Congenital Central Hypoventilation Syndrome (“Ondine’s curse”*) in a child of twins (clinical case)
Tolstova E.M.¹, Zaitseva N.S.¹, Zaytseva O.V.¹, Mezentseva D.A.¹, Efimova E.V.², Isayeva E.K.², Stroganov I.A.², Abaseeva T.Yu.³, Radimova E.R.², Ionova E.A.<sup>2

1</sup> A.I. Yevdokimov Moscow State University of Medicine and Dentistry
² St. Vladimir Children’s Moscow Clinical Hospital
³ M. Vladimirsky Moscow Regional Research Clinical Institute (MONIKI), Moscow

The article presents a clinical observation of a baby from a twin with a confirmed syndrome of congenital central hypoventilation (CCHS). CCHS is a rare genetic disease manifested by primary alveolar hypoventilation during sleep. Usually the disease manifests in term infants with signs of hypoventilation and hypoxemia. Despite the hypoxemia and hypercapnia, there are no signs of respiratory distress and compensatory reactions, characteristic of respiratory failure of another genesis. At the same time, there may be signs of Hirschsprung’s disease (about 20% of patients), neurological symptoms. At the heart of the disease is a mutation of gene with defects of РНOX2B, confirmed in the described case. In our patient an absence of continuation of episodes of apnea after release of the baby from a period of newborn infancy caused a late diagnosis of the disease. Treatment is in ensuring of adequate ventilation. It is preferred to use non-invasive methods of artificial ventilation of the lungs: ventilation with a constant positive pressure, various types of oxygen masks. If it is impossible to use them, a tracheostomy is applied. An implantation of a stimulator of the diaphragmatic nerve is realized in Children older than 18 months.

Key words: congenital central hypoventilation syndrome, hypoventilation, respiratory failure, PHOX2B gene, hypercapnia, respiratory acidosis.
For citation: Tolstova E.M., Zaitseva N.S., Zaytseva O.V. et al. Congenital Central Hypoventilation Syndrome (“Ondine’s curse”*) in a child of twins (clinical case) // RMJ. 2018. № 5(II). P. 92–95.