{"title":"马罗托-拉米综合征(粘多糖病 VI)伴下颌骨冠状突和髁状突异常:一例手术干预病例的报告","authors":"","doi":"10.1016/j.ajoms.2024.04.012","DOIUrl":null,"url":null,"abstract":"<div><p>Maroteaux-Lamy syndrome (mucopolysaccharidoses VI) is a rare genetic disease results in functional deficiency of arylsulfatase B<span><span> and accumulation of dermatan sulfate<span><span> within lysosomes in various tissues. Here we present an 8-year-old male who was referred for treatment of limited mouth opening. The patient had been diagnosed with </span>mucopolysaccharidoses<span> VI at age of 6 months. He had received bone marrow transplantation at age of 3.5 years, developed graft-versus-host disease and subsequent vitiligo-like changes. The patient presented with short stature, and some </span></span></span>skeletal anomalies<span><span>. In radiographic images bilateral hyperplasia of the coronoid process, underdeveloped condyles, and dentigerous cyst-like follicles in the jaws were noted. Bilateral coronoidectomy was performed to improve the maximum opening of the mouth. Post-op follow-up examinations in 5 years showed moderate improvement. Abnormal coronoid and </span>condylar processes are unusual in MPS VI. Proper management is needed to improve patients’ oral and general health for the remainder of their lives.</span></span></p></div>","PeriodicalId":45034,"journal":{"name":"Journal of Oral and Maxillofacial Surgery Medicine and Pathology","volume":null,"pages":null},"PeriodicalIF":0.4000,"publicationDate":"2024-04-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Maroteaux-lamy syndrome (mucopolysaccharidosis VI) with abnormal coronoid and condylar processes of the mandible: Report of a case with surgical intervention\",\"authors\":\"\",\"doi\":\"10.1016/j.ajoms.2024.04.012\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><p>Maroteaux-Lamy syndrome (mucopolysaccharidoses VI) is a rare genetic disease results in functional deficiency of arylsulfatase B<span><span> and accumulation of dermatan sulfate<span><span> within lysosomes in various tissues. Here we present an 8-year-old male who was referred for treatment of limited mouth opening. The patient had been diagnosed with </span>mucopolysaccharidoses<span> VI at age of 6 months. He had received bone marrow transplantation at age of 3.5 years, developed graft-versus-host disease and subsequent vitiligo-like changes. The patient presented with short stature, and some </span></span></span>skeletal anomalies<span><span>. In radiographic images bilateral hyperplasia of the coronoid process, underdeveloped condyles, and dentigerous cyst-like follicles in the jaws were noted. Bilateral coronoidectomy was performed to improve the maximum opening of the mouth. Post-op follow-up examinations in 5 years showed moderate improvement. Abnormal coronoid and </span>condylar processes are unusual in MPS VI. Proper management is needed to improve patients’ oral and general health for the remainder of their lives.</span></span></p></div>\",\"PeriodicalId\":45034,\"journal\":{\"name\":\"Journal of Oral and Maxillofacial Surgery Medicine and Pathology\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":0.4000,\"publicationDate\":\"2024-04-23\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of Oral and Maxillofacial Surgery Medicine and Pathology\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S2212555824000668\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"DENTISTRY, ORAL SURGERY & MEDICINE\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Oral and Maxillofacial Surgery Medicine and Pathology","FirstCategoryId":"1085","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S2212555824000668","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"DENTISTRY, ORAL SURGERY & MEDICINE","Score":null,"Total":0}
引用次数: 0
摘要
Maroteaux-Lamy 综合征(粘多糖病 VI)是一种罕见的遗传性疾病,会导致芳基硫酸酯酶 B 功能性缺乏,并在各种组织的溶酶体中积累硫酸皮质酯。我们在此介绍一名因张口受限而转诊治疗的 8 岁男性患者。患者在 6 个月大时被诊断出患有粘多糖病 VI。他在 3.5 岁时接受了骨髓移植,后来患上了移植物抗宿主病,并出现了白癜风样改变。患者表现为身材矮小和一些骨骼异常。放射影像显示,患者双侧冠状突增生,髁状突发育不全,下颌有齿状囊肿样滤泡。为了改善口腔的最大张开度,医生对他进行了双侧冠状突切除术。术后5年的随访检查显示病情有适度改善。冠状突和髁突异常在 MPS VI 中并不常见。需要进行适当的治疗,以改善患者余生的口腔和全身健康状况。
Maroteaux-lamy syndrome (mucopolysaccharidosis VI) with abnormal coronoid and condylar processes of the mandible: Report of a case with surgical intervention
Maroteaux-Lamy syndrome (mucopolysaccharidoses VI) is a rare genetic disease results in functional deficiency of arylsulfatase B and accumulation of dermatan sulfate within lysosomes in various tissues. Here we present an 8-year-old male who was referred for treatment of limited mouth opening. The patient had been diagnosed with mucopolysaccharidoses VI at age of 6 months. He had received bone marrow transplantation at age of 3.5 years, developed graft-versus-host disease and subsequent vitiligo-like changes. The patient presented with short stature, and some skeletal anomalies. In radiographic images bilateral hyperplasia of the coronoid process, underdeveloped condyles, and dentigerous cyst-like follicles in the jaws were noted. Bilateral coronoidectomy was performed to improve the maximum opening of the mouth. Post-op follow-up examinations in 5 years showed moderate improvement. Abnormal coronoid and condylar processes are unusual in MPS VI. Proper management is needed to improve patients’ oral and general health for the remainder of their lives.