Chronic Hypercapnic Respiratory Failure in a Patient With Smith-Magenis Syndrome: A Case Report

Smith-Magenis syndrome (SMS) is a genetic disorder characterized by intellectual disability, behavioral challenges, and distinctive physical abnormalities. This case report describes a patient with SMS who presented with pneumonia and was found to have chronic hypercapnic respiratory failure, attributed to kyphoscoliosis and obesity-related conditions such as obesity hypoventilation syndrome and obstructive sleep apnea. Following treatment with non-invasive ventilation (NIV), the patient's baseline oxygen levels improved, and she was discharged with domiciliary NIV and respiratory follow-up. This report highlights the susceptibility of SMS patients to respiratory complications and emphasizes the importance of a comprehensive approach to managing these challenges.