DOI QR코드

DOI QR Code

Comparing Initial Magnetic Resonance Imaging Findings to Differentiate between Krabbe Disease and Metachromatic Leukodystrophy in Children

  • Koh, Seok Young (Department of Radiology, Seoul National University Hospital) ;
  • Choi, Young Hun (Department of Radiology, Seoul National University Hospital) ;
  • Lee, Seul Bi (Department of Radiology, Seoul National University Hospital) ;
  • Lee, Seunghyun (Department of Radiology, Seoul National University Hospital) ;
  • Cho, Yeon Jin (Department of Radiology, Seoul National University Hospital) ;
  • Cheon, Jung-Eun (Department of Radiology, Seoul National University Hospital)
  • Received : 2020.12.25
  • Accepted : 2021.02.23
  • Published : 2021.06.30

Abstract

Purpose: To identify characteristic magnetic resonance imaging (MRI) features to differentiate between Krabbe disease and metachromatic leukodystrophy (MLD) in young children. Materials and Methods: We collected all confirmed cases of Krabbe disease and MLD between October 2004 and September 2020 at Seoul National University Children's Hospital. Patients with initial MRI available were included. Their initial MRIs were retrospectively reviewed for the following: 1) presence of white matter signal abnormality involving the periventricular and deep white matter, subcortical white matter, internal capsule, brainstem, and cerebellum; 2) presence of volume decrease and signal alteration in the corpus callosum and thalamus; 3) presence of the tigroid sign; 4) presence of optic nerve hypertrophy; and 5) presence of enhancement or diffusion restriction. Results: Eleven children with Krabbe disease and 12 children with MLD were included in this study. There was no significant difference in age or symptoms at onset. Periventricular and deep white matter signal alterations sparing the subcortical white matter were present in almost all patients of the two groups. More patients with Krabbe disease had T2 hyperintensities in the internal capsule and brainstem than patients with MLDs. In contrast, more patients with MLD had T2 hyperintensities in the splenium and genu of the corpus callosum. No patient with Krabbe disease showed T2 hyperintensity in the corpus callosal genu. A decrease in volume in the corpus callosum and thalamus was more frequently observed in patients with Krabbe disease than in those with MLD. Other MRI findings including the tigroid sign and optic nerve hypertrophy were not significantly different between the two groups. Conclusion: Signal abnormalities in the internal capsule and brainstem, decreased thalamic volume, decreased splenial volume accompanied by signal changes, and absence of signal changes in the callosal genu portion were MRI findings suggestive of Krabbe disease rather than MLD based on initial MRI. Other MRI findings such as the tigroid sign could not help differentiate between these two diseases.

