Generalized arterial calcification of infancy: Three case reports, including spontaneous regression with long-term survival

Sholler, Gary F.; Yu, John S.; Bale, Patricia M.; Hawker, Richard E.; Celermajer, John M.; Kozłowski, K

doi:10.1016/s0022-3476(84)80123-7

Cited by 74 publications

(53 citation statements)

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“…(16,19) Recurrence of AC has not been reported, (20,21) but its long-term sequelae can include persistent arterial luminal narrowing from fibrosis. (19,22,23) Generalized skeletal disease has not been reported in early GACI.…”

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confidence: 99%

Severe skeletal toxicity from protracted etidronate therapy for generalized arterial calcification of infancy

Otero

Gottesman

McAlister

et al. 2012

Journal of Bone and Mineral Research

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Generalized arterial calcification (AC) of infancy (GACI) is an autosomal recessive disorder that features hydroxyapatite deposition within arterial elastic fibers. Untreated, approximately 85% of GACI patients die by 6 months of age from cardiac ischemia and congestive heart failure. The first-generation bisphosphonate etidronate (EHDP; ethane-1-hydroxy-1,1-diphosphonic acid, also known as 1-hydroxyethylidene-bisphosphonate) inhibits bone resorption and can mimic endogenous inorganic pyrophosphate by blocking mineralization. With EHDP therapy for GACI, AC may resolve without recurrence upon treatment cessation. Skeletal disease is not an early characteristic of GACI, but rickets can appear from acquired hypophosphatemia or prolonged EHDP therapy. We report a 7-year-old boy with GACI referred for profound, acquired, skeletal disease. AC was gone after 5 months of EHDP therapy during infancy, but GACI-related joint calcifications progressed. He was receiving EHDP, 200 mg/day orally, and had odynodysphagia, diffuse opioid-controlled pain, plagiocephaly, facial dysmorphism, joint calcifications, contractures, and was wheelchair bound. Biochemical parameters of mineral homeostasis were essentially normal. Serum osteocalcin was low and the brain isoform of creatine kinase and tartrate-resistant acid phosphatase 5b (TRAP-5b) were elevated as in osteopetrosis. Skeletal radiographic findings resembled pediatric hypophosphatasia with pancranial synostosis, long-bone bowing, widened physes, as well as metaphyseal osteosclerosis, cupping and fraying, and ''tongues'' of radiolucency. Radiographic features of osteopetrosis included osteosclerosis and femoral Erlenmeyer flask deformity. After stopping EHDP, he improved rapidly, including remarkable skeletal healing and decreased joint calcifications. Profound, but rapidly reversible, inhibition of skeletal mineralization with paradoxical calcifications near joints can occur in GACI from protracted EHDP therapy. Although EHDP treatment is lifesaving in GACI, surveillance for toxicity is crucial. ß

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confidence: 99%

Severe skeletal toxicity from protracted etidronate therapy for generalized arterial calcification of infancy

Otero

Gottesman

McAlister

et al. 2012

Journal of Bone and Mineral Research

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“…Death from this disease also might be related to occlude vessels especially the coronaries arteries causing myocardial infarction early in life [7]. There is a different cause of pulmonary hypertension in the newborns and idiopathic arterial calcification still one of the very rare causes and usually associated with severe form of pulmonary and occasionally systemic hypertension [8].…”

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confidence: 99%

Severe Fatal Pulmonary Hypertension in Newborn with Idiopathic Arterial Calcification

2015

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confidence: 99%

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Generalized arterial calcification of infancy: Three case reports, including spontaneous regression with long-term survival

Cited by 74 publications

References 19 publications

Severe skeletal toxicity from protracted etidronate therapy for generalized arterial calcification of infancy

Severe skeletal toxicity from protracted etidronate therapy for generalized arterial calcification of infancy

Severe Fatal Pulmonary Hypertension in Newborn with Idiopathic Arterial Calcification

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