Phelan-McDermid syndrome

Abstract

Phelan-McDermid syndrome (PMS) is a neurodevelopmental disorder, also known as 22q13.3 deletion syndrome, which causes the loss of function of the SHANK3 gene. It is characterized by severe neonatal hypotonia, global developmental delay, marked delay or absence of language and minor dysmorphisms. Although its prevalence is unknown, approximately 1200 cases have been recorded worldwide. It is a frequent cause of autism spectrum disorder and intellectual disability. The diagnostic method of choice is microarray analysis accompanied by conventional cytogenetics. Episodes of hetero-aggression are the main cause of admission of children and adolescents who have this congenital malformation. A case of PMS that required admission to the inpatient autism unit is described below. We believe that by disseminating this case we will contribute to raising awareness of PMS, which may allow for better clinical management.