Congenital Central Hypoventilation Syndrome: A Comprehensive Review and Future Challenges

Abstract

Congenital central hypoventilation syndrome is a disorder predisposed by a paired-like homebox PHOX2B gene. A mutation in the PHOX2B gene is a requisite when diagnosing congenital central hypoventilation syndrome. This mutation is identified in 93-100% of diagnosed patients. The mutation regarding this disorder affects the sensors, the central controller, and the integration of the signals within the central nervous system. This, inter alia, leads to insufficient ventilation and a decrease in PaO 2 , as well as an increase in PaCO 2 . Affected children are at risk during and after the neonatal period. They suffer from hypoventilation periods which may be present whilst sleeping only or in more severe cases when both asleep and awake. It is important for clinicians to perform an early diagnosis of congenital central hypoventilation in order to prevent the deleterious effects of hypoxaemia, hypercapnia, and acidosis on the neurocognitive and cardiovascular functions. Patients need long-term management and appropriate ventilatory support for improving the qualities of their lives. This paper provides a detailed review of congenital central hypoventilation syndrome, a congenital disorder that is genetic in origin. We describe the genetic basis, the wider clinical picture, and those challenges during the diagnosis and management of patients with this condition.

Congenital Central Hypoventilation Syndrome (Ondine’s Curse): Clinical Case

“…Хотя, учитывая отсутствие клинической настороженности врачей, можно предположить, что некоторые случаи внезапной младенческой смерти также могут быть вызваны недиагностированным СВЦГ [33]. Более частыми причинами центральной гиповентиляции являются структурные поражения мозга, сердечные, респираторные, нервномышечные, метаболические нарушения или хромосомопатии [34,35]. Поэтому при признаках центральной гиповентиляции у новорожденных в первую очередь следует исключить сепсис, менингит, метаболические нарушения (например, дефекты митохондрий, гипотиреоз), родовую травму, структурные аномалии ствола мозга, врожденные миопатии, сердечно-сосудистые заболевания, внутримозговые кровоизлияния и аномалии дыхательных путей [36] [21].…”

Adolescent Congenital Central Hypoventilation Syndrome: An Easily Overlooked Diagnosis

“…Individuals with CCHS tend to have a slightly malformed facial structure with a broad, flat, rectangular face [31]. Lateral edges of the vermillion are turned inferiorly [31].…”

“…Such features were not present in our patient. Those characteristics are a result of impaired development of the dorsal rhombencephalon, in which PHOX2B is expressed [31].…”

It Takes a Village: The Importance of Neuropsychological Findings in a Collaborative Approach for a Patient with Congenital Central Hypoventilation Syndrome and Specific Phobia

“…Additional comorbidities include cardiac conduction disorders, gastroesophageal reflux, constipation with Hirschsprung's disease, thermal dysregulation, orthostatic hypotension, ophthalmologic disorders, or neural crest tumors [ 5 ]. Patients with CCHS require ventilatory support, and a bronchoscopy is recommended every 12-24 months to examine for abnormalities in the airway [ 6 ].…”