Journal of Pediatric Care

Molecular Biology Becomes Diagnostic Tool in the Newborn Emergency Department: A Rare Case of Child Idiopathic Arterial Calcification

A Turkish infant of 96 days is accepted to the pediatric emergency room after being carried by their parents because of inconsolable crying, persistent cough, and difficulty in feeding during the previous day. Although she was aware and nor signs nor symptoms was suggestive of an impending MOF, in a few minutes it takes over an asystolic cardiac arrest. It was found the exitus after 75 minutes of resuscitation. The autopsy report indicates as pathological cause of death a rare form of childhood idiopathic calcific arterial disease caused by mutation of the gene encoding the same name EPP1 enzyme.

Author(s):

Andrea Borromini, Giorgio Rossi, Paola Maggi, Daniele Speciale, Giampaolo Mirri, Anna Cogliardi, Claudia Addis, Emanuele Dainese, Emanuela Bonoldi and Alessandro Marando

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