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Idiopathic Infantile Arterial Calcification: A Possible Cause of Refractory Cardiopulmonary Failure in Infancy

Idiopathic Infantile Arterial Calcification is a rare autosome recessive disease characterized by extensive calcification of medium and large arteries. Loss-of-function mutations in ectonucleotide pyrophosphatase/phosphodiesterase 1 gene have been described in more than 80% of the cases. Although th...

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Autores principales: Nael, A., Siaghani, P. J., Chen, D., Romansky, S. G., Shane, L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3934455/
https://www.ncbi.nlm.nih.gov/pubmed/24660083
http://dx.doi.org/10.1155/2014/189850
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author Nael, A.
Siaghani, P. J.
Chen, D.
Romansky, S. G.
Shane, L.
author_facet Nael, A.
Siaghani, P. J.
Chen, D.
Romansky, S. G.
Shane, L.
author_sort Nael, A.
collection PubMed
description Idiopathic Infantile Arterial Calcification is a rare autosome recessive disease characterized by extensive calcification of medium and large arteries. Loss-of-function mutations in ectonucleotide pyrophosphatase/phosphodiesterase 1 gene have been described in more than 80% of the cases. Although the diagnosis is usually made at autopsy, it is possible to identify cases based on clinical presentation, radiology findings, and molecular studies. Appropriate treatment can be initiated and has been shown to successfully induce permanent remission. We report a 4-week-old neonate who initially presented with respiratory distress, heart failure, and Coxsackie B viremia suggestive of viral induced cardiomyopathy. His symptoms progressed to multiple organ failure and he eventually expired at four weeks of age. On autopsy, diffuse calcium deposition within the internal elastic lamina of medium and large arteries was identified, as well as narrowing of lumen due to myointimal proliferation. This case report will emphasize the importance of taking this rare curable disease into consideration in all cases of infants with cardiopulmonary failure.
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spelling pubmed-39344552014-03-23 Idiopathic Infantile Arterial Calcification: A Possible Cause of Refractory Cardiopulmonary Failure in Infancy Nael, A. Siaghani, P. J. Chen, D. Romansky, S. G. Shane, L. Case Rep Pathol Case Report Idiopathic Infantile Arterial Calcification is a rare autosome recessive disease characterized by extensive calcification of medium and large arteries. Loss-of-function mutations in ectonucleotide pyrophosphatase/phosphodiesterase 1 gene have been described in more than 80% of the cases. Although the diagnosis is usually made at autopsy, it is possible to identify cases based on clinical presentation, radiology findings, and molecular studies. Appropriate treatment can be initiated and has been shown to successfully induce permanent remission. We report a 4-week-old neonate who initially presented with respiratory distress, heart failure, and Coxsackie B viremia suggestive of viral induced cardiomyopathy. His symptoms progressed to multiple organ failure and he eventually expired at four weeks of age. On autopsy, diffuse calcium deposition within the internal elastic lamina of medium and large arteries was identified, as well as narrowing of lumen due to myointimal proliferation. This case report will emphasize the importance of taking this rare curable disease into consideration in all cases of infants with cardiopulmonary failure. Hindawi Publishing Corporation 2014 2014-02-09 /pmc/articles/PMC3934455/ /pubmed/24660083 http://dx.doi.org/10.1155/2014/189850 Text en Copyright © 2014 A. Nael et al. https://creativecommons.org/licenses/by/3.0/ This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Nael, A.
Siaghani, P. J.
Chen, D.
Romansky, S. G.
Shane, L.
Idiopathic Infantile Arterial Calcification: A Possible Cause of Refractory Cardiopulmonary Failure in Infancy
title Idiopathic Infantile Arterial Calcification: A Possible Cause of Refractory Cardiopulmonary Failure in Infancy
title_full Idiopathic Infantile Arterial Calcification: A Possible Cause of Refractory Cardiopulmonary Failure in Infancy
title_fullStr Idiopathic Infantile Arterial Calcification: A Possible Cause of Refractory Cardiopulmonary Failure in Infancy
title_full_unstemmed Idiopathic Infantile Arterial Calcification: A Possible Cause of Refractory Cardiopulmonary Failure in Infancy
title_short Idiopathic Infantile Arterial Calcification: A Possible Cause of Refractory Cardiopulmonary Failure in Infancy
title_sort idiopathic infantile arterial calcification: a possible cause of refractory cardiopulmonary failure in infancy
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3934455/
https://www.ncbi.nlm.nih.gov/pubmed/24660083
http://dx.doi.org/10.1155/2014/189850
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