Audiologic evaluations of children with mucopolysaccharidosis

Abstract

Introduction: Mucopolysaccharidosis is a hereditary lysosomal storage disease, which develops due to a deficiency in the enzymes that play a role in the metabolism of glycosaminoglycans (GAG). The incidence of mucopolysaccharidosis is 1/25,000, with autosomal recessive inheritance (except for MPS II). Mucopolysaccharidosis occurs in seven different types, each with a different congenital deficiency of lysosomal enzymes. In mucopolysaccharidosis patients, even though progression of clinical findings is not prominent, the disease advances and causes death at early ages. Facial dysmorphism, growth retardation, mental retardation, and skeletal or joint dysplasia are the most frequently found symptoms in these patients. Objective: The purpose of our study is to present the types of hearing loss types and tympanometric findings of patients with mucopolysaccharidosis referred to our clinic with suspicion of hearing loss. Methods: After otorhinolaryngological examination, 9 patients with different types of mucopolysaccharidosis, underwent to immittance and audiometric evaluations, performed according to their physical and mental abilities, and ages, in order to determine their hearing thresholds. Results: The audiometric findings of the 9 patients followed with mucopolysaccharidosis were reported separately for each case. Conclusion: Based on the high frequency of hearing loss in mucopolysaccharidosis patients, early and detailed audiological evaluations are highly desirable. Therefore, regular and systematic multidisciplinary evaluations are very important.