Clinical, biochemical, and ultrastructural studies in a case of chondrodystrophy presenting the I-cell phenotype in tissue culture

Hepatic Ultrastructure and Histochemistry in Mucolipidosis II (I-Cell Disease)

“…Among the MLS's, Blumcke et al [2] have similarly noted a general tendency toward more severe involvement of the mesenchymal system. In both previous reports of hepatic ultrastructure in MLS II, however, significant hepatocellular vacuolation was evident even though involvement of portal mononuclear cells and Kupffer Liver in mucolipidosis II 567 cells appeared much less severe than in the present case [2,31]. Extensive vacuolation of hepatocytes has also been noted consistently in many other AMP and glycolipid disorders, including mucopolysaccharidosis types I-III [3,20,33,34], fucosidosis [7,21], G Mlgangliosidosis [28,29], and MLS I [6,22].…”

“…Morphologically identical material has previously been identified in hepatic tissues of MLS II patients [2,31], as well as in other mucolipidoses, including fucosidosis [2,7,21], G Ml -gangliosidosis [28,29], and MLS I [6,22]. Moreover, in cultured fibroblasts and in various other tissues affected by MLS II, similar storage inclusions have been observed consistently by electronmicroscopy [5,9,14,31]. An unusual feature of the present case is the prominent involvement of mesenchymally derived cells (Kupffer cells and other macrophages) with relative sparing of epithelially derived hepatocytes.…”

“…Blumcke and associates [2] have reported hepatic ultrastructure briefly in one case of MLS II. Tondeur and coworkers [31] studied extensively a 3.5-year-old I-cell patient with respect to histo-…”

I-Cell Disease: Biochemical Studies

“…Patients BE and JB have been studied by Tondeur et al [20] and by Eggermont et al [8], respectively. Patient CM is currently being followed at the Johns Hopkins Hospital, Baltimore, Maryland.…”

“…Ultrastructural studies [5,20] suggest they are storage cytosomes, possibly derived from lysosomes. In this report we present the results of chemical analyses of the storage material in I-cells as well as the activity of lysosomal hydrolases in these cells.…”