[Mucolipidosis type II (I-cell disease) with unusually severe heart involvement].
Mucolipidosis II (I-cell disease), an autosomal recessive inborn error of mucolipid metabolism with defective transport of lysosomal enzymes is described in a young infant. Besides the typical findings as a result of the "lysosomopathy", this case presented an unusual and distinct cardiac involvement: a cardiomyopathy with dilatation of the left ventricle and signs of an endocardfibroelastosis.
Schulz
R
R
Abteilung Pädiatrische Kardiologie, Universitäts-Kinderklinik, und Poliklinik, Göttingen.
Vogt
J
J
Voss
W
W
Hanefeld
F
F
D002311:Cardiomyopathy, Dilated / Q000150:complications*; D004452:Echocardiography; D004695:Endocardial Fibroelastosis / Q000209:etiology*; D006801:Humans; D007223:Infant; D008297:Male; D009081:Mucolipidoses / Q000150:complications* / Q000473:pathology; D009200:Myocardial Contraction
Mucolipidose Typ II (I-cell Disease) mit ungewöhnlich ausgeprägter Herzbeteiligung.