Mucopolysaccharidosis Type 1 among Children—Neuroradiological Perspective Based on Single Centre Experience and Literature Review
Magdalena Machnikowska-Sokołowska,
Aleksandra Myszczuk,
Emilia Wieszała,
Dominika Wieja-Błach,
Ewa Jamroz,
Justyna Paprocka
Affiliations
Magdalena Machnikowska-Sokołowska
Department of Diagnostic Imaging, Radiology and Nuclear Medicine, Faculty of Medical Sciences in Katowice, Medical University of Silesia in Katowice, 40-547 Katowice, Poland
Aleksandra Myszczuk
Diagnostic Imaging and Interventional Radiology Centre, The Independent Public Clinical Hospital No 6, 40-752 Katowice, Poland
Emilia Wieszała
Department of Pediatric Neurology, Faculty of Medical Sciences in Katowice, Medical University of Silesia in Katowice, 40-752 Katowice, Poland
Dominika Wieja-Błach
Diagnostic Imaging and Interventional Radiology Centre, The Independent Public Clinical Hospital No 6, 40-752 Katowice, Poland
Ewa Jamroz
Department of Pediatric Neurology, Faculty of Medical Sciences in Katowice, Medical University of Silesia in Katowice, 40-752 Katowice, Poland
Justyna Paprocka
Department of Pediatric Neurology, Faculty of Medical Sciences in Katowice, Medical University of Silesia in Katowice, 40-752 Katowice, Poland
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.
