Pitt-Hopkins syndrome accompanying hypoxic ischemic encephalopathy in a newborn

Taş M., Kurtuluş M., Keleş Gülnerman E., Türkyılmaz C., Perçin F. E., Ergenekon N. E., ...More

INTERNATIONAL JOURNAL OF DEVELOPMENTAL NEUROSCIENCE, vol.82, no.5, pp.458-462, 2022 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 82 Issue: 5
  • Publication Date: 2022
  • Doi Number: 10.1002/jdn.10203
  • Journal Name: INTERNATIONAL JOURNAL OF DEVELOPMENTAL NEUROSCIENCE
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, BIOSIS, CAB Abstracts, EMBASE, MEDLINE, Veterinary Science Database
  • Page Numbers: pp.458-462
  • Keywords: hypoventilation, hypoxia, neonate, Pitt-Hopkins syndrome, DIFFERENTIAL-DIAGNOSIS, TCF4, DELINEATION
  • Gazi University Affiliated: Yes

Abstract

Hypoxic-ischemic encephalopathy (HIE) is one of the substantial causes of developmental-cognitive disability in neonates. In this early period, it is difficult to diagnose accompanying or predisposing genetic diseases in HIE patients. Herein, we present a patient with HIE who was diagnosed with Pitt-Hopkins syndrome in the newborn period.