[MIM 208 000, 614 473]

(idiopathic obliterative infant arteriopathy, infant generalized Obliterative arteriopathy, infant arterial occlusive disease)

Acronym for Generalized Arterial Calcification of Infancy.

Very rare. Autosomal recessive transmission of a mutation of the ENPP1 gene on 6q23 (type 1) or of the ABCC6 gene on 16p13.11 (type 2). These two genes are involved in the same pathway of inhibition of calcification. Mutations in the NT5E gene  (MIM 129 190) can result in a similar clinical picture in adults. Very close to elastic pseudoxanthoma (see this term), which, in addition to tissue and arterial calcifications, presents with damage to the skin and retina; it is due to other mutations in the ABCC6 gene. 

Association with varying degrees of:

-         intra - and extravascular calcifications: these calcifications are a result of the precipitation of inorganic phosphates and calcium in hydroxyapatite crystals. Those affecting the internal elastic lamina of the arteries are associated with intimal proliferation inducing luminal stenosis; 

-         stenosis of large and medium arteries

-         hypophosphatemic rickets.

Approximately 25% of children die within the first 24 hours of life in an clinical picture of myocardial ischemia and heart failure. In the absence of treatment, the majority dies before the age of one year.

Treatment: bisphosphonates are effective in some cases but a prolonged treatment can cause bone damage similar to those of osteopetrosis.

Anesthetic implications: 

check cardiac function (ECG and echocardiography) and electrolytes; risk of myocardial ischemia; check BP

References:

-         Freychet C, Gay C, Lavocat M-P, Teyssier G, Patural H et al. 
Le syndrome GACI : à propos d’une observation à début néonatal. 
Arch Pédiatr 2014 ; 21 : 632-6.

-         Otero JE, Gottesman GS, McAlister WH, Mumm S, Madson KL et al.
Severe skelethal toxicity from protacted etidronate therapy for generalized arterial calcification of infancy. 
J Bone Mineral Research 2013; 28: 419-30.

-         Guimaraes S, Lopezs JM, Oliveira JB, Santos A. 
Idiopathic infantile arterial calcification: a rare cause of sudden unexpected death in childhood.
Pathology Research Int 2010, 5 pages; doi: 10.4061/2010/185314

-         Gopalkrishnan S, Shah S, Apuya JS, Timothy M. 
Anesthetic management of a patient with idiopathic arterial calcification of infancy and fused cervical spine. 
Pediatr Anesth 2008; 18: 1006-7.

Updated: April 2019