Shima Darwish

Congenital central hypoventilation syndrome in a neonate presenting as nonketotic hyperglycinemia; a case report and literature review

Introduction Congenital central hypoventilation syndrome (CCHS) is a neurogenetic disorder of the central nervous system characterized by failure of central control of breathing, leading to apnea. It's caused by a mutation in the PHOX2B gene. Patients with this condition can be v...