Case report

BioMedicine

, 6:25

First online:

Open Access This content is freely available online to anyone, anywhere at any time.

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

  • Syuan-Yu HongAffiliated withDepartment of Pediatrics, Children’s Hospital, China Medical University Hospital
  • , I-Ching ChouAffiliated withDepartment of Pediatrics, Children’s Hospital, China Medical University HospitalDepartment of Medical Research, China Medical University and Hospital
  • , Wei-De LinAffiliated withDepartment of Medical Research, China Medical University and HospitalSchool of Post-baccalaureate Chinese Medicine, China Medical University
  • , Fuu-Jen TsaiAffiliated withDepartment of Pediatrics, Children’s Hospital, China Medical University HospitalDepartment of Medical Research, China Medical University and HospitalDepartment of Pediatrics, China Medical University Hospital Email author 

Abstract

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.

Keywords:

Pitt-Hopkins syndrome Angelman-like syndrome TCF4 gene