The neuroimaging findings in Sotos syndrome

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.

Sotos syndrome (cerebral gigantism): analysis of 8 cases

“…Our patients did not have migrational abnormalities as described by Schaefer et al 7 but we also observed that all the patients with Sotos syndrome had abnormal MRI scans (Fig 3) and we concluded, in agreement with Schaefer et al 7 , that the neuroimaging findings in Sotos syndrome are very distinctive and that MRI studies can aid in the confirmation of diagnosis 7,23 .…”

“…The neuroimaging changes of Sotos syndrome appear to be at least compatible with the proposition that the brain development, particularly in the midline, is delayed and/or disturbed and the enlarged CSF spaces and cerebral ventricles in these patients suggests that these children have normal size of brain inside a large head 7 .…”

“…Early developmental delay and an advanced bone age were seen in 100% and 84% of cases, respectively. Like this, the authors suggested that facial gestalt (Fig 1), growth pattern (Fig 2), bone age and developmental delay are the major diagnostic criteria 7 .…”

“…The neuroimaging of the eight patients was performed by magnetic resonance imaging (MRI) scans, which were visually inspected by two of the authors (ACS and JDVC), and the identified anomalies were tabulated. The neuroimaging findings were grouped into categories similar to those Schaefer et al 7 . The criteria for ventriculomegaly was a lateral ventricular ratio larger than 0.36 and was obtained by the width of the body of the lateral ventricle divided by half the greatest internal transverse diameter of the calvaria.…”

“…Seizures may occur in 30% of the cases 4 . Magnetic resonance imaging (MRI) findings consistently seen in the syndrome include prominent extra-cerebral fluid filled spaces, modest thinning of the corpus callosum, enlarged ventricles, particularly in the trigone region, and a persistence cavum septi pellucidi and cavum vergae 7 .…”