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VOLUME 5 , ISSUE 1-2 ( January-December, 2022 ) > List of Articles


Neuroradiological Characteristics in Patients with Mucopolysaccharidosis Type II: A Systematic Review

Yancarlos Ramos-Villegas, Loraine Quintana-Pájaro, Christian Meza-Valle, Mario Contreras-Arrieta, Huber Padilla-Zambrano, Tariq Janjua, Willem G Calderon-Miranda, Yelson A Picon-Jaimes, Julio Castillo-Blandino, Luis R Moscote-Salazar, Natalia Guevara-Moriones

Keywords : Diagnostic imaging, Hunter syndrome, Mucopolysaccharidosis II

Citation Information : Ramos-Villegas Y, Quintana-Pájaro L, Meza-Valle C, Contreras-Arrieta M, Padilla-Zambrano H, Janjua T, Calderon-Miranda WG, Picon-Jaimes YA, Castillo-Blandino J, Moscote-Salazar LR, Guevara-Moriones N. Neuroradiological Characteristics in Patients with Mucopolysaccharidosis Type II: A Systematic Review. Journal of Medical Academics 2022; 5 (1-2):12-19.

DOI: 10.5005/jp-journals-11003-0118

License: CC BY-NC 4.0

Published Online: 22-02-2023

Copyright Statement:  Copyright © 2022; The Author(s).


Introduction: Mucopolysaccharidosis (MPS) is an inherited metabolic disorder that is part of the lysosomal disorders; the main characteristic is the deficiency of lysosomal enzymes responsible for the degradation of glycosaminoglycans except for type II or Hunter syndrome, which is X-linked recessive inheritance. Neurological symptoms are Down syndrome, carpal tunnel, communicating hydrocephalus, spinal cord compression, and hearing loss. Neuroimaging plays a fundamental role in the diagnosis of central nervous system (CNS) involvement, as well as the assessment of complications such as hydrocephalus and spinal cord compression. Objective: To determine the characteristic findings of neuroimaging diagnostic aids in patients with MPS type II or Hunter's disease. Methodology: The recommendations of the Cochrane Collaboration [Preferred Reporting Items for Systematic Reviews and Meta-Analysis (PRISMA)] were followed. The bibliographic search was carried out in PubMed, Embase, Scopus, and ScienceDirect. Considering all the publications made up to 13th May 2018. Results and discussion: A total of 19 articles of the 723 results obtained were considered. Neuroradiological studies in patients with MPS type II still do not report clear and specific patterns of this pathology. Decreased contrast between the cortex and the underlying white matter has been reported; however, another study stated that these changes were secondary to demyelination or gliosis, manifestations that are not pathognomonic of MPS II. Ventricular dilatation is also a constant in patients with MPS II, which seems to be related to a cognitive disability; larger studies are still needed to confirm this association. Conclusion: Patients with MPS type II have a variety of abnormalities that are reflected in neuroradiological manifestations. The most significant findings of these patients included changes in gray and white matter signaling, cerebral atrophy, ventriculomegaly, increased perivascular space, increased subarachnoid space, and changes in the craniocervical junction. These characteristics must be strictly monitored both in the routine review and in the evaluation of responses to new therapeutic strategies.

