The neuroimaging findings in Sotos syndrome

Am J Med Genet. 1997 Feb 11;68(4):462-5. doi: 10.1002/(sici)1096-8628(19970211)68:4<462::aid-ajmg18>;2-q.


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.

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Abnormalities, Multiple / pathology*
  • Brain / pathology*
  • Cerebral Ventricles / abnormalities
  • Cerebral Ventricles / pathology
  • Corpus Callosum / pathology
  • Growth Disorders / diagnosis
  • Growth Disorders / genetics
  • Head / abnormalities
  • Humans
  • Intellectual Disability / genetics
  • Magnetic Resonance Imaging
  • Syndrome