title: [Molecular biology as a diagnostic tool in the newborn Emergency department: a rare case of idiopathic infantile arterial calcification].
abstract: A Turkish female infant of 96 days was admitted to the pediatric emergency room because of inconsolable crying, persistent cough, and difficulty in feeding during the previous day. She was conscious and did not show any signs or symptoms of multiorgan failure. A few minutes afterwards, the child experienced cardiac arrest with an initial cardiac rhythm of asystole and died 75 minutes later following cardiopulmonary resuscitation maneuvers. As the pathological cause of death, autopsy findings revealed a rare type of idiopathic infantile arterial calcification resulting from a mutation in the gene encoding for the ENPP1 enzyme.
authors.affiliation: Divisione di Anestesia e Rianimazione, Dipartimento di Emergenza e Urgenza.
authors.forename: Andrea
authors.initials: A
authors.lastname: Borromini
authors.affiliation: Divisione di Anatomia Patologica, Dipartimento di Medicina di Laboratorio.
authors.forename: Giorgio
authors.initials: G
authors.lastname: Rossi
authors.affiliation: Divisione di Pediatria, Dipartimento Materno-Infantile.
authors.forename: Paola
authors.initials: P
authors.lastname: Maggi
authors.affiliation: Divisione di Anestesia e Rianimazione, Dipartimento di Emergenza e Urgenza.
authors.forename: Daniele
authors.initials: D
authors.lastname: Speciale
authors.affiliation: Divisione di Neonatologia e Terapia Intensiva Neonatale, Dipartimento Materno-Infantile, Ospedale Alessandro Manzoni di Lecco.
authors.forename: Gianpaolo
authors.initials: G
authors.lastname: Mirri
authors.affiliation: Divisione di Pediatria, Dipartimento Materno-Infantile.
authors.forename: Anna
authors.initials: A
authors.lastname: Cogliardi
authors.affiliation: Divisione di Pediatria, Dipartimento Materno-Infantile.
authors.forename: Claudia
authors.initials: C
authors.lastname: Addis
authors.affiliation: Divisione di Anatomia Patologica, Dipartimento di Medicina di Laboratorio.
authors.forename: Emanuele
authors.initials: E
authors.lastname: Dainese
authors.affiliation: Divisione di Anatomia Patologica, Dipartimento di Medicina di Laboratorio.
authors.forename: Emanuela
authors.initials: E
authors.lastname: Bonoldi
authors.affiliation: Divisione di Anatomia Patologica, Dipartimento di Medicina di Laboratorio.
authors.forename: Alessandro
authors.initials: A
authors.lastname: Marando
mesh_terms: D001158:Arteries / Q000473:pathology; D015415:Biomarkers / Q000097:blood; D016887:Cardiopulmonary Resuscitation / Q000009:adverse effects*; D004636:Emergency Service, Hospital; D017809:Fatal Outcome; D005260:Female; D006323:Heart Arrest / Q000209:etiology*; D006801:Humans; D007223:Infant; D009154:Mutation; D010727:Phosphoric Diester Hydrolases / Q000235:genetics*; D011755:Pyrophosphatases / Q000235:genetics*; D035583:Rare Diseases; D061205:Vascular Calcification / Q000150:complications* / Q000175:diagnosis* / Q000235:genetics
chemical_list: D015415:Biomarkers; D010727:Phosphoric Diester Hydrolases; C065962:ectonucleotide pyrophosphatase phosphodiesterase 1; D011755:Pyrophosphatases