Idiopathic Infantile Arterial Calcification: A Possible Cause of Refractory Cardiopulmonary Failure in Infancy

Abstract

Idiopathic Infantile Arterial Calcification is a rare autosome recessive disease characterized by extensive calcification of medium and large arteries. Loss-of-function mutations in ectonucleotide pyrophosphatase/phosphodiesterase 1 gene have been described in more than 80% of the cases. Although the diagnosis is usually made at autopsy, it is possible to identify cases based on clinical presentation, radiology findings, and molecular studies. Appropriate treatment can be initiated and has been shown to successfully induce permanent remission. We report a 4-week-old neonate who initially presented with respiratory distress, heart failure, and Coxsackie B viremia suggestive of viral induced cardiomyopathy. His symptoms progressed to multiple organ failure and he eventually expired at four weeks of age. On autopsy, diffuse calcium deposition within the internal elastic lamina of medium and large arteries was identified, as well as narrowing of lumen due to myointimal proliferation. This case report will emphasize the importance of taking this rare curable disease into consideration in all cases of infants with cardiopulmonary failure.

A case of idiopathic arterial calcification of infancy diagnosed at autopsy

“…It is accompanied by narrowing of arterial lumen by thickened of sub-intimal tissues [1,2,6,7]. Characteristic histological features and the presentation are useful in differentiating it from other conditions causing calcification of tissues in neonates such as hyper-vitaminosis D, parathyroid abnormalities, intrauterine infections and renal diseases.…”

“…Characteristic histological features and the presentation are useful in differentiating it from other conditions causing calcification of tissues in neonates such as hyper-vitaminosis D, parathyroid abnormalities, intrauterine infections and renal diseases. [1,7]. Refractory cardiac failure is common [1,6,7].…”

“…[1,7]. Refractory cardiac failure is common [1,6,7]. Intrauterine diagnosis of this condition is possible with advanced radiological techniques [1,6].…”

“…Idiopathic arterial calcification of infancy with recurrent neonatal deaths has been reported in consanguineous families [1,2,7]. This condition can be complicated by severe systemic hypertension and myocardial ischaemia.…”

“…Once such inherited conditions are diagnosed, genetic counseling can be done to prevent recurrence of neonatal deaths. Idiopathic arterial calcification of infancy is an autosomal recessive condition characterised by calcification of internal elastic lamina of medium and large arteries causing sudden deaths in infancy [1][2][3].…”