The excessive storage of mucopolysaccharide in Hunter syndrome leads to various otologic manifestations. We interviewed 19 patients with Hunter syndrome to assess their otologic problems, and conducted audiologic tests and temporal bone CT. Patients with the intermediate or severe form exhibited severe speech delay by more than 2 years (12/14 patients). However, in patients with the mild form (5/5), speech development was not much disturbed (2/5), although otoscopic findings were similar. The hearing threshold determined by the auditory brainstem response differed significantly between the mild and intermediate/severe forms (p < 0.05). Therefore, patients with the mild form may benefit from active otologic intervention such as VT insertion, amplification, and speech therapy.

Bredenkamp JK, Smith ME, Dudley JP, Williams JC, Crumley RL, Crockett DM: Otolaryngologic manifestations of the mucopolysaccharidoses. Ann Otol Rhinol Laryngol 1992;101:472–478.
Coppa GV, Gabrielli O, Zampini L, Pierani P, Giorgi PL, Jezequel AM, Orlandi F, Miniero R, Busca A, De Luca T, et al: Bone marrow transplantation in Hunter syndrome (mucopolysaccharidosis type II): two-year follow-up of the first Italian patient and review of the literature. Pediatr Med Chir 1995;17:227–235.
Downs AT, Crisp T, Ferretti G: Hunter’s syndrome and oral manifestations: a review. Pediatr Dent 1995;17:98–100.
Guffon N, Souillet G, Maire I, Straczek J, Guibaud P: Follow-up of nine patients with Hurler syndrome after bone marrow transplantation. J Pediatr 1998;133:119–125.
Hopwood JJ, Bunge S, Morris CP, Wilson PJ, Steglich C, Beck M, Schwinger E, Gal A: Molecular basis of mucopolysaccharidosis type II: mutations in the iduronate-2-sulphatase gene. Hum Mutat 1993;2:435–442.
Kim CH, Hwang HZ, Song SM, Paik KH, Kwon EK, Moon KB, Yoon JH, Han CK, Jin DK: Mutational spectrum of the iduronate 2 sulfatase gene in 25 unrelated Korean Hunter syndrome patients: identification of 13 novel mutations. Hum Mutat 2003;21:449–450.
Leroy JG, Crocker AC: Clinical definition of the Hurler-Hunter phenotypes. A review of 50 patients. Am J Dis Child 1966;112:518–530.
Lowry RB, Renwick DH: Relative frequency of the Hurler and Hunter syndromes. N Engl J Med 1971;284:221–222.
Muenzer J, Lamsa JC, Garcia A, Dacosta J, Garcia J, Treco DA: Enzyme replacement therapy in mucopolysaccharidosis type II (Hunter syndrome): a preliminary report. Acta Paediatr Suppl 2002;91:98–99.
Ohlemiller KK, Hennig AK, Lett JM, Heidbreder AF, Sands MS: Inner ear pathology in the mucopolysaccharidosis VII mouse. Hear Res 2002;169:69–84.
Papsin BC, Vellodi A, Bailey CM, Ratcliffe PC, Leighton SE: Otologic and laryngologic manifestations of mucopolysaccharidoses after bone marrow transplantation. Otolaryngol Head Neck Surg 1998;118:30–36.
Peck JE: Hearing loss in Hunter’s syndrome – mucopolysaccharidosis II. Ear Hear 1984;5:243–246.
Rathmann M, Bunge S, Beck M, Kresse H, Tylki-Szymanska A, Gal A: Mucopolysaccharidosis type II (Hunter syndrome): mutation ‘hot spots’ in the iduronate-2-sulfatase gene. Am J Hum Genet 1996;59:1202–1209.
Sasaki CT, Ruiz R, Gaito R Jr, Kirchner JA, Seshi B: Hunter’s syndrome: a study in airway obstruction. Laryngoscope 1987;97:280–285.
Schachern PA, Shea DA, Paparella MM: Mucopolysaccharidosis I-H (Hurler’s syndrome) and human temporal bone histopathology. Ann Otol Rhinol Laryngol 1984;93:65–69.
Simmons MA, Bruce IA, Penney S, Wraith E, Rothera MP: Otorhinolaryngological manifestations of the mucopolysaccharidoses. Int J Pediatr Otorhinolaryngol 2005;69:589–595.
Wallace SP, Prutting CA, Gerber SE: Degeneration of speech, language, and hearing in a patient with mucopolysaccharidosis VII. Int J Pediatr Otorhinolaryngol 1990;19:97–107.
Young ID, Harper PS, Newcombe RG, Archer IM: A clinical and genetic study of Hunter’s syndrome. 2. Differences between the mild and severe forms. J Med Genet 1982;19:408–411.
Zechner G, Altmann F: The temporal bone in Hunter’s syndrome (gargoylism). Arch Klin Exp Ohren Nasen Kehlkopfheilkd 1968;192:137–144.
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