Pediatric neuropsychiatry at a glance. A rare condemnatory disease: Pitt-Hopkins syndrome

Abstract

Pitt-Hopkins syndrome is a genetic condition less de­bated in the literature in our country and even abroad. How­ever, in daily practice, the clinical pediatrician may en­coun­ter this syndrome, which may mask or overlap other psychiatric conditions, such as autism spectrum dis­order, or various aspects of certain neuromuscular dis­orders. The fact that not all children present the symptoms of this syndrome makes the differential diagnosis ex­treme­ly difficult. Moreover, current approaches to this neuro­pa­tho­lo­gical syndrome have a limited impact.