Literature DB >> 26915897

Thickening of the optic nerves in metachromatic leucodystrophy: A new MRI finding.

Dylan Roi1, Kshitij Mankad1, Marios Kaliakatsos1, Maureen Cleary1, Adnan Manzur1, Felice D'Arco2.   

Abstract

Krabbe's disease (KD) and metachromatic leucodystrophy (MLD) are both lysosomal storage disorders that share some common MRI features. Amongst the imaging findings useful to distinguish one from the other, optic chiasm/nerves thickening have been described as specific key features for differential diagnosis favouring KD. We report the first case of enlargement of the optic nerves and chiasm described in a patient with genetically confirmed MLD.
© The Author(s) 2016.

Entities:  

Keywords:  Krabbe’s disease; Metachromatic leucodystrophy; cranial nerves enhancement; lysosomal storage diseases; magnetic resonance imaging; optic nerves

Mesh：

Year:  2016        PMID： 26915897      PMCID： PMC4978318          DOI： 10.1177/1971400916633479

Source DB:  PubMed          Journal:  Neuroradiol J        ISSN： 1971-4009


  5 in total

1.  Enhancing cranial nerves and cauda equina: an emerging magnetic resonance imaging pattern in metachromatic leukodystrophy and krabbe disease.

Authors:  G Morana; R Biancheri; M Dirocco; M Filocamo; M G Marazzi; A Pessagno; A Rossi
Journal:  Neuropediatrics       Date:  2010-05-05       Impact factor: 1.947

Review 2.  Leukodystrophy in children: a pictorial review of MR imaging features.

Authors:  Jung-Eun Cheon; In-One Kim; Yong Seung Hwang; Ki Joong Kim; Kyu-Chang Wang; Byung-Kyu Cho; Je Geun Chi; Chong Jai Kim; Woo Sun Kim; Kyung Mo Yeon
Journal:  Radiographics       Date:  2002 May-Jun       Impact factor: 5.333

3.  Ocular findings in metachromatic leukodystrophy. An electron microscopic and enzyme study in different clinical and genetic variants.

Authors:  J Libert; F Van Hoof; D Toussaint; H Roozitalab; K R Kenyon; W R Green
Journal:  Arch Ophthalmol       Date:  1979-08

4.  Optic nerve enlargement in Krabbe's disease.

Authors:  B V Jones; T F Barron; J Towfighi
Journal:  AJNR Am J Neuroradiol       Date:  1999-08       Impact factor: 3.825

5.  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
  5 in total
  3 in total

Review 1.  Peripheral neuropathy in metachromatic leukodystrophy: current status and future perspective.

Authors:  Shanice Beerepoot; Stefan Nierkens; Jaap Jan Boelens; Caroline Lindemans; Marianna Bugiani; Nicole I Wolf
Journal:  Orphanet J Rare Dis       Date:  2019-11-04       Impact factor: 4.123

2.  Enlargement of the Optic Chiasm: A Novel Imaging Finding in Glutaric Aciduria Type 1.

Authors:  A A Ntorkou; J Daire; F Renaldo; D Doummar; M Alison; M Schiff; M Elmaleh-Bergès
Journal:  AJNR Am J Neuroradiol       Date:  2021-07-08       Impact factor: 4.966

Review 3.  Metachromatic Leukodystrophy: Diagnosis, Modeling, and Treatment Approaches.

Authors:  Alisa A Shaimardanova; Daria S Chulpanova; Valeriya V Solovyeva; Aysilu I Mullagulova; Kristina V Kitaeva; Cinzia Allegrucci; Albert A Rizvanov
Journal:  Front Med (Lausanne)       Date:  2020-10-20
  3 in total

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