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., ...Daha Fazla

INTERNATIONAL JOURNAL OF DEVELOPMENTAL NEUROSCIENCE, cilt.82, sa.5, ss.458-462, 2022 (SCI-Expanded, Scopus)

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 82 Sayı: 5
  • Basım Tarihi: 2022
  • Doi Numarası: 10.1002/jdn.10203
  • Dergi Adı: INTERNATIONAL JOURNAL OF DEVELOPMENTAL NEUROSCIENCE
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, BIOSIS, CAB Abstracts, EMBASE, MEDLINE, Veterinary Science Database
  • Sayfa Sayıları: ss.458-462
  • Anahtar Kelimeler: hypoventilation, hypoxia, neonate, Pitt-Hopkins syndrome, DIFFERENTIAL-DIAGNOSIS, TCF4, DELINEATION
  • Gazi Üniversitesi Adresli: Evet

Özet

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.