Sleep-disordered Breathing in an Adult with Mucopolysaccharidosis Type I (Hurler–Scheie Syndrome): A Case Report

Aim and background: Hurler-Scheie syndrome, also known as mucopolysaccharidosis (MPS) type I, is one of the lysosomal storage diseases, resulting in the accumulation of glycosaminoglycans in various organs.The patient presents with coarse facial features, musculoskeletal deformities, and umbilical hernia with no signs of intellectual disability or corneal involvement in childhood.This case report aims to create awareness among the clinicians to identify, diagnose, and treat the sleep-disordered breathing (SDB) in adult patients of MPS.Case description: This case report highlights the incidence of a 33-year-old adult, who was diagnosed with MPS type I in childhood, and later presented with SDB in his adulthood.The patient was diagnosed with obstructive sleep apnea (OSA) with polysomnography.He was treated with bilevel PAP support in which post-treatment his apnea-hypopnea index (AHI) showed drastic improvement from AHI of 99.2 to AHI of 2. Conclusion:The SDB and OSA are few of the respiratory complications seen in MPS type I.With the advent of new therapies, these pediatric disorders have better survival rates than the past few years.Adult survivors of MPS, thus pose as a novel challenge to physicians in their management.Clinical significance: This case report highlights a new challenge that physicians face with the treatment of adults' survivors of MPS, who present with SDB.