title: Idiopathic infantile arterial calcification: a rare cause of sudden unexpected death in childhood.
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.
authors.affiliation: Institute of Molecular Pathology and Immunology, University of Porto (IPATIMUP), Porto, Portugal.
authors.forename: Susana
authors.initials: S
authors.lastname: Guimarães
authors.forename: José Manuel
authors.initials: JM
authors.lastname: Lopes
authors.forename: José Bessa
authors.initials: JB
authors.lastname: Oliveira
authors.forename: Agostinho
authors.initials: A
authors.lastname: Santos