Original articleIdiopathic infantile arterial calcification in siblings: Radiologic diagnosis and successful treatment
References (15)
Athérome congénitale de l'aorte et de l'arterie pulmonaire
Bull Soc Anat Paris
(1899)- et al.
A case of calcification of the arteries and obliterative endarteritis, associated with hydronephrosis in a child age six months
Guys Hosp Rep
(1901) Arterial calcification in infancy with special reference to the coronary arteries
Am J Pathol
(1946)- et al.
Infantile arteriosclerosis
Radiology
(1956) Arterial calcification in infancy
JAMA
(1964)- et al.
Idiopathic arterial calcification of infancy
Am J Clin Pathol
(1959) - et al.
Idiopathic infantile arterial calcification: Roentgen diagnosis of a rare cause of coronary artery occlusion
Pediatr Radiol
(1973)
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ENPP1 homozygous stop-loss variant causing generalized arterial calcifications of infancy: About a severe neonatal clinical case
2023, European Journal of Medical GeneticsSkeletal abnormalities secondary to antenatal etidronate treatment for suspected generalised arterial calcification of infancy
2020, Bone ReportsCitation Excerpt :A broad phenotypic variation ranging from a spontaneous resolution in childhood to an early death despite adequate treatment with the bisphosphonates has been reported in the siblings carrying identical mutations (Le Boulanger et al., 2010). Etidronate, a first generation bisphosphonate, is a synthetic PPi analogue and leads to the cessation of the hydroxyapatite crystal formation and elimination of radiographically evident arterial calcifications in GACI (Meradji et al., 1978). It typically takes from two weeks to two years for radiological resolution of arterial calcifications (Meradji et al., 1978).
Etidronate halts systemic arterial calcification in pseudoxanthoma elasticum
2020, AtherosclerosisCitation Excerpt :Most patients die within the first six months of life and bisphosphonate use is associated with prolonged survival in these patients [17]. Several case reports into GACI show that arterial calcification in the common carotid artery, coronary arteries, aorta, pulmonary, renal, iliac and femoral arteries decreases and even resolves after etidronate treatment[11,18–23], although regression without etidronate has also been described [24–26]. PPi is one of the strongest calcification inhibitors in the human body.
ENPP1 in Blood and Bone: Skeletal and Soft Tissue Diseases Induced by ENPP1 Deficiency
2024, Annual Review of Pathology: Mechanisms of DiseaseLongitudinal assessment of vascular calcification in generalized arterial calcification of infancy
2022, Pediatric Radiology