title: A case of Pitt-Hopkins syndrome presented with Angelman-like syndromic phenotypes.
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.
authors.affiliation: Department of Pediatrics, Children's Hospital, China Medical University Hospital, Taichung, 404, Taiwan.
authors.forename: Syuan-Yu
authors.initials: SY
authors.lastname: Hong
authors.affiliation: Department of Pediatrics, Children's Hospital, China Medical University Hospital, Taichung, 404, Taiwan.|Department of Medical Research, China Medical University and Hospital, Taichung, 404, Taiwan.
authors.forename: I-Ching
authors.initials: IC
authors.lastname: Chou
authors.affiliation: Department of Medical Research, China Medical University and Hospital, Taichung, 404, Taiwan.|School of Post-baccalaureate Chinese Medicine, China Medical University, Taichung, 404, Taiwan.
authors.forename: Wei-De
authors.initials: WD
authors.lastname: Lin
authors.affiliation: Department of Pediatrics, Children's Hospital, China Medical University Hospital, Taichung, 404, Taiwan. d0704@mail.cmuh.org.tw.|Department of Medical Research, China Medical University and Hospital, Taichung, 404, Taiwan. d0704@mail.cmuh.org.tw.|Department of Pediatrics, China Medical University Hospital, No. 2 Yuh-Der Road, Taichung, 404, Taiwan. d0704@mail.cmuh.org.tw.
authors.forename: Fuu-Jen
authors.initials: FJ
authors.lastname: Tsai
keywords: Angelman-like syndrome; Pitt-Hopkins syndrome; TCF4 gene