Machnikowska-Sokołowska Magdalena, Myszczuk Aleksandra, Wieszała Emilia, Wieja-Błach Dominika, Jamroz Ewa, Paprocka Justyna
Department of Diagnostic Imaging, Radiology and Nuclear Medicine, Faculty of Medical Sciences in Katowice, Medical University of Silesia in Katowice, 40-547 Katowice, Poland.
Diagnostic Imaging and Interventional Radiology Centre, The Independent Public Clinical Hospital No 6, 40-752 Katowice, Poland.
Metabolites. 2023 Jan 31;13(2):209. doi: 10.3390/metabo13020209.
Mucopolysaccharidosis 1 (MPS 1) is a group of rare lysosomal genetic disorders resulting from the accumulation of undegraded glycosaminoglycans (GAGs) leading to multiorgan damage. Neurological symptoms vary from mild to severe. Neuroimaging-mainly magnetic resonance (MRI)-plays a crucial role in disease diagnosis and monitoring. Early diagnosis is of the utmost importance due to the necessity of an early therapy implementation. New imaging tools like MR spectroscopy (MRS), semiquantitative MRI analysis and applying scoring systems help substantially in MPS 1 surveillance. The presented analysis of neuroimaging manifestations is based on 5 children with MPS 1 and a literature review. The vigilance of the radiologist based on knowledge of neuroradiological patterns is highlighted.
黏多糖贮积症1型（MPS 1）是一组罕见的溶酶体遗传性疾病，由未降解的糖胺聚糖（GAGs）蓄积所致，可导致多器官损害。神经症状轻重不一。神经影像学检查——主要是磁共振成像（MRI）——在疾病诊断和监测中起着关键作用。由于需要尽早实施治疗，早期诊断至关重要。诸如磁共振波谱（MRS）、半定量MRI分析和应用评分系统等新的成像工具对MPS 1的监测有很大帮助。本文对神经影像学表现的分析基于5例MPS 1患儿并结合文献综述。强调了放射科医生基于神经放射学模式知识的警惕性。
