Citation

Hamonet C, Frédy D, Lefevre JH, Bourgeois-Gironde S, Zeitoun JD. Orphanet J. Rare Dis. 2016; 11(1): 45.

Affiliation

Department of Proctology, Croix Saint-Simon Hospital, Paris, France. jdzeitoun@yahoo.fr.

Copyright

(Copyright © 2016, Holtzbrinck Springer Nature Publishing Group - BMC)

DOI

10.1186/s13023-016-0428-9

PMID

27102338

PMCID

PMC4840856

Abstract

BACKGROUND: The role of physical trauma in the onset of symptoms in Ehlers-Danlos syndrome (EDS) has never been characterized. We sought to search and describe brain lesions EDS patients also having personal history of physical trauma. We systematically performed brain magnetic resonance imaging in a first cohort of patients with a hypermobility type of EDS which described the onset of their disease or its worsening after a physical trauma. Unexpected yet consistent findings that were thought to be related to the reported traumas led to perform brain imaging in all subsequent patients with similar symptoms regardless of a history of trauma and to search for a prior trauma by active questioning.

RESULTS: Fifty-nine patients were recruited and analyzed, among which 53 (89.8 %) were women. Overall, 26 (44.1 %) reported a personal history of physical trauma. Six signs pertaining to subcortical lesions and affecting white matter tracts were identified. Those included lesions of the reticular formation, the two lenticular nuclei, the corpus callosum and the arcuate fasciculus. Thirty-six patients (61.0 %) had at least 5 of the 6 imaging signs. In case of a trauma before 18, patients had significantly more lesions of the reticular formation (100 % vs. 50 %; p = 0.0035).

CONCLUSIONS: Patients with EDS, hypermobility type, were found to have consistent and specific brain lesions involving white matter tracts. Moreover, the record of a physical trauma in a substantial proportion of cases suggests that these lesions could be post-trauma consequences. Therefore, physical trauma could be a triggering factor in EDS.

Language: en