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Background: The mucopolysaccharidoses (MPS) is an autosomal recessive disorder, caused due to malfunctioning of certain lysosomal enzymes involved in degradation of glycosaminoglycans. This report presents audiological evaluation findings found in two siblings with Morquio syndrome (MPS type IV). Materials and Methods: The present study evaluated two individuals (case A: 18-year-old male and case B: 15-year-old female) with a routine audiological evaluation including pure tone audiometry, speech audiometry, and immittance evaluation. Results: Case 'A' and 'B' were assessed for three consecutive audiological evaluations over time in a span of 2 years. For case A, all three evaluations revealed same degree of hearing loss in both ears. However, for case B, results reveal that there was increase in degree of hearing loss in both ears. Further, immittance results in both case A and B revealed middle ear pathology in both ears in all the three evaluations. Hence, it can be concluded that there was no progression in severity of hearing loss in case A; however, same was observed in case 'B'. In addition to that, at present both case A and B are using moderate gain digital behind the ear hearing aid in both the ears which is enabling them to communicate better. Conclusion: To conclude on these case reports of the siblings, otologist and audiologist need to be aware of this relevant information and take immediate steps to provide services to patients. Regular follow-up of the clients is an important aspect as it is highlighted in present study. |
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