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Erschienen in: Neuroradiology 6/2017

06.04.2017 | Diagnostic Neuroradiology

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

verfasst von: 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

Erschienen in: Neuroradiology | Ausgabe 6/2017

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Abstract

Purpose

Multiple sclerosis (MS) has been proposed as a possible differential diagnosis for Fabry disease (FD). The aim of this work was to evaluate the involvement of corpus callosum (CC) on MR images and its possible role as a radiological sign to differentiate between FD and MS.

Methods

In this multicentric study, we retrospectively evaluated the presence of white matter lesions (WMLs) on the FLAIR images of 104 patients with FD and 117 patients with MS. The incidence of CC-WML was assessed in the two groups and also in a subgroup of 37 FD patients showing neurological symptoms.

Results

WMLs were detected in 50 of 104 FD patients (48.1%) and in all MS patients. However, a lesion in the CC was detected in only 3 FD patients (2.9%) and in 106 MS patients (90.6%). In the FD subgroup with neurological symptoms, WMLs were present in 26 of 37 patients (70.3%), with two subjects (5.4%) showing a definite callosal lesion.

Conclusion

FD patients have a very low incidence of CC involvement on conventional MR images compared to MS, independently from the clinical presentation and the overall degree of WM involvement. Evaluating the presence of CC lesions on brain MR scans can be used as a radiological sign for a differential diagnosis between MS and FD, rapidly addressing the physician toward a correct diagnosis and subsequent treatment options.
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Literatur
2.
Zurück zum Zitat Ishii S, Chang HH, Kawasaki K, Yasuda K, Wu HL, Garman SC, Fan JQ (2007) Mutant alpha-galactosidase A enzymes identified in Fabry disease patients with residual enzyme activity: biochemical characterization and restoration of normal intracellular processing by 1-deoxygalactonojirimycin. Biochem J 406(2):285–295. doi:10.1042/BJ20070479 PubMedPubMedCentralCrossRef Ishii S, Chang HH, Kawasaki K, Yasuda K, Wu HL, Garman SC, Fan JQ (2007) Mutant alpha-galactosidase A enzymes identified in Fabry disease patients with residual enzyme activity: biochemical characterization and restoration of normal intracellular processing by 1-deoxygalactonojirimycin. Biochem J 406(2):285–295. doi:10.​1042/​BJ20070479 PubMedPubMedCentralCrossRef
4.
7.
Zurück zum Zitat Filippi M, Rocca MA, Ciccarelli O, De Stefano N, Evangelou N, Kappos L, Rovira A, Sastre-Garriga J, Tintore M, Frederiksen JL, Gasperini C, Palace J, Reich DS, Banwell B, Montalban X, Barkhof F (2016) MRI criteria for the diagnosis of multiple sclerosis: MAGNIMS consensus guidelines. Lancet Neurol 15(3):292–303. doi:10.1016/S1474-4422(15)00393-2 PubMedPubMedCentralCrossRef Filippi M, Rocca MA, Ciccarelli O, De Stefano N, Evangelou N, Kappos L, Rovira A, Sastre-Garriga J, Tintore M, Frederiksen JL, Gasperini C, Palace J, Reich DS, Banwell B, Montalban X, Barkhof F (2016) MRI criteria for the diagnosis of multiple sclerosis: MAGNIMS consensus guidelines. Lancet Neurol 15(3):292–303. doi:10.​1016/​S1474-4422(15)00393-2 PubMedPubMedCentralCrossRef
11.
Zurück zum Zitat Garg N, Reddel SW, Miller DH, Chataway J, Riminton DS, Barnett Y, Masters L, Barnett MH, Hardy TA (2015) The corpus callosum in the diagnosis of multiple sclerosis and other CNS demyelinating and inflammatory diseases. J Neurol Neurosurg Psychiatry 86(12):1374–1382. doi:10.1136/jnnp-2014-309649 PubMed Garg N, Reddel SW, Miller DH, Chataway J, Riminton DS, Barnett Y, Masters L, Barnett MH, Hardy TA (2015) The corpus callosum in the diagnosis of multiple sclerosis and other CNS demyelinating and inflammatory diseases. J Neurol Neurosurg Psychiatry 86(12):1374–1382. doi:10.​1136/​jnnp-2014-309649 PubMed
13.
