Sotos syndrome (cerebral gigantism): a clinical and radiological study of 14 cases from Saudi Arabia

Fourteen children (of Arab ethnic origin) with Sotos syndrome are described . They were referred to King Khalid University Hospital, Riyadh between Jul y 1992 and June 1997. Their phenotypic characteristics were compared with e stablished diagnostic criteria. There was a male:female ratio of 1.3:1 and a high rate of consanguinity (36%) among parents. At birth, 54% were large and about one-third showed increased height and occipitofrontal head circum ference (OFHC). The neonatal histories revealed respiratory and feeding pro blems in 21%, followed later by delayed motor milestones and speech develop ment in 57%. During childhood, weight, height and OFHC increased further to > 97th centile in 71%, 71% and 93%, respectively. A seizure disorder affec ted 43%, and 75% had mental retardation (IQ < 70). A non-specific EEG abnor mality was found in half of those with seizures. Cranial CT/MRI showed vent ricular dilatation in 15% and one patient had corpus callosum dysgenesis. A bdominal ultrasound revealed hydronephrosis in two patients. Radiological c ephalometric measurements showed relative prognathism in cases of Sotos syn drome compared with controls (p = 0.003). The study highlights the importan ce of considering Sotos syndrome in children who present with psychomotor d elay.