title: Neuroanatomy in Rett syndrome: cerebral cortex and posterior fossa.
abstract: Rett syndrome (RS), a neurodevelopmental disorder of unknown etiology occurring almost exclusively in females, is characterized by autistic-like behavior, motor dysfunction, loss of language skills, dementia, and microcephaly. This study is a follow-up and extension of a previously reported neuroimaging study of patients with RS. We replicated previously reported findings with a larger patient population, and the volumetric MRI analysis was extended to include an analysis of neuroanatomy of the posterior fossa. Twenty girls with RS were compared with individually age- and gender-matched normal controls. Patients with RS showed global reduction in gray- and white-matter volumes. The prefrontal, posterior-frontal, and anterior-temporal regions showed the largest bilateral decrease in gray-matter volume, whereas white-matter volume was uniformly reduced throughout the brain. We found confirmation for the preferential reduction in caudate nucleus volume. However, we observed no preferential reduction in midbrain volume despite a preferential reduction in the midsagittal area of this region. We also present an individual case comparison between monozygotic twins discordant for RS.
authors.affiliation: Kennedy Krieger Institute, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
authors.forename: B
authors.initials: B
authors.lastname: Subramaniam
authors.forename: S
authors.initials: S
authors.lastname: Naidu
authors.forename: A L
authors.initials: AL
authors.lastname: Reiss
mesh_terms: D000293:Adolescent; D000328:Adult; D002540:Cerebral Cortex / Q000473:pathology*; D002555:Cerebrospinal Fluid; D002648:Child; D002675:Child, Preschool; D003388:Cranial Fossa, Posterior / Q000473:pathology*; D004200:Diseases in Twins; D005260:Female; D006801:Humans; D008297:Male; D015518:Rett Syndrome / Q000473:pathology*; D014430:Twins, Monozygotic