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
- high resolution
- case report
- healthcare
- young adults
- replacement therapy
- diffusion weighted imaging
- public health
- computed tomography
- primary care
- early onset
- single molecule
- stem cells
- dna methylation
- copy number
- solid state
- brain injury
- smoking cessation
- blood brain barrier
- sleep quality
- cell therapy