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

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. 1. Introduction Idiopathic infantile arterial calcification (IIAC) is a rare autosomic recessive disease (OMIM 208000) usually diagnosed postmortem. The reported cases in the literature are about 200, with 85% of the patients diagnosed in infancy and dying before 6 months of age due to the difficulty of an early diagnosis and the lack of a curative treatment [1]. So far, there are only eleven long-term survivors (survival 6 months) reported in literature [1], having three of these diagnosed during childhood. The sudden death of a child may raise medical negligence and parents child abuse suspicions, inasmuch as these latter deaths are less common than those attributed to sudden infant death syndrome (SIDS). We aim to report one case of IIAC and discuss the implications of this rare cause of sudden childhood death. 2. Case Report A five-year-old female child, without any relevant personal past medical or familial history, presented with vomits and anorexia, without fever or diarrhoea, in the last 24 hours. She was diagnosed as having tonsillitis by the family doctor and was medicated accordingly. A few hours later she had a syncope episode associated with facial cyanosis and incontinence that lasted about 10 minutes, and was admitted to the Hospital. On admission, she was conscious, hemodynamically stable, tachypneic, tachycardic, and with low fever and facial petechiae. The electrocardiography showed sinusal tachycardia and frequent extrasystoles. Chest X-ray showed radiological features consistent with congestive heart failure. Routine analytic results were within