Idiopathic infantile arterial calcification: Sonographic findings

Abstract

Idiopathic infantile arterial calcification (IIAC) is a rare disease that is characterized by calcification in the media and fibroproliferative changes in the intima of larger arteries, sometimes resulting in reduced vascular elasticity and blood flow. Although the molecular-genetic basis of the disease is unknown, IIAC is presumed to be acquired by an autosomal recessive mode of inheritance and is associated with a reduction in the levels of enzymes responsible for inorganic phosphate balance, resulting in abnormal deposition of calcium into the vessels. We report the case of a female neonate in whom widespread IIAC was initially diagnosed on postnatal sonographic examination. At birth, the infant experienced cardiac failure and hypertension, and arterial pulsation was absent. Routine prenatal sonographic examinations had not revealed any abnormalities, but postnatal gray-scale and color Doppler echocardiographic and sonographic examinations revealed findings consistent with severe IIAC. The cardiac function improved with treatment, but the neonate died of progressive hepatic failure due to reduced flow in calcified and narrowed hepatic arteries. The common carotid arteries were also grossly affected, resulting in cerebral atrophy at the time of birth. Postnatal gray-scale and color Doppler echocardiographic and sonographic examinations allowed noninvasive diagnosis, assessment of severity, and monitoring of progression.

Prenatal ultrasonographic diagnosis of generalized arterial calcification of infancy

“…Periarticular calcification, joint swelling, gangrene of extremities, visceral infarction, motor and mental retardation, and seizures are the other possible findings after birth. Progressive hepatic failure due to reduced flow in calcified and narrowed hepatic arteries and cerebral atrophy secondary to reduced flow through the carotid arteries have been reported . Furthermore, as with the present case, more severe forms may present as hydrops fetalis or fetal demise in the latter half of pregnancy .…”

Idiopathic infantile arterial calcification: clinical presentation, therapy and long-term follow-up

“…Unfortunately, most patients are diagnosed at autopsy. The disease is often lethal in infancy, because of ischaemic cardiomyopathy and other complications of obstructive arteriopathy [2,3,6,11,14,15].…”

Hypophosphatemia, Hyperphosphaturia, and Bisphosphonate Treatment Are Associated With Survival Beyond Infancy in Generalized Arterial Calcification of Infancy

“…Systemic deficiency of nucleotide pyrophosphatase (NPP1) activity (E.C. 3.6.1.9) leading to low serum and urine inorganic pyrophosphate (PP i ) levels has been identified as a diagnostic hallmark of the disease 4,5. Deficient NPP1-catalyzed PP i generation in GACI seems to be mediated by mutations in multiple exons of ENPP1 (MIM*173335) 6.…”