Charlier Philippe, Germain Dominique P, Jeunemaître Xavier, Grassin-Delyle Stanislas, Alvarez Jean-Claude, de la Grandmaison Geoffroy Lorin
Department of Forensic Medicine and Pathology, University Hospital R. Poincaré (AP-HP, UVSQ), 104 R. Poincaré Boulevard, F-92380 Garches, France.
Leg Med (Tokyo). 2011 May;13(3):145-7. doi: 10.1016/j.legalmed.2010.12.004. Epub 2011 Jan 26.
This article describes the case of a sudden death in a 45-year-old female consecutive to acute and extensive arterial dissection in a context of Ehlers-Danlos syndrome type IV. The interest of this case report is that autopsy findings led to the suspicion of a clinical diagnosis prompting as carrying out a genetic testing which definitively confirms the diagnosis, opening the way to genetic council for family members. Criteria for this disease diagnosis and full methodology are described, that may help forensic practitioners.
