Sirio Cocozza1, Gaia Olivo2, Eleonora Riccio3, Camilla Russo2, Giuseppe Pontillo2, Lorenzo Ugga2, Silvia Migliaccio3, Dario de Rosa2, Sandro Feriozzi4, Massimiliano Veroux5, Yuri Battaglia6, Daniela Concolino7, Federico Pieruzzi8, Antonino Tuttolomondo9, Aurelio Caronia10, Cinzia Valeria Russo11, Roberta Lanzillo11, Vincenzo Brescia Morra11, Massimo Imbriaco2, Arturo Brunetti2, Enrico Tedeschi2, Antonio Pisani3. 1. Department of Advanced Biomedical Sciences, University "Federico II", Via Pansini, 5, 80131, Naples, Italy. siriococozza@hotmail.it. 2. Department of Advanced Biomedical Sciences, University "Federico II", Via Pansini, 5, 80131, Naples, Italy. 3. Department of Public Health, Nephrology Unit, University "Federico II", Naples, Italy. 4. Nephrology and Dialysis Department, Belcolle Hospital, Viterbo, Italy. 5. Department of Medical and Surgical Sciences and Advanced Technologies, University Hospital of Catania, Catania, Italy. 6. Department of Specialized Medicine, Division of Nephrology and Dialysis, St. Anna Hospital-University, Ferrara, Italy. 7. Department of Pediatrics, University Magna Graecia, Catanzaro, Italy. 8. Nephrology Unit, University of Milano-Bicocca, Milan, Italy. 9. Internal Medicine, DiBiMIS, University of Palermo, Palermo, Italy. 10. Triolo Zancia Care Home, Palermo, Italy. 11. Department of Neurosciences and Reproductive and Odontostomatological Sciences, University "Federico II", Naples, Italy.
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.
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 FDpatients showing neurological symptoms. RESULTS: WMLs were detected in 50 of 104 FDpatients (48.1%) and in all MS patients. However, a lesion in the CC was detected in only 3 FDpatients (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:FDpatients 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.
Entities:
Keywords:
Corpus callosum; Fabry disease; MRI; Multiple sclerosis
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