title: Severe dilated cardiomyopathy as an unusual finding in a young infant with mucolipidosis type 2.
abstract: 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.
authors.affiliation: HELIOS Hospital Leisnig, Germany.
authors.forename: P
authors.initials: P
authors.lastname: Mueller
authors.forename: A
authors.initials: A
authors.lastname: Moeckel
authors.forename: I
authors.initials: I
authors.lastname: Daehnert