Keywords

References

  1. Cheon JE, Kim IO, Hwang YS, et al. Leukodystrophy in children: a pictorial review of MR imaging features. Radiographics 2002;22:461-476 https://doi.org/10.1148/radiographics.22.3.g02ma01461
  2. Phelan JA, Lowe LH, Glasier CM. Pediatric neurodegenerative white matter processes: leukodystrophies and beyond. Pediatr Radiol 2008;38:729-749 https://doi.org/10.1007/s00247-008-0817-x
  3. Suzuki K. Globoid cell leukodystrophy (Krabbe's disease): update. J Child Neurol 2003;18:595-603 https://doi.org/10.1177/08830738030180090201
  4. Bonkowsky JL, Nelson C, Kingston JL, Filloux FM, Mundorff MB, Srivastava R. The burden of inherited leukodystrophies in children. Neurology 2010;75:718-725 https://doi.org/10.1212/WNL.0b013e3181eee46b
  5. Muthusamy K, Sudhakar SV, Thomas M, et al. Revisiting magnetic resonance imaging pattern of Krabbe disease - Lessons from an Indian cohort. J Clin Imaging Sci 2019;9:25 https://doi.org/10.25259/JCIS-18-2019
  6. Duffner PK, Jalal K, Carter RL. The Hunter's Hope Krabbe family database. Pediatr Neurol 2009;40:13-18 https://doi.org/10.1016/j.pediatrneurol.2008.08.011
  7. Helman G, Van Haren K, Escolar ML, Vanderver A. Emerging treatments for pediatric leukodystrophies. Pediatr Clin North Am 2015;62:649-666 https://doi.org/10.1016/j.pcl.2015.03.006
  8. Sakai N, Otomo T. Challenge of phenotype estimation for optimal treatment of Krabbe disease. J Neurosci Res 2016;94:1025-1030 https://doi.org/10.1002/jnr.23914
  9. Peters C, Charnas LR, Tan Y, et al. Cerebral X-linked adrenoleukodystrophy: the international hematopoietic cell transplantation experience from 1982 to 1999. Blood 2004;104:881-888 https://doi.org/10.1182/blood-2003-10-3402
  10. Kwon YW, Moon W-J, Park M, et al. Dynamic susceptibility contrast (DSC) perfusion MR in the prediction of long-term survival of glioblastomas (GBM): correlation with MGMT promoter methylation and 1p/19q deletions. Investig Magn Reson Imaging 2018;22:158-167 https://doi.org/10.13104/imri.2018.22.3.158
  11. Tutunji R, El Homsi M, Saaybi S, et al. Thalamic volume and dimensions on MRI in the pediatric population: normative values and correlations: (A cross sectional study). Eur J Radiol 2018;109:27-32 https://doi.org/10.1016/j.ejrad.2018.10.018
  12. Maresky HS, Ben Ely A, Bartischovsky T, et al. MRI measurements of the normal pediatric optic nerve pathway. J Clin Neurosci 2018;48:209-213 https://doi.org/10.1016/j.jocn.2017.11.015
  13. Loonen MC, Van Diggelen OP, Janse HC, Kleijer WJ, Arts WF. Late-onset globoid cell leucodystrophy (Krabbe's disease). Clinical and genetic delineation of two forms and their relation to the early-infantile form. Neuropediatrics 1985;16:137-142 https://doi.org/10.1055/s-2008-1052558
  14. Abdelhalim AN, Alberico RA, Barczykowski AL, Duffner PK. Patterns of magnetic resonance imaging abnormalities in symptomatic patients with Krabbe disease correspond to phenotype. Pediatr Neurol 2014;50:127-134 https://doi.org/10.1016/j.pediatrneurol.2013.10.001
  15. Farley TJ, Ketonen LM, Bodensteiner JB, Wang DD. Serial MRI and CT findings in infantile Krabbe disease. Pediatr Neurol 1992;8:455-458 https://doi.org/10.1016/0887-8994(92)90009-N
  16. Loes DJ, Peters C, Krivit W. Globoid cell leukodystrophy: distinguishing early-onset from late-onset disease using a brain MR imaging scoring method. AJNR Am J Neuroradiol 1999;20:316-323
  17. Eichler F, Grodd W, Grant E, et al. Metachromatic leukodystrophy: a scoring system for brain MR imaging observations. AJNR Am J Neuroradiol 2009;30:1893-1897 https://doi.org/10.3174/ajnr.A1739
  18. Kim TS, Kim IO, Kim WS, et al. MR of childhood metachromatic leukodystrophy. AJNR Am J Neuroradiol 1997;18:733-738
  19. Cousyn L, Law-Ye B, Pyatigorskaya N, et al. Brain MRI features and scoring of leukodystrophy in adult-onset Krabbe disease. Neurology 2019;93:e647-e652 https://doi.org/10.1212/wnl.0000000000007943
  20. Minagar A, Barnett MH, Benedict RH, et al. The thalamus and multiple sclerosis: modern views on pathologic, imaging, and clinical aspects. Neurology 2013;80:210-219 https://doi.org/10.1212/WNL.0b013e31827b910b
  21. Davenport A, Williamson P, Taylor R. Pathophysiology of Krabbe disease. Orbit 2011;2:1-20 https://doi.org/10.3109/01676838309019150
  22. van der Voorn JP, Pouwels PJ, Kamphorst W, et al. Histopathologic correlates of radial stripes on MR images in lysosomal storage disorders. AJNR Am J Neuroradiol 2005;26:442-446
  23. Poretti A, Meoded A, Bunge M, et al. Novel diffusion tensor imaging findings in Krabbe disease. Eur J Paediatr Neurol 2014;18:150-156 https://doi.org/10.1016/j.ejpn.2013.09.008