Critical care management of a patient with generalized arterial calcification of infancy
Abstract: we describe the case of an infant hospitalized in our pediatric intensive care unit with suspected miocarditis. The diagnosis of generalized arterial calcification of infancy (GACI) was confirmed after genetic analysis, the patient was 6 days on extracorporeal membrane oxygenation and died after a failed attempt of endovascular stent placement on 19th day of hospitalization. This paper also contains a review of the literature including new insights into genetic and molecular mechanisms concerning the development of GACI, describe the pathophysiology of the disease and discuss the recent possible ways of treatment and management of GACI.
2. Cheng K-S, Chen M-R, Ruf N, Lin S-P, Rutsch F. Generalized arterial calcification of infancy: different clinical courses in two affected siblings. Am J Med Genet A. 136:210–3, 2005.
3. Chong CR, Hutchins GM. Idiopathic infantile arterial calcification: the spectrum of clinical presentations. Pediatr Dev Pathol. 11:405–15, 2008.
4. Dlamini N, Splitt M, Durkan A, Siddiqui A, Padayachee S, Hobbins S, Rutsch F, Wraige E. Generalized arterial calcification of infancy: phenotypic spectrum among three siblings including one case without obvious arterial calcifications. Am J Med Genet A. 149A:456–60, 2009.
5. Farquhar J, Makhseed N, Sargent M, Taylor G, Osiovich H. Idiopathic infantile arterial calcification and persistent pulmonary hypertension. Am J Perinatol. 22:121–5, 2005.
6. Ferreira C, Ziegler S, Gahl W. Generalized Arterial Calcification of Infancy. 2014 Nov 13. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® Seattle (WA): University of Washington, Seattle; 1993-2017. World Wide Web URL: https://www.ncbi.nlm.nih.gov/books/NBK253403/
7. Gengaimuthu Karthikeyan Generalized arterial calcification of infancy. J. Pediatr. 162: 1074, 2013.
8. Glatz A.C., Pawel B.R., Hsu D.T., Weinberg P., Chrisant M.R.K. Idiopathic infantile arterial calcification: two case reports, a review of literature and a role for cardiac transplantation. Pediatr. Transplantation 10: 225-233, 2006.
9. Maayan, C., Peleg, O., Eyal, F., Mogle, P., Rosenmann, E., Bar Ziv, J. Idiopathic infantile arterial calcification: a case report and review of the literature. Europ. J. Pediat. 142: 211-215, 1984.
10. 10.Morton R. Idiopathic arterial calcification in infancy. Histopathology. 2:423– 32, 1978.
11. Online Mendelian Inheritance in Man, OMIM®. Johns Hopkins University, Baltimore, MD. MIM Number: 208000: 10/14/2016. World Wide Web URL: https://omim.org/entry/208000?search=208000&highlight=208000
12. Ramjan KA, Roscioli T, Rutsch F, Sillence D, Munns CFJ. Generalized arterial calcification of infancy: treatment with bisphosphonates. Nat Clin Pract Endocrinol Metab. 5:167-72, 2005.
13. Rutsch, F., Boyer, P., Nitschke, Y., Ruf, N., Lorenz-Depierieux, B., Wittkampf, T., Weissen-Plenz, G., Fischer, R.-J., Mughal, Z., Gregory, J. W., Davies, J. H., Loirat, C., Strom, T. M., Schnabel, D., Nurnberg, P., Terkeltaub, R., GACI Study Group. Hypophosphatemia, hyperphosphaturia, and bisphosphonate treatment are associated with survival beyond infancy in generalized arterial calcification of infancy. Circ. Cardiovasc. Genet. 1: 133140, 2008.
14. Shaireen H., Howlett A., Amin H., Yusuf K., Kamaluddeen M., Lodha A. The mystery of persistent pulmonary hypertension: an idiopathic infantile arterial calcification. BMC Pediatrics 13: 107, 2013.
15. Sholler G., Yu J., Bale P., Hawker R., Celermajer J., Kozlowski K. Generalized arterial calcification of infancy: Three case reports, including spontaneous regression with long term survival. J. Pediatr. 105: 257-260, 1984.