title: Long-term outcome in children with intractable epilepsy showing bilateral diffuse cortical glucose hypometabolism pattern on positron emission tomography.
abstract: The objective of this study is to determine the long-term outcome of children with intractable epilepsy who have diffuse cortical hypometabolism on 2-deoxy-2-((18)F)fluoro-D-glucose positron emission tomography (FDG-PET) scans. Seventeen children with intractable epilepsy showing bilateral, diffuse cortical hypometabolism on FDG-PET were followed up through telephone interview from 1 year 4 months to 11 years 4 months (mean: 5 years 7 months ± 2 years 1 month) after their PET scans. One child succumbed to Sanfilippo disease at age 20 years. Only 2 children were seizure free. Fifty percent had walking difficulties, 56.25% were not toilet trained, all had speech difficulties, 43.75% had behavioral problems, 37.5% had poor eye contact, 75% had socialization difficulties, and 87.5% attended special schools. Three children were found to have genetic causes, including a 4-MB deletion of the mitochondrial genome, MECP2 duplication, and Lafora disease. In conclusion, the long-term outcome in this patient population is poor, and they tend to suffer from genetic/neurodegenerative diseases.
authors.affiliation: Department of Pediatrics, Wayne State University School of Medicine, Detroit, MI, USA.
authors.forename: Varun
authors.initials: V
authors.lastname: Shandal
authors.forename: Amy L
authors.initials: AL
authors.lastname: Veenstra
authors.forename: Michael
authors.initials: M
authors.lastname: Behen
authors.forename: Senthil
authors.initials: S
authors.lastname: Sundaram
authors.forename: Harry
authors.initials: H
authors.lastname: Chugani
mesh_terms: D000293:Adolescent; D001931:Brain Mapping; D002540:Cerebral Cortex / Q000000981:diagnostic imaging*; D002648:Child; D002675:Child, Preschool; D002658:Developmental Disabilities / Q000000981:diagnostic imaging* / Q000209:etiology; D004569:Electroencephalography; D004827:Epilepsy / Q000473:pathology*; D005260:Female; D019788:Fluorodeoxyglucose F18; D005947:Glucose / Q000378:metabolism*; D006801:Humans; D007223:Infant; D008137:Longitudinal Studies; D008279:Magnetic Resonance Imaging; D008297:Male; D049268:Positron-Emission Tomography; D012189:Retrospective Studies
chemical_list: D019788:Fluorodeoxyglucose F18; D005947:Glucose