Mucopolysaccharidosis Type 1 among Children-Neuroradiological Perspective Based on Single Centre Experience and Literature Review.
Magdalena Dagmara Machnikowska-SokołowskaAleksandra MyszczukEmilia WieszałaDominika Wieja-BłachEwa JamrozJustyna PaprockaPublished in: Metabolites (2023)
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.
Keyphrases
- contrast enhanced
- magnetic resonance
- magnetic resonance imaging
- case report
- high resolution
- healthcare
- young adults
- replacement therapy
- public health
- diffusion weighted imaging
- primary care
- computed tomography
- early onset
- oxidative stress
- single molecule
- dna methylation
- mass spectrometry
- copy number
- cerebral ischemia
- subarachnoid hemorrhage
- data analysis
- solid state