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  1. Matsubara Y, Miyazaki O, Kosuga M, et al. Cerebral magnetic resonance findings during enzyme replacement therapy in mucopolysaccharidosis. Pediatr Radiol 2017;47(12):1659–1669. DOI: 10.1007/s00247-017-3935-5
  2. Reichert R, Campos LG, Vairo F, et al. Neuroimaging findings in patients with mucopolysaccharidosis: what you really need to know. RadioGraphics 2016;36(5):1448–1462. DOI: 10.1148/rg.2016150168
  3. Jiménez-Arredondo RE, Brambila-Tapia AJL, Mercado-Silva FM, et al. Association between brain structural anomalies, electroencephalogram and history of seizures in mucopolysaccharidosis type II (Hunter syndrome). Neurol Sci 2017;38(3):445–450. DOI: 10.1007/s10072-016-2788-2
  4. Whiteman DA, Kimura A. Development of idursulfase therapy for mucopolysaccharidosis type II (Hunter syndrome): the past, the present and the future. Drug Des Develop Ther 2017;11(2017):2467–2480. DOI: 10.2147/DDDT.S139601
  5. Yund B, Rudser K, Ahmed A, et al. Cognitive, medical, and neuroimaging characteristics of attenuated mucopolysaccharidosis type II. Mol Genet Metab 2015;114(2):170–177. DOI: 10.1016/j.ymgme.2014.12.299
  6. Zuber Z, Jurecka A, Jurkiewicz E, et al. Cervical spine MRI findings in patients with mucopolysaccharidosis type II. Pediatr Neurosurg 2015;50(1):26–30. DOI: 10.1159/000371658
  7. Seto T, Kono K, Morimoto K, et al. Brain magnetic resonance imaging in 23 patients with mucopolysaccharidoses and the effect of bone marrow transplantation. Ann Neurol 2001;50(1):79–92. DOI: 10.1002/ana.1098
  8. Matheus MG, Castillo M, Smith JK, et al. Brain MRI findings in patients with mucopolysaccharidosis types I and II and mild clinical presentation. Neuroradiology 2004;46(8):666–672. DOI: 10.1007/s00234-004-1215-1
  9. Davison JE, Hendriksz CJ, Sun Y, et al. Quantitative in vivo brain magnetic resonance spectroscopic monitoring of neurological involvement in mucopolysaccharidosis type II (Hunter Syndrome). J Inherit Metab Dis 2010;33(Suppl 3):S395–S399. DOI: 10.1007/s10545-010-9197-0
  10. De Cocker LJ, Hofkens PJ, Van den Bergh V, et al. Typical imaging features in Hunter's syndrome. JBR-BTR 2010;93(3):128–129. DOI: 10.5334/jbr-btr.199
  11. Manara R, Rampazzo A, Cananzi M, et al. Hunter syndrome in an 11-year old girl on enzyme replacement therapy with idursulfase: brain magnetic resonance imaging features and evolution. J Inherit Metab Dis 2010;33(Suppl 3):S67–S72. DOI: 10.1007/s10545-009-9023-8
  12. Shimoda-Matsubayashi S, Kuru Y, Sumie H, et al. MRI findings in the mild type of mucopolysaccharidosis II (Hunter's syndrome). Neuroradiol 1990;32(4):328–330. DOI: 10.1007/bf00593056
  13. Shinomiya N, Nagayama T, Fujioka Y, et al. MRI in the mild type of mucopolysaccharidosis II (Hunter's syndrome). Neuroradiol 1996;38(5):483–485. DOI: 10.1007/bf00607284
  14. Zafeiriou DI, Augoustidou-Savvopoulou PA, Papadopoulou FA, et al. Magnetic resonance imaging findings in mild mucopolysaccharidosis II (Hunter's syndrome). Eur J Paediatr Neurol 1998;2(3):153–156. DOI: 10.1016/s1090-3798(98)80031-7
  15. Vedolin L, Schwartz IVD, Komlos M, et al. Correlation of MR imaging and MR spectroscopy findings with cognitive impairment in mucopolysaccharidosis II. AJNR Am J Neuroradiol 2007;28(6):1029–1033. DOI: 10.3174/ajnr.A0510
  16. Iyer RS, Khanna PC. Intracranial findings of Hunter syndrome. Pediatr Radiol 2010;40(Suppl 1):S173. DOI: 10.1007/s00247-010-1825-1
  17. Manara R, Priante E, Grimaldi M, et al. Closed Meningo(encephalo)cele: a new feature in Hunter syndrome. AJNR Am J Neuroradiol 2012;33(5):873–877. DOI: 10.3174/ajnr.A2867
  18. Manara R, Priante E, Grimaldi M, et al. Brain and spine MRI features of Hunter disease: frequency, natural evolution and response to therapy. J Inherit Metab Dis 2011;34(3):763–780. DOI: 10.1007/s10545-011-9317-5
  19. Fan Z, Styner M, Muenzer J, et al. Correlation of automated volumetric analysis of brain MR imaging with cognitive impairment in a natural history study of mucopolysaccharidosis II. AJNR Am J Neuroradiol 2010;31(7):1319–1323. DOI: 10.3174/ajnr.A2032
  20. Parsons VJ, Hughes DG, Wraith JE. Magnetic resonance imaging of the brain, neck and cervical spine in mild Hunter's syndrome (mucopolysaccharidoses type II). Clin Radiol 1996;51(10):719–723. DOI: 10.1016/s0009-9260(96)80246-7
  21. de Camargo Pinto LL, Maluf SW, Leistner-Segal S, et al. Are MPS II heterozygotes actually asymptomatic? A study based on clinical and biochemical data, X-inactivation analysis and imaging evaluations. Am J Med Genet A 2011;155A(1):50–57. DOI: 10.1002/ajmg.a.33770
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