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

Abstract

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 ventilator dependent. Nonketotic hyperglycinemia (NKH) is an inborn error of metabolism and potentially can mimic this syndrome. We report a case of CCHS that initially presented with a picture of NKH, delaying the diagnosis of the primary cause of brain disorder. Case presentation A full-term female neonate was born with normal growth parameters. After birth, she experienced recurrent attacks of apnea and desaturation. The patient was misdiagnosed initially as a case of seizure and, the second time as a case of NKH. Genetic testing revealed the presence of a PHOX2B gene mutation, confirming the diagnosis of CCHS. Multidisciplinary management was essential in this case. She was ventilator-dependent until the age of 5 months, when she passed away secondary to complications of tracheostomy. Conclusion Initial misdiagnosis of NKH was unique to this case, delaying the diagnosis of CCHS and underscoring that such atypical presentations can be hidden behind rare and serious conditions.