Complex Neuropsychiatric Phenotypes in Children - A Matter

Brunner syndrome is a rare disorder with recessive X-linked inheritance. It has been linked to various degrees of intellectual disability and antisocial behavior. There are only four families described in the literature so far. We present the clinical case of a young boy with a pervasive developmental disorder and irritability with explosive anger outbursts,together with a family history of male adults with similar early neuro developmental and behavioral problems and impulsive and violent behavior in adulthood. A disease-focused exome sequencing was performed and a diagnosis of Brunner syndrome was made with a newly identified mutation. This reinforces the need of a targeted and thorough investigation in the early developmental period in the presence of family clusters of aggression and intellectual disability phenotypes.