THE NEUROIMAGING FINDINGS IN SOTOS SYNDROME

We reviewed the neuroimaging studies of 40 patients with classic Sotos syndrome. The studies consisted of CT scans only in 4 patients and on e or more MRI scans in 36 patients, The diagnosis of Sotos syndrome wa s made using well-established clinical criteria. The neuroimaging stud ies of each patient were evaluated subjectively by visual inspection a nd the chief findings were tabulated and grouped into five categories: 1) ventricular abnormalities, 2) extracerebral fluid spaces, 3) midli ne abnormalities, 4) migrational abnormalities, and 5) others, The mos t 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 alm ost universal. Gray matter heterotopias occurred in only 3 (8%) of 36 patients. Periventricular leukomalacia, presumably the result of prena tal or perinatal difficulties and unrelated to the basic condition, wa s the most common of the miscellaneous other abnormalities noted, The neuroimaging findings of Sotos syndrome are distinct enough to allow d ifferentiation of this syndrome from other mental retardation syndrome s with macrocephaly. (C) 1997 Wiley-Liss, Inc.