Zurück zum Zitat Callegaro D, Kaimen-Maciel DR (2006) Fabry’s disease as a differential diagnosis of MS. Int MS J 13(1):27–30PubMed Callegaro D, Kaimen-Maciel DR (2006) Fabry’s disease as a differential diagnosis of MS. Int MS J 13(1):27–30PubMed
14.
Zurück zum Zitat Vucic Lovrencic M, Radisic Biljak V, Bozicevic S, Prasek M, Pavkovic P, Knotek M (2012) Estimating glomerular filtration rate (GFR) in diabetes: the performance of MDRD and CKD-EPI equations in patients with various degrees of albuminuria. Clin Biochem 45(18):1694–1696. doi:10.1016/j.clinbiochem.2012.07.115 PubMedCrossRef Vucic Lovrencic M, Radisic Biljak V, Bozicevic S, Prasek M, Pavkovic P, Knotek M (2012) Estimating glomerular filtration rate (GFR) in diabetes: the performance of MDRD and CKD-EPI equations in patients with various degrees of albuminuria. Clin Biochem 45(18):1694–1696. doi:10.​1016/​j.​clinbiochem.​2012.​07.​115 PubMedCrossRef
15.
Zurück zum Zitat Polman CH, Reingold SC, Banwell B, Clanet M, Cohen JA, Filippi M, Fujihara K, Havrdova E, Hutchinson M, Kappos L, Lublin FD, Montalban X, O’Connor P, Sandberg-Wollheim M, Thompson AJ, Waubant E, Weinshenker B, Wolinsky JS (2011) Diagnostic criteria for multiple sclerosis: 2010 revisions to the McDonald criteria. Ann Neurol 69(2):292–302. doi:10.1002/ana.22366 PubMedPubMedCentralCrossRef Polman CH, Reingold SC, Banwell B, Clanet M, Cohen JA, Filippi M, Fujihara K, Havrdova E, Hutchinson M, Kappos L, Lublin FD, Montalban X, O’Connor P, Sandberg-Wollheim M, Thompson AJ, Waubant E, Weinshenker B, Wolinsky JS (2011) Diagnostic criteria for multiple sclerosis: 2010 revisions to the McDonald criteria. Ann Neurol 69(2):292–302. doi:10.​1002/​ana.​22366 PubMedPubMedCentralCrossRef
16.
Zurück zum Zitat Fazekas F, Enzinger C, Schmidt R, Grittner U, Giese AK, Hennerici MG, Huber R, Jungehulsing GJ, Kaps M, Kessler C, Martus P, Putaala J, Ropele S, Tanislav C, Tatlisumak T, Thijs V, von Sarnowski B, Norrving B, Rolfs A (2015) Brain magnetic resonance imaging findings fail to suspect Fabry disease in young patients with an acute cerebrovascular event. Stroke 46(6):1548–1553. doi:10.1161/STROKEAHA.114.008548 PubMedCrossRef Fazekas F, Enzinger C, Schmidt R, Grittner U, Giese AK, Hennerici MG, Huber R, Jungehulsing GJ, Kaps M, Kessler C, Martus P, Putaala J, Ropele S, Tanislav C, Tatlisumak T, Thijs V, von Sarnowski B, Norrving B, Rolfs A (2015) Brain magnetic resonance imaging findings fail to suspect Fabry disease in young patients with an acute cerebrovascular event. Stroke 46(6):1548–1553. doi:10.​1161/​STROKEAHA.​114.​008548 PubMedCrossRef
19.
Zurück zum Zitat Moore DF, Altarescu G, Barker WC, Patronas NJ, Herscovitch P, Schiffmann R (2003) White matter lesions in Fabry disease occur in ‘prior’ selectively hypometabolic and hyperperfused brain regions. Brain Res Bull 62(3):231–240PubMedCrossRef Moore DF, Altarescu G, Barker WC, Patronas NJ, Herscovitch P, Schiffmann R (2003) White matter lesions in Fabry disease occur in ‘prior’ selectively hypometabolic and hyperperfused brain regions. Brain Res Bull 62(3):231–240PubMedCrossRef
20.
22.
Zurück zum Zitat Horowitz AL, Kaplan RD, Grewe G, White RT, Salberg LM (1989) The ovoid lesion: a new MR observation in patients with multiple sclerosis. AJNR Am J Neuroradiol 10(2):303–305PubMed Horowitz AL, Kaplan RD, Grewe G, White RT, Salberg LM (1989) The ovoid lesion: a new MR observation in patients with multiple sclerosis. AJNR Am J Neuroradiol 10(2):303–305PubMed
23.
Zurück zum Zitat Becker J, Rolfs A, Karabul N, Berlit P, Kraemer M (2016) D313Y mutation in the differential diagnosis of white matter lesions: experiences from a multiple sclerosis outpatient clinic. Mult Scler. doi:10.1177/1352458516638747 PubMed Becker J, Rolfs A, Karabul N, Berlit P, Kraemer M (2016) D313Y mutation in the differential diagnosis of white matter lesions: experiences from a multiple sclerosis outpatient clinic. Mult Scler. doi:10.​1177/​1352458516638747​ PubMed
24.
