Severe dilated cardiomyopathy as an unusual finding in a young infant with mucolipidosis type 2

A neonate presented with mucopolysaccharidosis-like phenotypic expression and typical signs of dysostosis multiplex but without urinary excretion of glycosaminoglycans. Investigations of lysosomal enzymes in cultured fibroblasts revealed a mucolipidosis type 2, known as I-cell disease. We describe t...

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Detalles Bibliográficos
Autores principales: Mueller, P, Moeckel, A, Daehnert, I
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2006
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3232566/
https://www.ncbi.nlm.nih.gov/pubmed/22368665
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author Mueller, P
Moeckel, A
Daehnert, I
author_facet Mueller, P
Moeckel, A
Daehnert, I
author_sort Mueller, P
collection PubMed
description A neonate presented with mucopolysaccharidosis-like phenotypic expression and typical signs of dysostosis multiplex but without urinary excretion of glycosaminoglycans. Investigations of lysosomal enzymes in cultured fibroblasts revealed a mucolipidosis type 2, known as I-cell disease. We describe the fatal course of the patient due to complications of an uncommon dilated cardiomyopathy in this rare disease and discuss the pathogenesis.
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spelling pubmed-32325662012-02-22 Severe dilated cardiomyopathy as an unusual finding in a young infant with mucolipidosis type 2 Mueller, P Moeckel, A Daehnert, I Images Paediatr Cardiol Case Report A neonate presented with mucopolysaccharidosis-like phenotypic expression and typical signs of dysostosis multiplex but without urinary excretion of glycosaminoglycans. Investigations of lysosomal enzymes in cultured fibroblasts revealed a mucolipidosis type 2, known as I-cell disease. We describe the fatal course of the patient due to complications of an uncommon dilated cardiomyopathy in this rare disease and discuss the pathogenesis. Medknow Publications & Media Pvt Ltd 2006 /pmc/articles/PMC3232566/ /pubmed/22368665 Text en Copyright: © Images in Paediatric Cardiology http://creativecommons.org/licenses/by-nc-sa/3.0 This is an open-access article distributed under the terms of the Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Mueller, P
Moeckel, A
Daehnert, I
Severe dilated cardiomyopathy as an unusual finding in a young infant with mucolipidosis type 2
title Severe dilated cardiomyopathy as an unusual finding in a young infant with mucolipidosis type 2
title_full Severe dilated cardiomyopathy as an unusual finding in a young infant with mucolipidosis type 2
title_fullStr Severe dilated cardiomyopathy as an unusual finding in a young infant with mucolipidosis type 2
title_full_unstemmed Severe dilated cardiomyopathy as an unusual finding in a young infant with mucolipidosis type 2
title_short Severe dilated cardiomyopathy as an unusual finding in a young infant with mucolipidosis type 2
title_sort severe dilated cardiomyopathy as an unusual finding in a young infant with mucolipidosis type 2
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3232566/
https://www.ncbi.nlm.nih.gov/pubmed/22368665
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AT daehnerti severedilatedcardiomyopathyasanunusualfindinginayounginfantwithmucolipidosistype2

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