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Abstract:
Hunter's syndrome [mucopolysaccharidosis II (MPS II)] is a genetic, metabolic disease of excessive mucopolysaccharide storage leading to mental and skeletal abnormalities, distinctive facial features, and increased incidence of hearing loss. However, the hearing impairment in MPS II has not been well described in the literature. This paper examines the auditory aspects of MPS II by reviewing the literature and by presenting two affected brothers. Each subject had mixed hearing disorders, fluctuating between moderate and severe degrees associated with recurrent middle ear effusions. Hearing loss appears to be a frequent concomitant of MPS II and is usually of mixed nature. The conductive component may persist after myringotomy. Aggressive audiological and otological management are required to enhance communicative development.
Insights
Hunter syndrome (mucopolysaccharidosis II) frequently causes hearing loss, often a mixed type with fluctuating moderate to severe degrees. Early audiological and otological intervention is crucial for communication development in affected individuals.
Area of Science:
- Genetics
- Metabolic Disorders
- Audiology
Background:
- Hunter syndrome (mucopolysaccharidosis II) is a genetic metabolic disorder characterized by mucopolysaccharide accumulation.
- This accumulation leads to various abnormalities, including hearing loss, which is not well-documented in existing literature.
Observation:
- This study reviews existing literature and presents two brothers diagnosed with Hunter syndrome.
- Both subjects exhibited mixed hearing disorders, fluctuating between moderate and severe levels.
- Recurrent middle ear effusions were a common feature in the observed cases.
Findings:
- Hearing impairment is a frequent characteristic of Hunter syndrome.
- The hearing loss is typically of a mixed nature, involving both conductive and sensorineural components.
- The conductive component of hearing loss may persist even after surgical intervention like myringotomy.
Implications:
- Aggressive audiological and otological management strategies are necessary for patients with Hunter syndrome.
- Proactive management is essential to optimize communicative development and improve quality of life.