Abstract Introduction Hurler syndrome, also known as Mucopolysaccharidosis type I (MPS I), is a rare autosomal recessive disorder caused by a deficiency in the enzyme alpha-L-iduronidase. This leads to the accumulation of glycosaminoglycans (GAGs) in multiple systems. OSA is a common yet under-recognized complication of Hurlers syndrome, often arising from the progressive accumulation of GAG in upper airway structures, specifically the tonsils, adenoids, macroglossia, and other soft tissue structures; often leading to challenges in anesthesia and failure of conservative treatment. Adenotonsillectomy (T50mmHg of 36% and an abnormal sleep architecture. An urgent ENT, cardiology and anesthesia evaluation recommended T50mmHg of 45% The patient underwent tracheostomy with resolution of sleep apnea and significant improvement in quality of life. This case highlights the importance of early OSA screening in MPS I and discusses the complexities of airway management with delay in management. Discussion OSA affects 70-90% of Hurler syndrome patients and represents a significant cause of morbidity and mortality. This case provides important insights into the natural history of progressive airway obstruction in Hurler syndrome, the limitations of conservative management approaches, and the potentially catastrophic consequences when patients with complex medical needs lose access to specialized multidisciplinary care. Tracheostomy remains the most definitive and reliable intervention for severe OSA in Hurler syndrome. While it represents a significant burden for patients and families, including risks of infection, and impact on speech development, it is often life-saving and substantially improves quality of life in appropriately selected patients. This abstract is funded by: None
Mohiuddin et al. (Fri,) studied this question.