A Tale of Two Sisters: Idiopathic Arterial Calcification of Infancy in Siblings

Abstract

Idiopathic arterial calcification of infancy (IACI) is a rare disorder, characterized by extensive arterial calcification of large and medium sized arteries. We present two cases of IACI in siblings including the prenatal, postnatal and postmortem imaging, which is a hallmark of this disease.

Generalized arterial calcification of infancy—Findings at post-mortem computed tomography and autopsy

“…In patient with GACI, mutation in the ENPP1 gene leads to decreased levels of PPi, which is a potent inhibitor of hydroxyapatite-crystal deposition within blood vessel walls [28,30]. 75-80% of affected individuals have mutations in this gene [10,17,18,28].…”

“…Imaging, as in this case, may demonstrate varying amounts of arterial calcification. Most patients die within the first 6months of life due to complications of myocardial infarction, hypertension or cardiac failure [4,[16][17][18].…”