A rare case of congenital central hypoventilation syndrome in a premature neonate with multiple coexisting morbidities: A comprehensive clinical analysis

Abstract

We present a complex case of a premature neonate born at 27 weeks and 6 days gestation, exhibiting a spectrum of medical issues. Despite exhaustive medical interventions and a prolonged hospital course, the neonate experienced a sudden cardiac arrest on day 237. Whole exome sequencing revealed a PHOX2B gene mutation, confirming congenital central hypoventilation syndrome (CCHS). This case report delves into the intricate diagnostic challenges, therapeutic interventions, and the interplay of coexisting morbidities that shaped the clinical trajectory of this neonate.