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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 to97th centile in 71%, 71% and 93%, respectively. A seizure disorder affected 43%, and 75% had mental retardation (IQ70). 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.

Thirteen children with Friedreich's ataxia were reviewed. The clinical presentation and evolution of the disease was compared to that observed in large series—based mainly on adult patients—and the few studies in children. The mean age of onset (5.3 ± 2.7 years) was lower than that reported in the former studies. Progressive unremitting ataxia of all four limbs was the earliest and most consistent finding, whereas dysarthria and loss of joint or vibration sense occurred with less frequency than that reported in adult series. The tendon jerks were absent or reduced in the lower limbs in almost all children. The universal absence of lower limb reflexes was shown to be too rigid to be obligatory for the diagnosis of early cases of Friedreich's ataxia. Electrophysiologic investigations revealed typical findings, ie, normal or low-normal motor conduction velocities and absent sensory responses. Electromyography showed more features of denervation in the lower limbs than in the upper limbs. Cardiac symptoms and signs were minimal, whereas electrocardiographic abnormalities occurred in 92% of patients, presenting mostly as significant T-wave changes. Concentric symmetric thickening of both the interventricular and left ventricular posterior walls was the major echocardiographic finding. ( J Child Neurol 1990;5:321-326).