Audiological Profiling and Rehabilitation Outcomes in a Child with Mucopolysaccharidosis Type II

Background and Aim: Mucopolysaccharidosis (MPS II) is a group of rare lysosomal storage disorders, with seven sub-types. MPS II also known as Hunter’s syndrome is the only subtype that is affected by X-linked inheritance, while the others are of autosomal inheritance. The Case: The study aimed to discuss the impact of Hunter syndrome, its pathophysiology, assessment diagnosis, audiological profiling, rehabilitation, and prognostic factors in a child diagnosed with MPS II at the age of 4 years. The auditory symptoms begin around at the age of 2–4 years, as the harmful molecule builds up in the middle ear bone sizes resulting in joint stiffness, and conductive hearing loss gradually progressing into mixed hearing loss with varying degree. Each audiological test finding was linked to the pathophysiology of MPS II, with the discussion emphasising suitable rehabilitative options and importance of multidisciplinary management of hunter syndrome. Conclusion: The atypical manifestations of MPS II with fluctuating hearing loss is suggestive of the need for early identification, adequate profiling, appropriate rehabilitative measures and role of allied professionals in management of the disorder.