粘多糖贮积症VI型,也被称为马托-拉米综合征,是一种常染色体隐性溶酶体疾病,由于缺乏酶芳基硫酸酯酶B,导致组织中硫酸皮肤素的积累及其尿排泄。粘多糖沉积导致影响多个器官的进行性疾病,其通常在年轻时导致死亡。这种疾病有几种口腔表现,其中牙齿并发症可能很严重,包括类似于牙囊囊肿的卵泡,错牙合,髁突缺损和牙龈增生,除了短脖子,角膜混浊,巨舌,头骨扩大,前后尺寸长,爪手是一些临床特征。介绍了一例14个月大的病人,他因发烧而参加了儿科牙科咨询,低重量,严重的牙龈增生。体格检查发现了粗糙的相,短脖子,漏斗胸,双手握力减少,神经发育迟缓.在口腔检查中,牙疹延迟,全身性牙龈增生,腭几乎横向生长。在射线照相检查中,包括牙齿器官和前部的不良位置,上颌窦内的上磨牙,旋转较低的犬齿。他被称为生化测试医学和遗传学诊断。详细的生物化学MPSVI型,通过分子测试证实。这种情况下的临床表现对应于这些患者报告的快速进展的临床形式。他们报告说:身材矮小,口腔水平的骨骼畸形和改变。患有严重MPSVI的儿童开始较早,进展迅速,骨X线片和尿液GAG测量有助于遗传和ARSB酶活性的诊断。有必要加强牙科和普通人群对VI型粘多糖临床特征的了解,以便对这些患者的病理进行早期诊断和管理。
Mucopolysaccharidosis type VI, also known as Maroteaux-Lamy syndrome, is an autosomal recessive lysosomal disorder, due to the deficiency of the enzyme arylsulfatase B that leads to the accumulation of dermatan sulfate in the tissues and its urinary excretion. Mucopolysaccharide deposition leads to a progressive disorder affecting multiple organs that often results in death at a young age. This disease has several oral manifestations, among which dental complications can be serious and include follicles similar to dentigerous cysts, malocclusions, condylar defects and gingival hyperplasia, in addition to a short neck, corneal opacity, macroglossia, skull enlargement, anteroposterior dimension long, claw hand is some of the clinical features. A case of a 14-month-old patient is presented, who attended a pediatric dentistry consultation for episodes of fever, low weight, severe gingival hyperplasia. Physical examination revealed coarse facies, short neck, pectus excavatus, hands with decreased grip, and neurodevelopmental delay. On intraoral examination, dental eruption delayed, generalized gingival hyperplasia, palate with little transverse growth. On radiographic examination, dental organs included and poor position in the anterior sector, upper molars within the maxillary sinus, rotated lower canines. He is referred to medicine for biochemical tests and genetics for diagnosis. Detailed biochemistry MPS type VI, confirmed by molecular testing. The clinical manifestations in this case correspond to the clinical form of rapid progression reported in these patients. They report: short stature, skeletal malformations and alterations at the oral level. Children with severe MPS VI start early and progress rapidly, bone radiographs and urine GAG measurement are helpful for diagnosis with genetic and ARSB enzyme activity. It is necessary to strengthen the knowledge in dentistry and the general population about the clinical characteristics of type VI mucopolysaccharides in order to have an early diagnosis and management of pathologies in these patients.