Department of Imaging and Interventional Radiology, The Chinese University of Hong Kong, Prince of Wales Hospital, Ngan Shing St, Shatin, New Territories, Hong Kong.
Br J Radiol. 2011 May;84(1001):469-77. doi: 10.1259/bjr/59197814.
Mucopolysaccharidosis (MPS) is an inherited metabolic disorder of childhood, characterised by progressive multisystem involvement predominantly affecting the skeletal system leading to skeletal dysplasia. Mental retardation, neuropathy and cardiomyopathy may occur in the most severely affected patients, leading to progressive disability and death in their early third to fourth decades. The purpose of this paper is to illustrate the typical imaging features of different types of MPS, in particular the MR features of the brain and spine in MPS, which are expected to be encountered by radiologists more frequently in their clinical practice as a result of prolonged life expectancy for those with MPS with recent advances in therapeutic interventions. The treatment options and outcomes for MPS patients are also briefly discussed.
黏多糖贮积症（MPS）是一种儿童期遗传性代谢紊乱疾病，其特征为进行性多系统受累，主要影响骨骼系统，导致骨骼发育不良。智力迟钝、神经病和心肌病可能发生在病情最严重的患者中，导致他们在第三到第四十年的早期逐渐丧失能力和死亡。本文的目的是说明不同类型 MPS 的典型影像学特征，特别是 MPS 脑和脊柱的磁共振成像（MRI）特征，由于治疗干预的进展，MPS 患者的预期寿命延长，放射科医生在临床实践中更频繁地遇到这些特征。本文还简要讨论了 MPS 患者的治疗选择和结果。
