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

  • Diagnostic Neuroradiology
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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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Abbreviations

MS:

Multiple sclerosis

FD:

Fabry disease

CC:

Corpus callosum;

WMLs:

White matter lesions

eGFR:

Estimated glomerular filtration rate

CKD-EPI:

Chronic Kidney Disease Epidemiology Collaboration

GLA:

α-Galactosidase A

ERT:

Enzyme replacement therapy

DD:

Disease duration

EDSS:

Expanded Disability Status Scale

ARR:

Annualized Relapse Rate

MSSS:

Multiple Sclerosis Severity Score

CSF:

Cerebrospinal fluid

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Correspondence to Sirio Cocozza.

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Funding

No funding was received for the study.

Conflict of interest

AP has received reimbursement for attending symposiums, honorariums for speaking, funds for research and fees for consulting from Shire, Genzyme and Amicus companies.

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For this type of study formal consent is not required.

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Informed consent was previously obtained from all individual participants included in the study.

Additional information

ET and AP share senior authorship.

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Cocozza, S., Olivo, G., Riccio, E. et al. Corpus callosum involvement: a useful clue for differentiating Fabry Disease from Multiple Sclerosis. Neuroradiology 59, 563–570 (2017). https://doi.org/10.1007/s00234-017-1829-8

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  • DOI: https://doi.org/10.1007/s00234-017-1829-8

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