Neonatal-onset cyanotic breath-holding spells: a case report with longitudinal diagnostic dilemma

Breath-holding spells (BHS) are benign paroxysmal events that typically present between 6 and 18 months of age. Neonatal-onset BHS is rare and may closely mimic other causes of neonatal cyanotic episodes, particularly respiratory inhibition after crying (RIAC). We report a term male infant who developed recurrent cyanotic episodes starting at birth and underwent extensive investigations with unremarkable results. He was initially diagnosed with prolonged RIAC. Longitudinal follow-up demonstrated persistence of episodes with evolution into a classical cyanotic breath-holding phenotype. This case highlights the importance of longitudinal assessment in neonates with unexplained cyanotic spells and supports the inclusion of breath-holding spells in the differential diagnosis after exclusion of serious underlying conditions.