Hirst Lorna, Abou-Ameira Gehan, Uudelepp Mari-Liis
Great Ormond Street Hospital, London, UK.
Case Rep Pediatr. 2021 Feb 16;2021:6611548. doi: 10.1155/2021/6611548. eCollection 2021.
Multiple sulfatase deficiency (MSD) (MIM # 272200) is an extraordinarily rare inborn error of metabolism (IEM). The phenotypic spectrum is largely heterogeneous and attributed to the combined effects of deficiencies in the nine sulfatases currently known to be related to human diseases. Systemic sequelae of MSD are vast and multisystemic, primarily encompassing developmental delay and neurological, cardiopulmonary, dermatological, gastroenterological, and skeletal manifestations. The dental phenotype is scarcely described in the literature due to a paucity of cases. Dental treatment under local and general anaesthesia mandates an integrated multidisciplinary approach to safeguard systemic health and optimise outcomes. This paper presents two siblings with multiple sulfatase deficiency who presented to the Paediatric Dental Department at Great Ormond Street Hospital, requiring comprehensive care under general anaesthesia for dental caries and trauma.
多种硫酸酯酶缺乏症（MSD）（MIM # 272200）是一种极其罕见的先天性代谢缺陷病（IEM）。其表型谱在很大程度上具有异质性，这归因于目前已知的与人类疾病相关的九种硫酸酯酶缺乏的综合影响。MSD的全身后遗症广泛且涉及多系统，主要包括发育迟缓以及神经、心肺、皮肤、胃肠和骨骼方面的表现。由于病例稀少，牙科表型在文献中鲜有描述。在局部和全身麻醉下进行牙科治疗需要综合多学科方法，以保障全身健康并优化治疗效果。本文介绍了两名患有多种硫酸酯酶缺乏症的兄弟姐妹，他们前往大奥蒙德街医院儿科牙科部门就诊，因龋齿和外伤需要在全身麻醉下接受全面治疗。
