Idiopathic infantile arterial calcification: case report.
Idiopathic infantile arterial calcificationI (IIAC) is a rare disorder characterized by calcium deposition in the internal elastica lamina of medium and large arteries and it has been defined in term of molecular genetics. It is usually fatal, approximately 85% of all patients die within the first months of life owing to ischemia of vital organs. Death from myocardial infarction usually occurs in the first 6 months. Calcification in a peripheral artery with electrocardiogram (ECG) changes of occlusive coronary artery disease suggests the diagnosis. It is caused by mutations in the ENPP1 gene localized on chromosome 6q22 and has OMIM number 208000. A case with fatal evolution at the end of the first month is presented.
Neonatal Intensive Care Unit, University of Cagliari, Cagliari, Italy.
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Palmas
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Tumbarello
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Abbruzzese
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Fanos
D034841:Abdominal Cavity / Q000000981:diagnostic imaging; D001158:Arteries / Q000000981:diagnostic imaging / Q000473:pathology*; D002114:Calcinosis / Q000235:genetics / Q000473:pathology*; D003324:Coronary Artery Disease / Q000150:complications / Q000473:pathology; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D009203:Myocardial Infarction / Q000209:etiology / Q000473:pathology; D014057:Tomography, X-Ray Computed; D014463:Ultrasonography