Abstract
An: 2017, Nr.4, Articol Nr. 13
Title: 

MACROSCOPIC ASPECTS IN ALKAPTONURIA COMPLICATED IN EVOLUTION WITH MYOCARDIAL INFARCTION AND CARDIAC TAMPONADE

Authors: 

      Mădălina Maria Diac, Sofia David, Diana Bulgaru Iliescu, A. Knieling - Forensic Institute, Iaşi; “Gr.T. Popa” University of Medicine and Pharmacy, Iaşi, Faculty of Medicine, Department of Preventive Medicine and Interdisciplinarity, Discipline of Forensic Medicine
      C.I. Stan - “Gr.T. Popa” University of Medicine and Pharmacy, Iaşi, Faculty of Medicine, Department of Morpho-Functional Sciences I, Discipline of Anatomy
      A. Knieling - Forensic Institute, Iaşi
      MACROSCOPIC ASPECTS IN ALKAPTONURIA COMPLICATED IN EVOLUTION WITH MYOCARDIAL INFARCTION AND CARDIAC TAMPONADE (Abstract): Alkaptonuria is a rare metabolic disease in clinical medicine, with autosomal recessive genetic character, with a prevalence of 1 case to 250000-1000000 births, presenting itself in three clinical forms with symptoms ranging from homocysteic acid elimination with no other clinical sign, to ochronotic osteoarthropathy. In the clinical picture, excretion of homogentisic acid in urine remained the only pathological sign for decades. Meanwhile in the body of the patients with alkaptonuria, the process taking place are much more serious from both pathological and clinical point of view. The body present deposits of homogentisic acid and its derivatives in some tissues, which causes their discoloration and, therefore, tissues contain homogentisic acid and its oxidative polymer, a pigment who has typical yellow-brown or even black color. Most commonly, in medical literature, alkaptonuria is associated with cardiovascular abnormalities. The authors present the case of a 55-year-old female whose autopsy revealed color modifications of most tissues and organs and, also, associated cardiovascular alterations.
Key words: AUTOPSY, ALKAPTONURIA, OCHRONOTIC MODIFICATIONS
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