Intensive care medicine

Engineering

Ventilation (architecture)

Hypoventilation

Mechanical engineering

Pediatrics

Congenital central hypoventilation syndrome

Hypercapnia

Internal medicine

Respiratory system

Medicine

Disease

Russian Pediatric Journal

There is described the clinical picture of a rare genetic disease - idiopathic Congenital Central Hypoventilation Syndrome (CCHS), characterized by the disturbance of the autonomous control of breathing, leading to an inadequate response to ventilation, hypercapnia and anoxia of the body. There are presented clinical observations of CCHS in two girls from the same family, who had the classic symptoms of the disease. Correct and timely diagnosis was shown to allow timely provide adequate patient management.

CONGENITAL CENTRAL HYPOVENTILATION SYNDROME (TWO CASES FROM THE SAME FAMILY)