Hashimoto Ayako, Kumagai Tadayuki, Mineta Hiroyuki
Department of Otorhinolaryngology, Shizuoka Children's Hospital, Shizuoka, Japan.
Department of Pediatrics, Fujieda City General Hospital, Fujieda, Japan.
Case Rep Otolaryngol. 2018 May 13;2018:4252696. doi: 10.1155/2018/4252696. eCollection 2018.
Hunter syndrome is a lysosomal disease characterized by deficiency of the lysosomal enzyme iduronate-2-sulfatase (I2S). It has an estimated incidence of approximately 1 in 1,62,000 live male births. We report a case of Hunter syndrome diagnosed by an otorhinolaryngologist. To our knowledge, this is the first study diagnosed by an otorhinolaryngologist despite the fact that otorhinolaryngological symptoms manifest at a young age in this disease. The patient was a 4-year-old boy. He underwent adenotonsillectomy. Intubation was difficult, and he had some symptoms which are reasonable as a mucopolysaccharidosis. The otorhinolaryngologist should play an integral role in the multidisciplinary approach to the diagnosis and management of many children with MPS (mucopolysaccharidoses) disorders.
亨特综合征是一种溶酶体疾病,其特征是溶酶体酶艾杜糖醛酸-2-硫酸酯酶(I2S)缺乏。据估计,在活产男婴中的发病率约为1/162000。我们报告一例由耳鼻喉科医生诊断出的亨特综合征病例。据我们所知,尽管该疾病在幼年时就会出现耳鼻喉科症状,但这是首例由耳鼻喉科医生诊断的病例。患者为一名4岁男孩。他接受了腺样体扁桃体切除术。插管困难,并且他有一些符合黏多糖贮积症的症状。耳鼻喉科医生在多学科方法诊断和管理许多患有黏多糖贮积症(MPS)的儿童中应发挥不可或缺的作用。