title: High prevalence of bihemispheric structural and functional defects in Sturge-Weber syndrome.
abstract: Abnormal cerebral venous drainage is associated with hypoxia and glucose deprivation, which can account for progressive neurologic deterioration in Sturge-Weber syndrome. Although developmental delay is common in Sturge-Weber syndrome, bihemispheric calcification is uncommon. Computed tomography (CT) and magnetic resonance imaging (MRI) were used to study the neuroanatomy, while single photon emission computed tomography (SPECT) was used concurrently to evaluate perfusion and glucose metabolism using 99mTc hexamethylpropyleneamine oxime (HMPAO) and [18F] fluorodeoxyglucose (FDG), respectively. Ten patients (10 to 22 years of age) with previously diagnosed Sturge-Weber syndrome, port-wine nevi, and clinical evidence of seizures or stroke-like episodes were studied. Five children with onset of seizures in the first year of life had overall clinical severity comparable to that of children with later-onset seizures. Calcification was present in both hemispheres in one patient; six additional patients had other radiologic evidence of bihemispheric disease; SPECT studies detected bihemispheric disease in four cases. Our study is the first to concurrently evaluate structure, perfusion, and glucose metabolism in Sturge-Weber syndrome and to show a mismatch between functional and structural brain imaging in both cerebral hemispheres. Widespread abnormalities of cerebral perfusion and glucose metabolism might explain the high prevalence of developmental delay associated with Sturge-Weber syndrome. Longitudinal studies are needed to define better the natural history of neurologic deterioration and radiologic progression that relates to central nervous system circulatory dysfunction in Sturge-Weber syndrome.
authors.affiliation: Department of Pediatrics, University of Florida College of Medicine, Gainesville, USA.
authors.forename: B L
authors.initials: BL
authors.lastname: Maria
authors.forename: J A
authors.initials: JA
authors.lastname: Neufeld
authors.forename: L C
authors.initials: LC
authors.lastname: Rosainz
authors.forename: K
authors.initials: K
authors.lastname: Ben-David
authors.forename: W E
authors.initials: WE
authors.lastname: Drane
authors.forename: R G
authors.initials: RG
authors.lastname: Quisling
authors.forename: L M
authors.initials: LM
authors.lastname: Hamed
mesh_terms: D000293:Adolescent; D000328:Adult; D001921:Brain / Q000098:blood supply; D001927:Brain Diseases / Q000000981:diagnostic imaging / Q000473:pathology*; D002114:Calcinosis / Q000503:physiopathology*; D002648:Child; D005260:Female; D019788:Fluorodeoxyglucose F18; D005947:Glucose / Q000378:metabolism*; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D011859:Radiography; D019275:Radiopharmaceuticals; D012640:Seizures / Q000503:physiopathology; D013341:Sturge-Weber Syndrome / Q000150:complications / Q000503:physiopathology*; D015899:Tomography, Emission-Computed, Single-Photon
chemical_list: D019275:Radiopharmaceuticals; D019788:Fluorodeoxyglucose F18; D005947:Glucose