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

Year: 2024

Type: article

Abstract: 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.

Source: Cureus

DOI: 10.7759/cureus.72980

Authors: Qasim Alhaj Ali, Ingyin May, Debarghya Chakraborty, Chia Ling Tey

Institutions: King's College Hospital NHS Foundation Trust, King's College Hospital

Language: English

Topic: Obstructive Sleep Apnea Research

Subfield: Physiology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: diamond

OpenAlex ID: W4404042177