A family case of congenital central hypoventilation syndrome (Ondine’s curse syndrome)

Congenital central hypoventilation syndrome is a rare genetic disease manifested by hypoventilation mainly during sleep due to the lack of autonomic control over breathing, decreased sensitivity to hypercapnia and hypoxemia. The cause of the disease is a defect in the PHOX2B gene. The disease usually manifests in the first days of life. A familial case of congenital central hypoventilation syndrome in two brothers is described. In the older child, the diagnosis was verified at the age of 4 months, in the younger — at the age of 1 week. Prenatal fetoplacental insufficiency, low Apgar score at birth in the older child led to the suspicion of severe perinatal CNS damage of mixed hypoxic-infectious genesis. However, the long-term, difficult-to-treat respiratory failure syndrome, the constant need for respiratory support, and unsuccessful multiple attempts to transfer the patient to independent breathing led to the search for congenital central hypoventilation syndrome. The diagnosis was confirmed by a molecular genetic method. Both children are currently receiving respiratory support by phrenic nerve stimulation.Conclusion. In full-term newborns with ineffective respiratory rehabilitation in the absence of neuromuscular, respiratory, cardiac diseases or brainstem damage, it is advisable to exclude congenital central hypoventilation syndrome. Early diagnosis and implantation of a phrenic nerve stimulator improve the prognosis and quality of life of patients.

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