Abstract

Congenital central hypoventilation syndrome (CCHS) is an uncommon genetic disease characterised by an autonomic nervous system dysfunction that affects ventilatory homeostasis. Involvement of other systems is also described, mainly cardiovascular, gastrointestinal and central nervous systems. We describe a rare case of CCHS diagnosed in a term newborn who presented with persistent apnoea in the first hours of life. After an exhaustive aetiological study excluding primary pulmonary, cardiac, metabolic and neurological diseases, this diagnosis was confirmed by a paired-like homeobox 2B gene sequence analysis. During hospitalisation, ventilation was optimised and multidisciplinary follow-up was initiated, including genetic counselling. At 2 months old, the child was discharged under non-invasive ventilation during sleep. This case illustrates the importance of early diagnosis, including genetic study and advances in home ventilation. These factors allow early hospital discharge and timely multidisciplinary intervention, which is crucial for patients’ quality of life and outcome optimisation.