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Mucopolysaccharidosis Type 1 among Children-Neuroradiological Perspective Based on Single Centre Experience and
Magdalena Machnikowska-Sokołowska1, Aleksandra Myszczuk2, Emilia Wieszała3
1Department of Diagnostic Imaging, Radiology and Nuclear Medicine, Faculty of Medical Sciences in Katowice, Medical University of Silesia in Katowice, 40-547 Katowice, Poland.
Abstract:
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.
