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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...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Medknow Publications & Media Pvt Ltd
2006
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3232566/ https://www.ncbi.nlm.nih.gov/pubmed/22368665 |
| Sumario: | 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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