Mutations in the Paired-Like Homeobox 2B (PHOX2B) gene caused congenital central hypoventilation syndrome (CCHS), an uncommon illness. It caused autonomic dysfunction and alveolar hypoventilation. For a study, the researchers aimed to raise awareness of this unusual cause of infant apnea and hypoventilation and discuss the diagnostic workup used to confirm the diagnosis in resource-constrained settings where neonatal polysomnography was unavailable. Desaturation occurred shortly after birth in a late preterm female child born to a non-consanguineous primigravida 31-year-old mother, followed by apnea and bradycardia. The patient suffered extubation failure due to apnea without hypercapnic ventilatory response, exacerbated during non-rapid eye movement (NREM) sleep after becoming clinically stable. Investigators suspected congenital central hypoventilation syndrome and sent genetic tests after ruling out other causes. A PHOX2B gene mutation was discovered, confirming the diagnosis of CCHS. They provided multidisciplinary home respiratory care training to the patient’s carers, including tracheostomy care, essential life support, and simulation training for respiratory problem-solving. The patient was then discharged and given a follow-up appointment for any related conditions. After ruling out other causes, the absence of hypercapnic ventilatory response that worsens during non-rapid eye movement (NREM) sleep was used to diagnose CCHS in neonates. The diagnosis was confirmed by molecular testing for a PHOX2B gene mutation.
Source:bmcpediatr.biomedcentral.com/articles/10.1186/s12887-022-03167-8
