KONGENITALNI CENTRALNI HIPOVENTILACIJSKI SINDROM

Congenital central hypoventilation syndrome is a rare genetic disorder in which autonomic control of breathing is disturbed, resulting in hypoventilaton, which is manifested with inability to maintain normal values of the partial pressure of carbon dioxide. The syndrome is the result of gene mutations PHOX2B which are inherited in autosomal dominant way. The gene encodes a transcription factor that plays an important role in the regulation of neural crest migration and development of the autonomic nervous system. The syndrome can be presented differently, often with early symptoms in the newborn period. The range of symptoms is different, but they all include acute or chronic hypoventilation with hypoxia and hypercarbia. In severe forms, there is a complete cessation of breathing in sleep, with severe hypoventilation in wakefulness. In addition to respiratory symptoms, cardiac disorders such as arrhythmias may occur. 5% of patients with CCHS will have tumors of neural crest cells. In 13-20% of all patients Hirschsprung's disease occurs, which has significantly more severe clinical pressentation in combination with CCHS. Genetic testing to PHOX2B gene mutations has the important role in the diagnosis. Mutations are found in 95% of patients. For the final diagnosis of hypoventilation it is necessary to observe the physiology of breathing during wakefulness, REM and non-REM sleep. This is accomplished by polysomnography. Hypoventilation is confirmed with the pCO2 > 45 mmHg. In the treatment, is essential to provide adequate ventilation, with continuous monitoring. There are different forms of assisted ventilation, which should connect the best technology with the lifestyle and possibilities of parents. In Croatia, for now, CCHS is discovered and confirmed by genetic analysis in three patients. It is always necessary to think about the possibility of this disease. With early diagnosis and treatment, patients can grow and develop normally.