title: Sturge-Weber Syndrome: Brain Magnetic Resonance Imaging and Neuropathology Findings.
abstract: We describe the brain magnetic resonance imaging (MRI) abnormalities and neuropathologic findings of patients with Sturge-Weber syndrome and medically refractory epilepsy.
  
  
  
  We reviewed the clinical features, preoperative MRI studies, and pathologic findings of all patients with Sturge-Weber syndrome who underwent excisional surgery for intractable epilepsy at Boston Children's Hospital between 1993 and 2011.
  
  
  
  Eleven patients (male/female = 4/7) with Sturge-Weber syndrome were identified who underwent surgery for intractable epilepsy (mean age 13 ± 6.2 months), including hemispherectomy (n = 10) and focal cortical resection (n = 1). Mean age at seizure onset was 15 ± 11 weeks. Fifty-five percent (n = 6) of patients exhibited two different types of seizures, and 18% (n = 2) had three types of seizures. Focal clonic seizures were the most common type, occurring in nine patients; apnea was the second most common, occurring in four patients. Brain MRIs were reviewed in five patients. Histopathologic examination revealed varied degrees of cortical morphologic anomaly in seven of 11 patients. Overall, there were no abnormalities in the MRIs that corresponded directly with the pathologic findings except in one patient with polymicrogyria.
  
  
  
  In spite of pathologic findings of cortical anomalies in varied degrees, these findings could not be readily detected on brain MRIs. The failure to detect focal cortical dysplasia on MRIs may be attributable to the subtle microscopic nature of the abnormalities; in some of the older individuals, the imaging studies available for review were done during an advanced stage of the disease.
authors.affiliation: Department of Neurology, Boston Children's Hospital, Boston, Massachusetts; Department of Neurology, Dartmouth Hitchcock New Hampshire, Manchester, New Hampshire. Electronic address: Anna.Pinto@childrens.harvard.edu.
authors.forename: Anna L
authors.initials: AL
authors.lastname: Pinto
authors.affiliation: Department of Pathology, Johns Hopkins University School of Medicine, Baltimore, Maryland.
authors.forename: Liam
authors.initials: L
authors.lastname: Chen
authors.affiliation: Department of Neurology, Boston Children's Hospital, Boston, Massachusetts.
authors.forename: Rachel
authors.initials: R
authors.lastname: Friedman
authors.affiliation: Department of Radiology, Boston Children's Hospital, Boston, Massachusetts.
authors.forename: Patricia E
authors.initials: PE
authors.lastname: Grant
authors.affiliation: Department of Neurology, Boston Children's Hospital, Boston, Massachusetts.
authors.forename: Annapurna
authors.initials: A
authors.lastname: Poduri
authors.affiliation: Department of Neurology, Boston Children's Hospital, Boston, Massachusetts.
authors.forename: Masanori
authors.initials: M
authors.lastname: Takeoka
authors.affiliation: Department of Radiology, Boston Children's Hospital, Boston, Massachusetts.
authors.forename: Sanjay P
authors.initials: SP
authors.lastname: Prabhu
authors.affiliation: Department of Neurology, Boston Children's Hospital, Boston, Massachusetts.
authors.forename: Mustafa
authors.initials: M
authors.lastname: Sahin
mesh_terms: D001921:Brain / Q000000981:diagnostic imaging* / Q000473:pathology* / Q000601:surgery; D002648:Child; D002675:Child, Preschool; D000069279:Drug Resistant Epilepsy / Q000000981:diagnostic imaging / Q000473:pathology / Q000503:physiopathology / Q000601:surgery; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D013341:Sturge-Weber Syndrome / Q000000981:diagnostic imaging* / Q000473:pathology* / Q000503:physiopathology / Q000601:surgery; D016896:Treatment Outcome
keywords: Sturge-Weber syndrome; cortical malformation; epilepsy; neuroimaging