Open AccessCONGENITAL CENTRAL HYPOVENTILATION SYNDROME (TWO CASES FROM THE SAME FAMILY)
Author(s) -
N. I. Zryachkin,
G. V. Zaytseva,
S. A. Khmilevskaya,
М. А. Кузнецова,
Т. В. Елизарова
Publication year - 2019
Publication title -
rossijskij pediatričeskij žurnal
Language(s) - English
Resource type - Journals
eISSN - 2413-2918
pISSN - 1560-9561
DOI - 10.18821/1560-9561-2017-20-3-180-184
Subject(s) - congenital central hypoventilation syndrome , hypoventilation , hypercapnia , medicine , disease , pediatrics , ventilation (architecture) , intensive care medicine , respiratory system , engineering , mechanical engineering
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.