generalized arterial calcification of infancy

Generalized arterial calcification of infancy (GACI) is a rare genetic disorder consisting of diffuse arterial calcification and intimal proliferation.

The disease typically results in progressive arterial stenosis and frequently leads to death from myocardial ischemia by 6 months of life.

Affected infants are usually diagnosed before birth or in the neonatal period with symptoms of congestive heart failure.

Therapy with bisphosphonate has been used to treat the condition, but with inconsistent results.

The disease is associated with mutations in ENPP1 in the majority of the cases.

A unique case of GACI associated with in utero meconium peritonitis and without coding region mutations of the ENPP1 gene has been reported.

GACI should be considered in the differential diagnosis in infants presenting with arterial calcifications and congenital anomalies of the gastrointestinal tract.

During routine obstetric ultrasonography, the combination of polyhydramniosis and intrauterine growth restriction may necessitate examination of the major vessels for presumptive a diagnosis of IIAC. (20420290)

Idiopathic infantile arterial calcification (IIAC) is a rare disease of unknown etiology, which is characterized by arterial calcification.

Associations

 meconium peritonitis (19452427)

References

 Generalized arterial calcification of infancy associated with meconium peritonitis: a case report and review of the literature. Sawyer T, Stacey M, Mulreany M, Thompson M, Nitschke Y, Rutsch F, Mahnke CB. Am J Perinatol. 2009 Nov;26(10):711-6. PMID: 19452427

 Idiopathic infantile arterial calcification: prenatal diagnosis and postnatal presentation. Cansu A, Ahmetoglu A, Mutlu M, Guven S, Osmanagaoglu MA. Clin Exp Obstet Gynecol. 2010;37(1):73-5. PMID: 20420290