Literature DB >> 10460327

MRI appearances of metachromatic leukodystrophy.

E N Faerber1, J Melvin, E M Smergel.   

Abstract

BACKGROUND: The leukodystrophies constitute a wide spectrum of cerebral disorders of varying etiology. The imaging appearances on CT and MRI are recognizable as abnormalities of white matter; however, it may be impossible to arrive at the correct diagnosis based on imaging studies alone. PATIENTS AND METHODS: Three patients of varying age and clinical symptomatology diagnosed with metachromatic leukodystrophy (MLD) had remarkably similar MRI appearances. A "tigroid" or "leopard-skin" appearance was demonstrated within deep white matter in each case.
RESULTS: All of the patients had biochemical confirmation of MLD.
CONCLUSION: Although the "tigroid" pattern previously was considered to be pathognomonic of Pelizaeus-Merzbacher disease, the diagnosis of MLD must now be considered when these MRI appearances are encountered.

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Year:  1999        PMID: 10460327     DOI: 10.1007/s002470050672

Source DB:  PubMed          Journal:  Pediatr Radiol        ISSN: 0301-0449


  13 in total

Review 1.  Cerebral white matter: neuroanatomy, clinical neurology, and neurobehavioral correlates.

Authors:  Jeremy D Schmahmann; Eric E Smith; Florian S Eichler; Christopher M Filley
Journal:  Ann N Y Acad Sci       Date:  2008-10       Impact factor: 5.691

2.  Multiple cranial nerve enhancement: a new MR imaging finding in metachromatic leukodystrophy.

Authors:  Antonio C M Maia; Antônio J da Rocha; Carlos J da Silva; Sérgio Rosemberg
Journal:  AJNR Am J Neuroradiol       Date:  2007 Jun-Jul       Impact factor: 3.825

3.  Histopathologic correlates of radial stripes on MR images in lysosomal storage disorders.

Authors:  J Patrick van der Voorn; Petra J W Pouwels; Wout Kamphorst; James M Powers; Martin Lammens; Frederik Barkhof; Marjo S van der Knaap
Journal:  AJNR Am J Neuroradiol       Date:  2005-03       Impact factor: 3.825

4.  Metachromatic leukodystrophy: natural course of cerebral MRI changes in relation to clinical course.

Authors:  Samuel Groeschel; Christiane Kehrer; Corinna Engel; Christine I Dali; Annette Bley; Robert Steinfeld; Wolfgang Grodd; Ingeborg Krägeloh-Mann
Journal:  J Inherit Metab Dis       Date:  2011-06-23       Impact factor: 4.982

Review 5.  Diffusion-weighted MR imaging in leukodystrophies.

Authors:  Zoltan Patay
Journal:  Eur Radiol       Date:  2005-07-15       Impact factor: 5.315

6.  Rare Diseases in Glycosphingolipid Metabolism.

Authors:  Hongwen Zhou; Zhoulu Wu; Yiwen Wang; Qinyi Wu; Moran Hu; Shuai Ma; Min Zhou; Yan Sun; Baowen Yu; Jingya Ye; Wanzi Jiang; Zhenzhen Fu; Yingyun Gong
Journal:  Adv Exp Med Biol       Date:  2022       Impact factor: 2.622

Review 7.  Tools for diagnosis of leukodystrophies and other disorders presenting with white matter disease.

Authors:  Adeline Vanderver
Journal:  Curr Neurol Neurosci Rep       Date:  2005-03       Impact factor: 5.081

8.  Metachromatic leukodystrophy: diffusion MR imaging findings.

Authors:  R Nuri Sener
Journal:  AJNR Am J Neuroradiol       Date:  2002-09       Impact factor: 3.825

9.  Isolated cranial nerve enhancement in metachromatic leukodystrophy.

Authors:  Rani K Singh; Robert T Leshner; Nadja Kadom; Adeline L Vanderver
Journal:  Pediatr Neurol       Date:  2009-05       Impact factor: 3.372

10.  Metachromatic leukodystrophy: a scoring system for brain MR imaging observations.

Authors:  F Eichler; W Grodd; E Grant; M Sessa; A Biffi; A Bley; A Kohlschuetter; D J Loes; I Kraegeloh-Mann
Journal:  AJNR Am J Neuroradiol       Date:  2009-10-01       Impact factor: 3.825

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