Pitt-Hopkins syndrome accompanying hypoxic ischemic encephalopathy in a newborn.

Melda TasMervenur KurtulusElı F Keles GulnermanCanan TurkyilmazFerda Emriye PercinEbru ErgenekonEsin Koc

Published in: International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience (2022)

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.

Keyphrases

case report
end stage renal disease
early onset
ejection fraction
chronic kidney disease
prognostic factors
peritoneal dialysis
gene expression