Zurück zum Zitat Gregoire SM, Brown MM, Collas DM, Jacob P, Lachmann RH, Werring DJ (2009) Posterior circulation strokes without systemic involvement as the presenting feature of Fabry disease. J Neurol Neurosurg Psychiatry 80(12):1414–1416. doi:10.1136/jnnp.2008.158790 PubMedCrossRef Gregoire SM, Brown MM, Collas DM, Jacob P, Lachmann RH, Werring DJ (2009) Posterior circulation strokes without systemic involvement as the presenting feature of Fabry disease. J Neurol Neurosurg Psychiatry 80(12):1414–1416. doi:10.​1136/​jnnp.​2008.​158790 PubMedCrossRef
27.
30.
Zurück zum Zitat Fellgiebel A, Mazanek M, Whybra C, Beck M, Hartung R, Muller KM, Scheurich A, Dellani PR, Stoeter P, Muller MJ (2006) Pattern of microstructural brain tissue alterations in Fabry disease: a diffusion-tensor imaging study. J Neurol 253(6):780–787. doi:10.1007/s00415-006-0118-y PubMedCrossRef Fellgiebel A, Mazanek M, Whybra C, Beck M, Hartung R, Muller KM, Scheurich A, Dellani PR, Stoeter P, Muller MJ (2006) Pattern of microstructural brain tissue alterations in Fabry disease: a diffusion-tensor imaging study. J Neurol 253(6):780–787. doi:10.​1007/​s00415-006-0118-y PubMedCrossRef
31.
32.
Zurück zum Zitat Underhill HR, Golden-Grant K, Garrett LT, Uhrich S, Zielinski BA, Scott CR (2015) Detecting the effects of Fabry disease in the adult human brain with diffusion tensor imaging and fast bound-pool fraction imaging. J Magn Reson Imaging 42(6):1611–1622. doi:10.1002/jmri.24952 PubMedPubMedCentralCrossRef Underhill HR, Golden-Grant K, Garrett LT, Uhrich S, Zielinski BA, Scott CR (2015) Detecting the effects of Fabry disease in the adult human brain with diffusion tensor imaging and fast bound-pool fraction imaging. J Magn Reson Imaging 42(6):1611–1622. doi:10.​1002/​jmri.​24952 PubMedPubMedCentralCrossRef
33.
Zurück zum Zitat Simon JH, Li D, Traboulsee A, Coyle PK, Arnold DL, Barkhof F, Frank JA, Grossman R, Paty DW, Radue EW, Wolinsky JS (2006) Standardized MR imaging protocol for multiple sclerosis: consortium of MS centers consensus guidelines. AJNR Am J Neuroradiol 27(2):455–461PubMed Simon JH, Li D, Traboulsee A, Coyle PK, Arnold DL, Barkhof F, Frank JA, Grossman R, Paty DW, Radue EW, Wolinsky JS (2006) Standardized MR imaging protocol for multiple sclerosis: consortium of MS centers consensus guidelines. AJNR Am J Neuroradiol 27(2):455–461PubMed
35.
Zurück zum Zitat McDonald WI, Compston A, Edan G, Goodkin D, Hartung HP, Lublin FD, McFarland HF, Paty DW, Polman CH, Reingold SC, Sandberg-Wollheim M, Sibley W, Thompson A, van den Noort S, Weinshenker BY, Wolinsky JS (2001) Recommended diagnostic criteria for multiple sclerosis: guidelines from the international panel on the diagnosis of multiple sclerosis. Ann Neurol 50(1):121–127PubMedCrossRef McDonald WI, Compston A, Edan G, Goodkin D, Hartung HP, Lublin FD, McFarland HF, Paty DW, Polman CH, Reingold SC, Sandberg-Wollheim M, Sibley W, Thompson A, van den Noort S, Weinshenker BY, Wolinsky JS (2001) Recommended diagnostic criteria for multiple sclerosis: guidelines from the international panel on the diagnosis of multiple sclerosis. Ann Neurol 50(1):121–127PubMedCrossRef
36.
Zurück zum Zitat Hernández V, Morris Z, Dickie DA, Royle NA, Munoz Maniega S, Aribisala BS, Bastin ME, Deary IJ, Wardlaw JM (2012) Close correlation between quantitative and qualitative assessments of white matter lesions. Neuroepidemiology 40(1):13–22CrossRef Hernández V, Morris Z, Dickie DA, Royle NA, Munoz Maniega S, Aribisala BS, Bastin ME, Deary IJ, Wardlaw JM (2012) Close correlation between quantitative and qualitative assessments of white matter lesions. Neuroepidemiology 40(1):13–22CrossRef
Metadaten
Titel
Corpus callosum involvement: a useful clue for differentiating Fabry Disease from Multiple Sclerosis
verfasst von
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
Publikationsdatum
06.04.2017
Verlag
Springer Berlin Heidelberg
Erschienen in
Neuroradiology / Ausgabe 6/2017
Print ISSN: 0028-3940
Elektronische ISSN: 1432-1920
DOI
https://doi.org/10.1007/s00234-017-1829-8

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