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Sudden death as a result of colon perforation; Ehlers-Danlos type IV case with postmortem diagnosis
- Source :
- Journal of Forensic and Legal Medicine. 73:101969
- Publication Year :
- 2020
- Publisher :
- Elsevier BV, 2020.
-
Abstract
- Ehlers-Danlos Syndrome (EDS) is a connective tissue disease with heterogeneous subgroups. In type IV EDS, also known as vascular EDS (VEDS), the underlying genetic anomaly consists of a mutation of the COL3A1 gene encoding the type III procollagen. As a result of the mutation, pathological findings due to excessive brittleness of the tubular organs or vessels occur. In our case, we present a patient with sudden death due to colon perforation which was diagnosed with EDS type IV after further examination in the autopsy. Forensic medicine experts should consider the possibility of EDS type IV after the detection of spontaneous ruptures in the internal organs during the autopsy. We think that it would be appropriate to report this autosomal dominant and potentially fatal condition to family members.
- Subjects :
- Postmortem Diagnosis
Spontaneous rupture
Pathology
medicine.medical_specialty
business.industry
Perforation (oil well)
Autopsy
General Medicine
medicine.disease
Connective tissue disease
Sudden death
Pathology and Forensic Medicine
Ehlers danlos
03 medical and health sciences
0302 clinical medicine
Medicine
030216 legal & forensic medicine
030212 general & internal medicine
business
Law
Pathological
Subjects
Details
- ISSN :
- 1752928X
- Volume :
- 73
- Database :
- OpenAIRE
- Journal :
- Journal of Forensic and Legal Medicine
- Accession number :
- edsair.doi...........4212422afefe75d09adc4271f16d1435