A case of Pitt-Hopkins syndrome presented with Angelman-like syndromic phenotypes

Pitt-Hopkins syndrome (PTHS), caused by a TCF4 gene mutation, is a condition characterized by intellectual disability and developmental delay, breathing anomalies, epilepsy, and distinctive facial dysmorphism [1]. Its diverse clinical appearance causes pediatricians to confuse it with Angelman syndrome, which is considered one of the family members of Angelman-like syndrome. Herein, we report on a 4 y/o boy with PTHS and discuss its similarities and differences with Angelman syndrome. In doing so we hope to provide a feasible pathway to diagnose rare diseases, especially Angelman-like syndrome.