Cases of syndrome of congenital central hypoventilation (VTSG, CCHS, Ondine’s curse syndrome) in Yakutia

Abstract

The article presents 2 clinical cases of congenital central hypoventilation (CCHS) in children in the Republic Sakha (Yakutia). The first case is a child born in 2016; the diagnosis was confirmed at 7 months of age. The second case is a child born in 2018; the diagnosis was confirmed before 1 month of life. In clinical practice, there is often a hypodiagnosis of this disease, which explains the rarity of its definition. Taking into account clinical manifestations and depending on their intensity, early diagnosis prevents undesirable consequences of hypoxia and hypercapnia episodes, provides proper control over asphyxia episodes and determines the disease prognosis. Since CCHS usually manifests itself in the neonatal period and mimics a multitude of diseases, differential diagnosis requires the elimination of a variety of conditions accompanied by alveolar hypoventilation, including congenital myasthenia, a number of myopathies, diaphragm dysfunction, various lung and heart defects.