Cáceres Matta Sandra Viviana, Carmona Arango Luis Eduardo
Grupo de Investigación PROMOUC, Programa de Odontología, Facultad Ciencias de la Salud de la Universidad del Sinú Seccional Cartagena. Cartagena, Colombia.
Grupo de Investigación PROMOUC, Posgrado de Odontopediatría y Ortopedia Maxilar, Facultad de Odontología de la Universidad de Cartagena. Cartagena, Colombia.
Rev Cient Odontol (Lima). 2021 Mar 11;9(1):e051. doi: 10.21142/2523-2754-0901-2021-051. eCollection 2021 Jan-Mar.
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.
VI型黏多糖贮积症，也称为马罗-拉米综合征，是一种常染色体隐性溶酶体疾病，由于芳基硫酸酯酶B缺乏，导致硫酸皮肤素在组织中蓄积并经尿液排出。黏多糖沉积导致一种进行性疾病，影响多个器官，常导致患者在年轻时死亡。该疾病有多种口腔表现，其中牙齿并发症可能很严重，包括类似含牙囊肿的滤泡、错牙合畸形、髁突缺损和牙龈增生，此外还有短颈、角膜混浊、巨舌、颅骨增大、前后径变长、爪形手等一些临床特征。本文介绍了一名14个月大的患者，因发热、体重低、严重牙龈增生到儿童牙科就诊。体格检查发现面容粗糙、短颈、漏斗胸、手部握力下降以及神经发育迟缓。口腔检查发现牙齿萌出延迟、广泛性牙龈增生、腭部横向生长不足。影像学检查显示牙器官存在且在前部区域位置不佳，上颌磨牙位于上颌窦内，下颌尖牙扭转。患者被转诊至内科进行生化检查，并转诊至遗传学部门进行诊断。详细的生化检查确诊为VI型黏多糖贮积症，经分子检测证实。该病例的临床表现与这些患者中报道的快速进展临床类型相符。报道称：身材矮小、骨骼畸形以及口腔层面的改变。重度VI型黏多糖贮积症患儿起病早且进展迅速，骨骼X线片和尿糖胺聚糖测量有助于通过基因和芳基硫酸酯酶B酶活性进行诊断。有必要加强牙科和普通人群对VI型黏多糖临床特征的认识，以便对这些患者的疾病进行早期诊断和管理。
