<- Home <- Arhive <- Vol. 25, Issue 1, March 2017

Rom J Leg Med25(1)31-36(2017)
© Romanian Society of Legal Medicine

Two deaths due to undiagnosed cerebral amyloid angiopathy and literature review

B. Ťažký, I. Komáreková, R. Rozboril, E. Nevická, M. Zdarílek, J. Šidlo

Abstract: Authors present two cases of sudden and unexpected death of the young siblings with the anamnesis of more unexplained deaths of their relatives (both parents) at the age around 30 years. The ordered autopsies revealed leptomeningeal and cerebrovascular form of hereditary cerebral amyloidosis associated even with extracranial organs involvement probably related to transthyretin mutation. We are not aware of the fact that more cases of similar family-related deaths have been noticed in everyday routine medico-legal autopsy practice in Slovakia. The authors would also like to emphasise the importance and necessity of proper autopsy ordering in cases of sudden and unexpected deaths of young no matter whether they showed previous neurological symptomatology and regardless of the fact if the deceased had been hospitalised or died at home. As Slovak workplaces of Pathological anatomy and Legal medicine of the Health Care Surveillance Authority do not have an opportunity to perform the definite genetic tests, we included a short literature review which supports our concluding diagnosis. Although the amyloid cerebral angiopathies are a rare pathological entity and our country does not belong among endemic European areas, our medical colleagues should think of the possibility of dealing with mentioned disease either in living patients or the deceased ones.
Keywords: hereditary amyloidosis, cerebral angiopathy, transtyretin mutation, sudden death.

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