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

نویسندگان

  • P Mueller
  • A Moeckel
  • I Daehnert
چکیده

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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عنوان ژورنال:

دوره 8  شماره 

صفحات  -

تاریخ انتشار 2006