Clinical characteristics on manifestation and gene mutation of a transient neonatal cyanosis: A case report

Abstract

BACKGROUND We analyzed the main features of an infant diagnosed with temporary neonatal cyanosis in order to strengthen our understanding of the disease. CASE SUMMARY We report a patient diagnosed with temporary neonatal cyanosis. The main clinical characteristics, gene mutation and treatment are discussed and a review of related literature was conducted. The neonate aged 1 d and 5 h was admitted to hospital due to cyanosis after birth. The main clinical manifestation was cyanosis, which was not improved by auxiliary ventilation and the patient showed no obvious shortness of breath or methemoglobinemia. Gene mutation analysis showed a heterozygous c.190C>T mutation in the HBG2 gene associated with transient neonatal cyanosis, which was derived from his mother. Symptomatic supportive treatment was given for 2 mo. The neonate was discharged and gradually improved with oral administration of vitamin C and vitamin B2 for 2 wk. CONCLUSION There is no special treatment for temporary neonatal cyanosis caused by heterozygous mutation of the HBG2 gene.