, Volume 59, Issue 6, pp 563–570 | Cite as

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

  • Sirio CocozzaEmail author
  • Gaia Olivo
  • Eleonora Riccio
  • Camilla Russo
  • Giuseppe Pontillo
  • Lorenzo Ugga
  • Silvia Migliaccio
  • Dario de Rosa
  • Sandro Feriozzi
  • Massimiliano Veroux
  • Yuri Battaglia
  • Daniela Concolino
  • Federico Pieruzzi
  • Antonino Tuttolomondo
  • Aurelio Caronia
  • Cinzia Valeria Russo
  • Roberta Lanzillo
  • Vincenzo Brescia Morra
  • Massimo Imbriaco
  • Arturo Brunetti
  • Enrico Tedeschi
  • Antonio Pisani
Diagnostic Neuroradiology



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.


MRI Corpus callosum Fabry disease Multiple sclerosis 



Multiple sclerosis


Fabry disease


Corpus callosum;


White matter lesions


Estimated glomerular filtration rate


Chronic Kidney Disease Epidemiology Collaboration


α-Galactosidase A


Enzyme replacement therapy


Disease duration


Expanded Disability Status Scale


Annualized Relapse Rate


Multiple Sclerosis Severity Score


Cerebrospinal fluid


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.

Ethical approval

For this type of study formal consent is not required.

Informed consent

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

Supplementary material

234_2017_1829_MOESM1_ESM.doc (20 kb)
ESM 1 (DOC 20.3 kb)


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Copyright information

© Springer-Verlag Berlin Heidelberg 2017

Authors and Affiliations

  • Sirio Cocozza
    • 1
    Email author
  • Gaia Olivo
    • 1
  • Eleonora Riccio
    • 2
  • Camilla Russo
    • 1
  • Giuseppe Pontillo
    • 1
  • Lorenzo Ugga
    • 1
  • Silvia Migliaccio
    • 2
  • Dario de Rosa
    • 1
  • Sandro Feriozzi
    • 3
  • Massimiliano Veroux
    • 4
  • Yuri Battaglia
    • 5
  • Daniela Concolino
    • 6
  • Federico Pieruzzi
    • 7
  • Antonino Tuttolomondo
    • 8
  • Aurelio Caronia
    • 9
  • Cinzia Valeria Russo
    • 10
  • Roberta Lanzillo
    • 10
  • Vincenzo Brescia Morra
    • 10
  • Massimo Imbriaco
    • 1
  • Arturo Brunetti
    • 1
  • Enrico Tedeschi
    • 1
  • Antonio Pisani
    • 2
  1. 1.Department of Advanced Biomedical SciencesUniversity “Federico II”NaplesItaly
  2. 2.Department of Public Health, Nephrology UnitUniversity “Federico II”NaplesItaly
  3. 3.Nephrology and Dialysis DepartmentBelcolle HospitalViterboItaly
  4. 4.Department of Medical and Surgical Sciences and Advanced TechnologiesUniversity Hospital of CataniaCataniaItaly
  5. 5.Department of Specialized Medicine, Division of Nephrology and DialysisSt. Anna Hospital-UniversityFerraraItaly
  6. 6.Department of PediatricsUniversity Magna GraeciaCatanzaroItaly
  7. 7.Nephrology UnitUniversity of Milano-BicoccaMilanItaly
  8. 8.Internal Medicine, DiBiMISUniversity of PalermoPalermoItaly
  9. 9.Triolo Zancia Care HomePalermoItaly
  10. 10.Department of Neurosciences and Reproductive and Odontostomatological SciencesUniversity “Federico II”NaplesItaly

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