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Corpus callosum involvement: a useful clue for differentiating Fabry Disease from Multiple Sclerosis
Sirio Cocozza1, Gaia Olivo2, Eleonora Riccio3
1Department of Advanced Biomedical Sciences, University "Federico II", Via Pansini, 5, 80131, Naples, Italy. siriococozza@hotmail.it.
Neuroradiology
|April 8, 2017
Summary
Multiple sclerosis (MS) and Fabry disease (FD) can appear similar on MRI scans. Corpus callosum (CC) lesions are rare in FD but common in MS, aiding in differential diagnosis.
Area of Science:
- Neurology
- Radiology
- Medical Imaging
Background:
- Multiple sclerosis (MS) and Fabry disease (FD) share overlapping clinical and radiological features, complicating differential diagnosis.
- The corpus callosum (CC) is a brain structure that can be affected in various neurological conditions.
Purpose of the Study:
- To investigate the involvement of the corpus callosum (CC) in patients with Fabry disease (FD) using magnetic resonance (MR) imaging.
- To determine if CC lesions can serve as a radiological marker to differentiate between FD and MS.
Main Methods:
- A multicentric retrospective study evaluated FLAIR MR images from 104 FD patients and 117 MS patients.
- The incidence of white matter lesions (WMLs) and specifically CC-WMLs was assessed in both groups.
- A subgroup of 37 FD patients with neurological symptoms was also analyzed.
Main Results:
- White matter lesions (WMLs) were present in 48.1% of FD patients and 100% of MS patients.
- Corpus callosum (CC) lesions were found in only 2.9% of FD patients versus 90.6% of MS patients.
- In FD patients with neurological symptoms, CC lesions were present in 5.4%.
Conclusions:
- Corpus callosum (CC) involvement on conventional MR imaging is significantly less frequent in FD compared to MS.
- The presence or absence of CC lesions on brain MR scans can be a valuable radiological sign for differentiating between MS and FD.
- Identifying CC lesions aids in rapid and accurate diagnosis, guiding appropriate treatment strategies.