Neuroanatomy of Rett syndrome: A volumetric imaging study

Allan L. Reiss, Faisal Faruque, Sakkubai Naidu, Michael Abrams, Terri L Beaty, R. Nick Bryan, Hugo Moser

Research output: Contribution to journalArticle

Abstract

Rett syndrome is a pediatric neurological disorder of unknown etiology defined by the presence of severe neurodevelopment decline, acquired microcephaly, dementia, abnormalities of movement, autistic behavior, and seizures in young female children. In this study, the neuroanatomy of 11 females with Rett syndrome and 15 age- and gender-matched control subjects was investigated in vivo with quantitative neuroimaging techniques. Compared to control subjects, the patients with Rett syndrome were found to have significantly reduced cerebral volume; evidence of greater loss of gray matter in comparison to white matter; regional variation in cortical gray matter, with the frontal regions showing the largest decrease; and reduced volume of the caudate nucleus and midbrain, even when taking into account general reduction in the size of the brain. In addition, there was no evidence of an ongoing degenerative process in this sample of girls with Rett syndrome. The consistency of these data with results from neuropathological investigations points to the need for continued quantitative neuroimaging studies of children with this condition. In particular, research employing serial longitudinal scans of very young children manifesting early signs of the clinical syndrome holds promise for helping to elucidate the neuropathological pathways leading to the debilitating clinical manifestations of Rett syndrome.

Original languageEnglish (US)
Pages (from-to)227-234
Number of pages8
JournalAnnals of Neurology
Volume34
Issue number2
StatePublished - Aug 1993

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Rett Syndrome
Neuroanatomy
Neuroimaging
Microcephaly
Caudate Nucleus
Mesencephalon
Nervous System Diseases
Dementia
Seizures
Pediatrics
Brain
Research

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Reiss, A. L., Faruque, F., Naidu, S., Abrams, M., Beaty, T. L., Bryan, R. N., & Moser, H. (1993). Neuroanatomy of Rett syndrome: A volumetric imaging study. Annals of Neurology, 34(2), 227-234.

Neuroanatomy of Rett syndrome : A volumetric imaging study. / Reiss, Allan L.; Faruque, Faisal; Naidu, Sakkubai; Abrams, Michael; Beaty, Terri L; Bryan, R. Nick; Moser, Hugo.

In: Annals of Neurology, Vol. 34, No. 2, 08.1993, p. 227-234.

Research output: Contribution to journalArticle

Reiss, AL, Faruque, F, Naidu, S, Abrams, M, Beaty, TL, Bryan, RN & Moser, H 1993, 'Neuroanatomy of Rett syndrome: A volumetric imaging study', Annals of Neurology, vol. 34, no. 2, pp. 227-234.
Reiss AL, Faruque F, Naidu S, Abrams M, Beaty TL, Bryan RN et al. Neuroanatomy of Rett syndrome: A volumetric imaging study. Annals of Neurology. 1993 Aug;34(2):227-234.
Reiss, Allan L. ; Faruque, Faisal ; Naidu, Sakkubai ; Abrams, Michael ; Beaty, Terri L ; Bryan, R. Nick ; Moser, Hugo. / Neuroanatomy of Rett syndrome : A volumetric imaging study. In: Annals of Neurology. 1993 ; Vol. 34, No. 2. pp. 227-234.
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