Abstract
CHARGE syndrome is a rare and complex disorder, causing multiple birth defects and sensory deficits. The CHD7 gene was proved to be the major pathogenic gene in CHARGE syndrome. To date, the phenotype of neonatal CHARGE syndrome is still poorly recognized. In this paper, we report a Chinese neonate with typical CHARGE syndrome. During his stay in the neonatal intensive care unit of our hospital, the patient presented with various appearance abnormalities, severe dyspnea, dysphagia and recurrent infection. Integrated analysis of the clinical manifestations and examinations suggested a diagnosis of CHARGE syndrome. Later, the genetic analysis revealed a de novo null heterozygous pathogenic mutation in the patient's CHD7 gene [c.6292C>T (p.Arg2098*)]. Taken together, the patient was diagnostic confirmed as typical CHARGE syndrome. The physicians provided symptomatic treatments for the patient which significantly alleviated his condition, including infection control, laryngoplasty, nasogastric tube feeding and respiratory support. To our knowledge, this case broadens the clinical phenotypic spectrum of typical CHARGE syndrome in neonatal period due to the null mutation of CHD7 gene [c.6292C>T (p.Arg2098*)]. It also demonstrates that genetic analysis is essential in the diagnosis of CHARGE syndrome early in life. Clinicians should focus on providing supportive and corrective therapies in early treatment, particularly in controlling infection, and improving breathing and feeding.