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Pathology Research International
Volume 2010 (2010), Article ID 185314, 5 pages
http://dx.doi.org/10.4061/2010/185314
Case Report

Idiopathic Infantile Arterial Calcification: A Rare Cause of Sudden Unexpected Death in Childhood

1Institute of Molecular Pathology and Immunology, University of Porto (IPATIMUP), Porto, Portugal
2Department of Pathology, Hospital de São João, Porto, Portugal
3Medical Faculty, University of Porto, Porto, Portugal
4Legal Medicine Institute, North Delegation, Porto, Portugal
5Abel Salazar Institute of Medical Sciences (ICBAS), University of Porto, Porto, Portugal

Received 8 November 2009; Revised 3 March 2010; Accepted 17 June 2010

Academic Editor: Jan G. van den Tweel

Copyright © 2010 Susana Guimarães et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

Unexpected child death investigation is a difficult area of forensic practice in view of the wide range of possible genetic, congenital, and acquired natural and nonnatural causes. Idiopathic infantile arterial calcification (IIAC) is a rare autosomic recessive disease usually diagnosed postmortem. Inactivating mutations of the ENPP1 gene were described in 80% of the cases with IIAC. We report a case of a 5-year-old girl submitted to a forensic autopsy due to sudden death and possible medical negligence/parents child abuse. Major alterations found (intimal proliferation and deposition of calcium hydroxyapatite around the internal elastic lamina and media of arteries; acute myocardial infarct, stenotic and calcified coronary artery; perivascular and interstitial myocardial fibrosis; and subendocardial fibroelastosis) were diagnostic of IIAC. We reviewed IIAC cases published in the English literature and highlight the importance of adequate autopsy evaluation in cases of sudden child death.