Vocal Cord Paralysis in Association with CHARGE Syndrome: A Case Report

CHARGE (Coloboma, Heart defects, Atresia choanae (also known as choanal atresia), growth Retardation, Genital abnormalities and Ear abnormalities) Syndrome (CS) is a rare genetic disorder characterised by distinct physical and developmental abnormalities. This report presents a case of a seven-day-old male infant who exhibited respiratory distress, noisy breathing and feeding difficulties, was subsequently diagnosed with CS due to a pathogenic variant in the CHD7 gene. The infant exhibited vocal cord paralysis, bilateral profound hearing loss and other characteristic features of CS. Multidisciplinary management included Continuous Positive Airway Pressure (CPAP), antibiotics, laparoscopic gastrostomy, fundoplication and treatment for heart failure. Comprehensive evaluation and genetic testing confirmed the diagnosis of CS, underscoring the need for a multidisciplinary approach to managing associated conditions. This case highlights the importance of early recognition and management of CS. Furthermore, this case report contributes to the existing literature by emphasising the unique clinical manifestations and challenges associated with CS. Early diagnosis and management of this condition can significantly impact the quality of life and outcomes for affected individuals. This report underscores the importance of prompt recognition and referral to specialised care teams for optimal management of CS.