Epilepsy and early-onset overgrowth syndrome revealing Sotos syndrome

Abstract

A 44-year-old woman presented with childhood-onset refractory complex partial seizures. Medical history revealed neonatal macrosomia and hypotonia, early-onset overgrowth in infancy, macrocephaly and mild intellectual disability. Examination revealed macrodolichocephaly with prominent forehead and facial dysmorphisms, scoliosis, large hands and arachnodactyly (Figure 1). Neuroimaging showed macrocerebellum, ventriculomegaly and persistent cavum septum pellucidum (Figure 2). Clinical and neuroimaging features were diagnostic of Sotos syndrome.Sotos syndrome or cerebral gigantism is an autosomal dominant or sporadic disorder characterized by early-onset overgrowth syndrome, typical facial dysmorphisms, global developmental delay, epilepsy 1 and neuroimaging findings including midline defects, enlargement of ventricles and macrocerebellum 2 .