Congenital Central Hypoventilation Syndrome
نویسندگان
چکیده
Congenital central hypoventilation syndrome (CCHS) is a rare neurocristopathy with disordered respiratory control and autonomic nervous system regulation. CCHS is caused by mutations in the PHOX2B gene, and the PHOX2B genotype/mutation anticipates the CCHS phenotype, including the severity of hypoventilation, risk of sinus pauses, and risk of associated disorders including Hirschsprung disease and neural crest tumors. It is important to maintain a high index of suspicion in cases of unexplained alveolar hypoventilation, delayed recovery of spontaneous breathing after sedation or anesthesia, or in the event of severe respiratory infection, and unexplained seizures or neurocognitive delay. This will improve identification and diagnosis of milder CCHS cases and later onset/presentation cases, allowing for successful intervention. Early intervention and conservative management are key to long-term outcome and neurocognitive development. Research is underway to better understand the underlying mechanisms and identify targets for treatment advances and drug interventions.
منابع مشابه
Congenital central hypoventilation syndrome with hirschsprung's disease due to PHOX2B gene mutation in a Turkish infant.
The association of congenital central hypoventilation syndrome (also known as Ondine's curse) and Hirschsprung's disease is termed Haddad syndrome, which is an extremely rare disorder. Recent studies have described that the PHOX2B gene mutation was responsible for congenital central hypoventilation syndrome. We report a term newborn male infant with clinical manifestations of recurrent hypovent...
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