Corpus callosum involvement: a useful clue for differentiating Fabry Disease from Multiple Sclerosis
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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.
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.
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.
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.
KeywordsMRI Corpus callosum Fabry disease Multiple sclerosis
White matter lesions
Estimated glomerular filtration rate
Chronic Kidney Disease Epidemiology Collaboration
Enzyme replacement therapy
Expanded Disability Status Scale
Annualized Relapse Rate
Multiple Sclerosis Severity Score
Compliance with ethical standards
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.
For this type of study formal consent is not required.
Informed consent was previously obtained from all individual participants included in the study.
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