.
abstract: Sturge-Weber syndrome is a heterogeneous neurocutaneous syndrome with facial and leptomeningeal angiomas, glaucoma, seizures, stroke-like episodes, and mental retardation. The authors critically evaluated the clinical manifestations, outcome, and natural history in 30 patients with Sturge-Weber syndrome followed up from January 1985 to May 2010. Of the patients, 15 were males, age at diagnosis ranged from 1 month to 43 years. Typical port-wine stain nevus occurred in 26 (86%), it was bilateral in 2 (8%), and it was absent in 4 (4%). Nine patients had glaucoma (30%), 3 required surgery. Four had transient hemiparesis. All patients had seizures; they were well controlled in 22 (73.3%); in 8 they remained drug resistant. Three patients underwent surgery and became seizure-free. Of the 17 who had mental subnormality, 14 (82.4%) had seizure onset before 2 years. An early age at seizure onset and those with drug-resistant seizures had more severe degree of mental subnormality. Uncontrolled seizures, mental subnormality, visual handicap, and cosmetic disfiguration were the major impediments in life.
authors: Department of Neurology, Sree Chitra Tirunal Institute of Medical Sciences and Technology, Trivandrum, Kerala, India.
authors: Sujit
authors: S
authors: Jagtap
authors: G
authors: G
authors: Srinivas
authors: K J
authors: KJ
authors: Harsha
authors: Neelima
authors: N
authors: Radhakrishnan
authors: Ashalatha
authors: A
authors: Radhakrishnan
mesh_terms: D000927:Anticonvulsants / Q000627:therapeutic use; D015331:Cohort Studies; D003131:Combined Modality Therapy; D003299:Cooperative Behavior; D004351:Drug Resistance; D004827:Epilepsy / Q000175:diagnosis / Q000453:epidemiology / Q000523:psychology / Q000628:therapy; D005500:Follow-Up Studies; D005901:Glaucoma / Q000175:diagnosis / Q000453:epidemiology / Q000523:psychology / Q000628:therapy; D008607:Intellectual Disability / Q000175:diagnosis / Q000453:epidemiology / Q000523:psychology / Q000628:therapy; D033183:Interdisciplinary Communication; D008137:Longitudinal Studies; D008279:Magnetic Resonance Imaging; D008578:Meninges / Q000473:pathology; D010348:Patient Care Team; D011788:Quality of Life / Q000523:psychology; D013341:Sturge-Weber Syndrome / Q000175:diagnosis* / Q000453:epidemiology / Q000523:psychology / Q000628:therapy*; D014057:Tomography, X-Ray Computed; D016896:Treatment Outcome
chemical_list: D000927:Anticonvulsants