title: Agenesis of the Corpus Callosum and Aicardi Syndrome: A Neuroimaging and Clinical Comparison.
abstract: Agenesis of the corpus callosum can occur in individuals with epilepsy, either in isolation or as part of various neurological conditions, such as Aicardi syndrome. In this study, we evaluated the clinical and neuroradiological differences between children with nonsyndromic agenesis of the corpus callosum and those with Aicardi syndrome.
  
  
  
  We evaluated 31 children with epilepsy and agenesis of the corpus callosum (11 males, 20 females), 14 of whom had Aicardi syndrome (all females). We compared their clinical evaluations, radiological and electrophysiological findings, treatments, and their outcome.
  
  
  
  Median age at seizure onset was lower in the Aicardi syndrome group compared with nonsyndromic agenesis of the corpus callosum (two versus five months, P = 0.006). The developmental impairment in terms of verbalization and ambulation was significantly worse in patients with Aicardi syndrome. The severity of magnetic resonance imaging (MRI) and glucose metabolism positron emission tomography (PET) involvement was more extensive in children with Aicardi syndrome than in nonsyndromic agenesis of the corpus callosum. In both groups, the PET scan showed a much more extensive area of involvement than suggested by the MRI scan. Four children underwent epilepsy surgery with significant improvement, but were not seizure free. Outcome was worse in those with PET showing abnormalities in the nonsurgical hemisphere despite normal appearance on MRI. All children who did not undergo surgery also continued to have seizures at last follow-up.
  
  
  
  Children with Aicardi syndrome have earlier seizure onset, worse developmental outcome, and larger areas of brain abnormalities on neuroimaging compared with nonsyndromic agenesis of the corpus callosum patients. PET reveals larger area of abnormalities, compared with MRI. Although epilepsy surgery in agenesis of the corpus callosum may offer some palliative benefit in seizure frequency, none of our patients became seizure free.
authors.affiliation: PET Center, Children's Hospital of Michigan, Detroit Medical Center, Detroit, Michigan.
authors.forename: T
authors.initials: T
authors.lastname: Govil-Dalela
authors.affiliation: PET Center, Children's Hospital of Michigan, Detroit Medical Center, Detroit, Michigan; Department of Pediatrics, Wayne State University School of Medicine, Children's Hospital of Michigan, Detroit Medical Center, Detroit, Michigan; Department of Neurology, Wayne State University School of Medicine, Children's Hospital of Michigan, Detroit Medical Center, Detroit, Michigan; Department of Radiology, Wayne State University School of Medicine, Children's Hospital of Michigan, Detroit Medical Center, Detroit, Michigan. Electronic address: ajaykumar@med.wayne.edu.
authors.forename: A
authors.initials: A
authors.lastname: Kumar
authors.affiliation: Department of Pediatrics, Wayne State University School of Medicine, Children's Hospital of Michigan, Detroit Medical Center, Detroit, Michigan; Department of Neurology, Wayne State University School of Medicine, Children's Hospital of Michigan, Detroit Medical Center, Detroit, Michigan.
authors.forename: R
authors.initials: R
authors.lastname: Agarwal
authors.affiliation: Division of Pediatric Neurology, Nemours Alfred I. duPont Hospital for Children, Wilmington, Delaware; Department of Neurology, Thomas Jefferson University School of Medicine, Philadelphia, Pennsylvania; Department of Pediatrics, Thomas Jefferson University School of Medicine, Philadelphia, Pennsylvania.
authors.forename: H T
authors.initials: HT
authors.lastname: Chugani
mesh_terms: D017668:Age of Onset; D061085:Agenesis of Corpus Callosum / Q000000981:diagnostic imaging* / Q000503:physiopathology* / Q000601:surgery; D058540:Aicardi Syndrome / Q000000981:diagnostic imaging* / Q000503:physiopathology* / Q000601:surgery; D001921:Brain / Q000000981:diagnostic imaging / Q000503:physiopathology / Q000601:surgery; D002675:Child, Preschool; D004569:Electroencephalography; D004827:Epilepsy / Q000000981:diagnostic imaging* / Q000503:physiopathology* / Q000601:surgery; D005260:Female; D005500:Follow-Up Studies; D005947:Glucose / Q000378:metabolism; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D008297:Male; D059906:Neuroimaging; D049268:Positron-Emission Tomography; D012189:Retrospective Studies; D012640:Seizures / Q000000981:diagnostic imaging / Q000503:physiopathology / Q000601:surgery
chemical_list: D005947:Glucose
keywords: Aicardi syndrome; agenesis of corpus callosum; epilepsy; positron emission tomography