title: Corpus callosum involvement: a useful clue for differentiating Fabry Disease from Multiple Sclerosis.
abstract: OBJECTIVE
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Advanced Biomedical Sciences, University "Federico II", Via Pansini, 5, 80131, Naples, Italy. siriococozza@hotmail.it.
authors.forename: Sirio
authors.initials: S
authors.lastname: Cocozza
authors.affiliation: Department of Advanced Biomedical Sciences, University "Federico II", Via Pansini, 5, 80131, Naples, Italy.
authors.forename: Gaia
authors.initials: G
authors.lastname: Olivo
authors.affiliation: Department of Public Health, Nephrology Unit, University "Federico II", Naples, Italy.
authors.forename: Eleonora
authors.initials: E
authors.lastname: Riccio
authors.affiliation: Department of Advanced Biomedical Sciences, University "Federico II", Via Pansini, 5, 80131, Naples, Italy.
authors.forename: Camilla
authors.identifier: http://orcid.org/0000-0002-2256-7281
authors.initials: C
authors.lastname: Russo
authors.affiliation: Department of Advanced Biomedical Sciences, University "Federico II", Via Pansini, 5, 80131, Naples, Italy.
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Pontillo
authors.affiliation: Department of Advanced Biomedical Sciences, University "Federico II", Via Pansini, 5, 80131, Naples, Italy.
authors.forename: Lorenzo
authors.initials: L
authors.lastname: Ugga
authors.affiliation: Department of Public Health, Nephrology Unit, University "Federico II", Naples, Italy.
authors.forename: Silvia
authors.initials: S
authors.lastname: Migliaccio
authors.affiliation: Department of Advanced Biomedical Sciences, University "Federico II", Via Pansini, 5, 80131, Naples, Italy.
authors.forename: Dario
authors.initials: D
authors.lastname: de Rosa
authors.affiliation: Nephrology and Dialysis Department, Belcolle Hospital, Viterbo, Italy.
authors.forename: Sandro
authors.initials: S
authors.lastname: Feriozzi
authors.affiliation: Department of Medical and Surgical Sciences and Advanced Technologies, University Hospital of Catania, Catania, Italy.
authors.forename: Massimiliano
authors.initials: M
authors.lastname: Veroux
authors.affiliation: Department of Specialized Medicine, Division of Nephrology and Dialysis, St. Anna Hospital-University, Ferrara, Italy.
authors.forename: Yuri
authors.initials: Y
authors.lastname: Battaglia
authors.affiliation: Department of Pediatrics, University Magna Graecia, Catanzaro, Italy.
authors.forename: Daniela
authors.initials: D
authors.lastname: Concolino
authors.affiliation: Nephrology Unit, University of Milano-Bicocca, Milan, Italy.
authors.forename: Federico
authors.initials: F
authors.lastname: Pieruzzi
authors.affiliation: Internal Medicine, DiBiMIS, University of Palermo, Palermo, Italy.
authors.forename: Antonino
authors.initials: A
authors.lastname: Tuttolomondo
authors.affiliation: Triolo Zancia Care Home, Palermo, Italy.
authors.forename: Aurelio
authors.initials: A
authors.lastname: Caronia
authors.affiliation: Department of Neurosciences and Reproductive and Odontostomatological Sciences, University "Federico II", Naples, Italy.
authors.forename: Cinzia Valeria
authors.initials: CV
authors.lastname: Russo
authors.affiliation: Department of Neurosciences and Reproductive and Odontostomatological Sciences, University "Federico II", Naples, Italy.
authors.forename: Roberta
authors.initials: R
authors.lastname: Lanzillo
authors.affiliation: Department of Neurosciences and Reproductive and Odontostomatological Sciences, University "Federico II", Naples, Italy.
authors.forename: Vincenzo
authors.initials: V
authors.lastname: Brescia Morra
authors.affiliation: Department of Advanced Biomedical Sciences, University "Federico II", Via Pansini, 5, 80131, Naples, Italy.
authors.forename: Massimo
authors.initials: M
authors.lastname: Imbriaco
authors.affiliation: Department of Advanced Biomedical Sciences, University "Federico II", Via Pansini, 5, 80131, Naples, Italy.
authors.forename: Arturo
authors.initials: A
authors.lastname: Brunetti
authors.affiliation: Department of Advanced Biomedical Sciences, University "Federico II", Via Pansini, 5, 80131, Naples, Italy.
authors.forename: Enrico
authors.initials: E
authors.lastname: Tedeschi
authors.affiliation: Department of Public Health, Nephrology Unit, University "Federico II", Naples, Italy.
authors.forename: Antonio
authors.initials: A
authors.lastname: Pisani
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D003337:Corpus Callosum / Q000000981:diagnostic imaging* / Q000473:pathology; D003937:Diagnosis, Differential; D000795:Fabry Disease / Q000000981:diagnostic imaging* / Q000473:pathology; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000379:methods*; D008297:Male; D008875:Middle Aged; D009103:Multiple Sclerosis / Q000000981:diagnostic imaging* / Q000473:pathology; D012189:Retrospective Studies
keywords: Corpus callosum; Fabry disease; MRI; Multiple sclerosis