Idiopathic infantile arterial calcification (IIAC), also known as idiopathic arterial calcification of infancy (IACI) and generalized infantile arterial calcification (GIAC), is a very rare autosomal recessive disorder with very high mortality rate. Only a few reported cases survive beyond 6 months of life 1.
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Epidemiology
There is no gender predilection and no definite documented risk factors but consanguinity has been suggested to increase the risk for developing the disease 1.
Clinical presentation
Newborns, if they survive birth, may present with cyanosis, severe respiratory distress, hypertrophic cardiomyopathy, and systemic and/or pulmonary hypertension 1-3.
Pathology
Genetics
Mutations in the ENPP1 (ectonucleotide pyrophosphatase/phosphodiesterase 1) gene is recognized in approximately 75-80% of cases 1,3. Mutations are inherited in an autosomal recessive pattern. ENPP1 produces inorganic pyrophosphate which prevents hydroxyapatite crystal deposition in arterial walls 1-3. Its mutation leads to vessel wall calcifications which may be diagnosed in the prenatal and postnatal periods.
Radiographic features
Prenatal ultrasound
increased echogenicity of arterial walls 1,3
polyhydramnios 1,3
ascites 1
Postnatal plain radiograph and CT
calcifications in arterial walls 1
Treatment and prognosis
Most of the cases do not survive in-utero or die within 6 months after birth. Only a few reported cases have survived beyond 6 months of life 1.
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