The neuroimaging findings in Sotos syndrome

G. Bradley Schaefer, John B. Bodensteiner, Bruce A. Buehler, Angela Lin, Trevor R.P. Cole

Research output: Contribution to journalArticle

90 Scopus citations

Abstract

We reviewed the neuroimaging studies of 40 patients with classic Sotos syndrome. The studies consisted of CT scans only in 4 patients and one or more MRI scans in 36 patients. The diagnosis of Sotos syndrome was made using well-established clinical criteria. The neuroimaging studies of each patient were evaluated subjectively by visual inspection and the chief findings were tabulated and grouped into five categories: 1) ventricular abnormalities, 2) extracerebral fluid spaces, 3) midline abnormalities, 4) migrational abnormalities, and 5) others. The most common abnormality of the cerebral ventricles was prominence of the trigone (90%), followed by prominence of the occipital horns (75%) and ventriculomegaly (63%). The supratentorial extracerebral fluid spaces were increased for age in 70% of the patients and the fluid spaces in the posterior fossa were increased in 70% also. A variety of midline abnormalities were noted but anomalies of the corpus callosum were almost universal. Gray matter heterotopias occurred in only 3 (8%) of 36 patients. Periventricular leukomalacia, presumably the result of prenatal or perinatal difficulties and unrelated to the basic condition, was the most common of the miscellaneous other abnormalities noted. The neuroimaging findings of Sotos syndrome are distinct enough to allow differentiation of this syndrome from other mental retardation syndromes with macrocephaly.

Original languageEnglish (US)
Pages (from-to)462-465
Number of pages4
JournalAmerican journal of medical genetics
Volume68
Issue number4
DOIs
Publication statusPublished - Feb 11 1997

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Keywords

  • cavum septum pellucidum
  • cerebral gigantism
  • hypoplastic corpus callosum
  • macrocephaly
  • overgrowth syndromes
  • ventriculomegaly

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Schaefer, G. B., Bodensteiner, J. B., Buehler, B. A., Lin, A., & Cole, T. R. P. (1997). The neuroimaging findings in Sotos syndrome. American journal of medical genetics, 68(4), 462-465. https://doi.org/10.1002/(SICI)1096-8628(19970211)68:4<462::AID-AJMG18>3.0.CO;2-Q