Neuropsychiatry in a case of Sotos syndrome

Abstract

Sotos syndrome is a genetic disease with an autosomal dominant inheritance pattern, caused, in most cases, by a haploinsufficiency of the NSD1 gene (nuclear protein SET receptor binding domain- 1), with locus 5q35. It is characterized by accelerated overgrowth during childhood, characteristic facial appearance, macrocephaly, and variable intellectual disability. It includes behavioral alterations and neuropsychiatric symptoms, such as attention deficits, social inhibition, psychomotor delay and clumsiness, impulsivity and aggressiveness. The case of a 9-year-old male, diagnosed with Sotos syndrome, who presented oppositional behaviors, impulsiveness and aggressiveness, is described. He suffers from bronchial asthma, occasionally treated with inhaled salbutamol, arthritis in a finger and corrected myopia. He was cooperative in the psychopathological examination, without mood alterations, with psychomotor clumsiness, speech focused on a conflict with a classmate, and concern about overgrowth. No thinking or sensory perceptual alterations are observed. Multidisciplinary interventions were carried out, in coordination with the pediatrician, the social worker and the psychopedagogical counselor of the school. Treatment was carried out with risperidone, at an initial dose of 0.5 mg daily, which allowed significant behavioral improvement to be achieved, both at school and at home. During follow-up, the dose was reduced to 0.25 mg daily due to the presence of adverse effects (salorrhea and palpitations), maintaining a stable clinical response.