Literature DB >> 25787193

Fabry disease mimicking multiple sclerosis: Lessons from two case reports.

S E Shribman1, A R F Shah2, D J Werring2, O C Cockerell3.   

Abstract

Fabry disease is an X-linked lysosomal storage disorder that can mimic multiple sclerosis. We present two cases of heterozygous adult women where clinical and radiological features initially suggested a diagnosis of multiple sclerosis. This led us to review the early clinical course and neurological features of Fabry disease and highlight the importance of assessing non-neurologic (systemic) symptoms when considering a diagnosis of multiple sclerosis and the need for specialist interpretation of neuroradiological findings.
Copyright © 2015 Elsevier B.V. All rights reserved.

Entities:  

Keywords:  Fabry disease; MRI; Multiple sclerosis

Mesh:

Year:  2015        PMID: 25787193     DOI: 10.1016/j.msard.2015.01.001

Source DB:  PubMed          Journal:  Mult Scler Relat Disord        ISSN: 2211-0348            Impact factor:   4.339


  8 in total

1.  Corpus callosum involvement: a useful clue for differentiating Fabry Disease from Multiple Sclerosis.

Authors:  Sirio Cocozza; Gaia Olivo; Eleonora Riccio; Camilla Russo; Giuseppe Pontillo; Lorenzo Ugga; Silvia Migliaccio; Dario de Rosa; Sandro Feriozzi; Massimiliano Veroux; Yuri Battaglia; Daniela Concolino; Federico Pieruzzi; Antonino Tuttolomondo; Aurelio Caronia; Cinzia Valeria Russo; Roberta Lanzillo; Vincenzo Brescia Morra; Massimo Imbriaco; Arturo Brunetti; Enrico Tedeschi; Antonio Pisani
Journal:  Neuroradiology       Date:  2017-04-06       Impact factor: 2.804

2.  The central vein sign helps in differentiating multiple sclerosis from its mimickers: lessons from Fabry disease.

Authors:  Mario Tranfa; Mario Tortora; Giuseppe Pontillo; Valentina Iuzzolino; Eleonora Riccio; Simona Caccavallo; Teodolinda Di Risi; Serena Monti; Roberta Lanzillo; Vincenzo Brescia Morra; Giuseppe Palma; Maria Petracca; Antonio Pisani; Arturo Brunetti; Sirio Cocozza
Journal:  Eur Radiol       Date:  2022-01-14       Impact factor: 5.315

Review 3.  Neuroimaging in Fabry disease: current knowledge and future directions.

Authors:  Sirio Cocozza; Camilla Russo; Giuseppe Pontillo; Antonio Pisani; Arturo Brunetti
Journal:  Insights Imaging       Date:  2018-11-02

4.  Stratification of patients with unclassified pain in the FabryScan database.

Authors:  Julia Forstenpointner; Paul Moeller; Manon Sendel; Maren Reimer; Philipp Hüllemann; Ralf Baron
Journal:  J Pain Res       Date:  2019-07-23       Impact factor: 3.133

5.  MRI-visible perivascular spaces as an imaging biomarker in Fabry disease.

Authors:  D Lyndon; I Davagnanam; D Wilson; F Jichi; A Merwick; F Bolsover; H R Jager; L Cipolotti; C Wheeler-Kingshott; D Hughes; E Murphy; R Lachmann; D J Werring
Journal:  J Neurol       Date:  2020-10-19       Impact factor: 4.849

6.  Neuroradiological differentiation of white matter lesions in patients with multiple sclerosis and Fabry disease.

Authors:  Jakob Rath; Olivia Foesleitner; Lukas Haider; Hubert Bickel; Fritz Leutmezer; Stephan Polanec; Michael A Arnoldner; Gere Sunder-Plassmann; Daniela Prayer; Thomas Berger; Paulus Rommer; Gregor Kasprian
Journal:  Orphanet J Rare Dis       Date:  2022-02-05       Impact factor: 4.123

7.  Fabry disease and multiple sclerosis misdiagnosis: the role of family history and neurological signs.

Authors:  Alessandro Burlina; Giovanni Duro; Paolo Colomba; Carmela Zizzo; Riccardo Alessandro; Giuseppe Cammarata; Simone Scalia; Antonello Giordano; Maurizio Pieroni; Luigi Sicurella; Luisa Amico
Journal:  Oncotarget       Date:  2018-01-05

8.  RECURRENT ATYPICAL OPTIC NEURITIS AS THE LEADING SIGN OF FABRY DISEASE.

Authors:  Iris Zavoreo; Miljenka Jelena Jurašić; Marijana Lisak; Ana Jadrijević Tomas; Ognjen Zrinščak; Vanja Bašić Kes
Journal:  Acta Clin Croat       Date:  2019-09       Impact factor: 0.780

  8 in total

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