Generalized Arterial Calcification of Infancy

Abstract

Cornelius A. James, Stephanie Powers, David A. Bloom, M. Jeffrey Maisels

A 33 weeks’ gestation female infant was in significant respiratory distress upon delivery and developed severe hypertension. An echocardiogram revealed biventricular hypertrophy and thickening of the aorta and pulmonary artery. Further imaging demonstrated calcifications in the vessels of the neck, abdomen and extremities and a diagnosis of generalized arterial calcification of infancy was made. She was treated with intravenous pamidronate but continued to deteriorate and died on day-5 of life. The autopsy confirmed heart failure and myocardial infarction as the cause of death. Molecular analysis of the ecto-nucleotide pyrophosphatase/phosphodiesterase 1 gene revealed compound heterozygous mutations, confirming the diagnosis of generalized arterial calcification of infancy.

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