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

Abstract

Fourteen children (of Arab ethnic origin) with Sotos syndrome are described. They were referred to King Khalid University Hospital, Riyadh between July 1992 and June 1997. Their phenotypic characteristics were compared with established 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 circumference (OFHC). The neonatal histories revealed respiratory and feeding problems in 21%, followed later by delayed motor milestones and speech development in 57%. During childhood, weight, height and OFHC increased further to > 97th centile in 71%, 71% and 93%, respectively. A seizure disorder affected 43%, and 75% had mental retardation (IQ < 70). A non-specific EEG abnormality was found in half of those with seizures. Cranial CT/MRI showed ventricular dilatation in 15% and one patient had corpus callosum dysgenesis. Abdominal ultrasound revealed hydronephrosis in two patients. Radiological cephalometric measurements showed relative prognathism in cases of Sotos syndrome compared with controls (p = 0.003). The study highlights the importance of considering Sotos syndrome in children who present with psychomotor delay.

Successful management of vena caval compression due to a giant hydronephrosis by retroperitoneoscopic nephrectomy

“…The largest series of Sotos syndrome reported by al Rashed et al showed that two of their 14 patients had an associated hydronephrosis, an incidence of 14.3% [18]. The fact that none of the patients with Sotos syndrome with hydronephrosis reported so far had distal venous thrombosis or varicose veins can be partly explained by their having been detected and corrected during early childhood.…”

Sotos syndrome, failure to thrive and parotitis

“…Neonatal feeding difficulties are described in the literature about Sotos syndrome and occurred in 21% of cases in one study,3 and 35% in another 2. Failure to thrive is not well documented.…”

Sotos syndrome: An interesting disorder with gigantism

“…[10] In a report from Saudi Arabia, 43% of 14 patients with Sotos syndrome had epilepsy. [18] West syndrome has also been reported in a patient with Sotos syndrome. [19] In a study performed on a large population from several colleges and schools of optometry and various clinics of optometrists and ophthalmologists, it was found that moderate to high refractive error, nystagmus and strabismus were commonly associated with Sotos syndrome.…”