Pitt-Hopkins syndrome accompanying hypoxic ischemic encephalopathy in a newborn

Melda Tas; Mervenur Kurtulus; Elı F Keles Gulnerman; Canan Turkyilmaz; Ferda Percin; Ebru Ergenekon; Esin Koc

doi:10.1002/jdn.10203

Pitt-Hopkins syndrome accompanying hypoxic ischemic encephalopathy in a newborn

Int J Dev Neurosci. 2022 Aug;82(5):458-462. doi: 10.1002/jdn.10203. Epub 2022 Jun 21.

Authors

Melda Tas¹, Mervenur Kurtulus², Elı F Keles Gulnerman¹, Canan Turkyilmaz¹, Ferda Percin³, Ebru Ergenekon¹, Esin Koc¹

Affiliations

¹ Department of Pediatrics, Neonatal Intensive Care Unit, Gazi University Faculty of Medicine, Ankara, Turkey.
² Department of Pediatrics, Gazi University Faculty of Medicine, Ankara, Turkey.
³ Department of Medical Genetics, Gazi University Faculty of Medicine, Ankara, Turkey.

PMID: 35707852
DOI: 10.1002/jdn.10203

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.

Keywords: Pitt-Hopkins syndrome; hypoventilation; hypoxia; neonate.

Publication types

Case Reports

MeSH terms

Facies
Humans
Hyperventilation
Hypoxia-Ischemia, Brain* / complications
Hypoxia-Ischemia, Brain* / diagnostic imaging
Infant, Newborn
Intellectual Disability

Supplementary concepts

Pitt-Hopkins syndrome