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

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. 1. Introduction Idiopathic Infantile Arterial Calcification (IIAC) is a rare autosome recessive disease characterized by extensive calcification of medium and large arteries including the aorta, coronary arteries, and renal arteries. Loss-of-function mutation in ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) gene was found in 80% of cases [1]. The disease usually presents from in utero to 3-4 months of age with a wide spectrum of symptoms. The most common constellation of symptoms to raise the possibility of IIAC is respiratory distress, cyanosis, and heart failure [2]. However, rare cases with later presentations have been reported [1, 3]. Without appropriate treatment, IIAC has a high morbidity and mortality rate. On autopsy, calcifications of the large arteries are characteristic, but the most frequent gross findings are myocardial hypertrophy and firm tortuous coronary arteries [1]. Microscopically, diffuse calcium hydroxyapatite deposition within the internal elastic lamina of medium and large arteries with myointimal proliferation and stenosis is characteristic [4, 5]. 2. Case Presentation The patient was a 4-week-old male infant born at an estimated gestational age of 30 weeks with a birth weight of 1665 grams and APGAR scores of 8 and 9 at one and five minutes, respectively. Gross congenital anomalies were not identified. The mother was a gravida 3, para 2, abortion 1, 21-year-old African American with an