ABSTRACT

Pathogenic variants of the gene encoding the chromodomain helicase DNA binding protein 2 (CHD2) protein are associated with neurodevelopmental disorders. These disorders are rare and characterized by early-onset epileptic encephalopathy with refractory seizures leading to regression or slowing of cognitive function. Psychiatric disorders, such as intellectual disability (ID), autism spectrum disorder, attention deficit and hyperactivity disorder (ADHD), often accompany the clinical picture. In this case report, we discuss a female adolescent diagnosed with CHD2-related early-onset epileptic encephalopathy, ID, ADHD, and conduct disorder.