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From the Kennedy Krieger Institute (Drs. Naidu and Reiss), and the Departments of Psychiatry (Drs. Subramaniam and Reiss), Pediatrics (Dr. Reiss), and Neurology (Dr. Naidu), The Johns Hopkins University School of Medicine, Baltimore, MD 21205.
Supported by grants HD24448, MH00142, HD07414, and HD24061 from the National Institutes of Health.
Received December 28, 1995. Accepted in final form July 12, 1996.
Address correspondence and reprint requests to Dr. Allan L. Reiss, Kennedy Krieger Institute, 707 North Broadway, Room 509, Baltimore, MD 21205.
Article 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.
NEUROLOGY 1997;48: 399-407
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