Idiopathic Arterial Calcification of Infancy: Case Report

Abstract

Idiopathic arterial calcification of infancy is a rare autosomal recessive disease, characterized by deposition of calcium along the internal elastic membrane of arteries, accompanied by fibrous thickening of the intima which causes luminal narrowing. Here we are reporting a case of idiopathic arterial calcification of infancy in a Saudi female newborn of non-consanguineous pregnant woman who had polyhydramnios. The newborn baby had severe respiratory distress, systemic hypertension and persistent pulmonary hypertension of newborn. She was admitted to Neonatal Intensive Care Unit, where she was ventilated and proper treatment was provided. Molecular genetic testing was positive for mutations of ectonucleotide pyrophosphatase/phosphodiesterase1 gene which is reported in 80% of cases of Idiopathic arterial calcification of infancy. The baby died at about 5 month of age because of myocardial ischemia and cardiorespiratory arrest. Idiopathic Arterial Calcification of Infancy should be considered in any newborn who presented with persistent pulmonary hypertension of newborn, severe systemic hypertension and echogenic vessels on any radiological study. Calcifications of large and medium-sized arteries are important diagnostic finding.

Idiopathic Infantile Arterial Calcification: A Case Report of Successful Extracorporeal Membrane Oxygenation Support

“…In this group, presentation is nonspecific, with lethargy, poor feeding, vomiting, respiratory distress, and shock related to cardiac dysfunction (1, 6, 7). Persistent pulmonary hypertension in a newborn has been reported as the primary presenting pathology (8, 9).…”

Case Report: Coexistence of generalized arterial calcification of infancy (GACI) and maternal infections with cytomegalovirus and Toxoplasma gondii-unexpected fatal complication in a newborn

“…As a non-usual disease, only limited data about the microscopic aspects of GACI have been gathered. GACI is defined by marked calcification of the internal elastic membrane of the large and medium-sized arteries, fibroblastic proliferation in the intima, and a giant cell reaction ( 3 , 6 , 11 ). Coronary arteries were mostly described to be narrowed, with ventricular dysfunction or myocardial infarction as the major complications ( 7 , 11 , 16 , 17 ).…”

“…Untreated, death of the infant occurs before the age of 6 months by myocardial ischemia and cardiorespiratory arrest ( 6 , 19 ). In any baby with pulmonary hypertension and hydramnios, GACI should be suspected ( 6 ).…”

“…Untreated, death of the infant occurs before the age of 6 months by myocardial ischemia and cardiorespiratory arrest ( 6 , 19 ). In any baby with pulmonary hypertension and hydramnios, GACI should be suspected ( 6 ). When diagnosed early, by fetal ultrasound, calcium chelator therapy with sodium thiosulfate or other bisphosphonates that solubilize calcium depositions, along with magnesium supplementation might prolong life until adolescence or early adulthood ( 2 , 6 , 17 , 19 ).…”

“…At autopsy, GACI was reported in infants between 4 days and 20 months after birth (3)(4)(5)(6)(7). In this paper, we present the fatal case of the youngest newborn, which was reported in Medline literature, with non-consanguinity related GACI and the first instance in which the mother had a co-infection with CMV and T. gondii.…”