Open AccessI‐CELL DISEASE (MUCOLIPIDOSIS II)
Author(s) -
Nagashima Kazuo,
Sakakibara Koko,
Endo Hisako,
Konishi Yumiko,
Nakamura Norimasa,
Suzuki Yosbiyuki,
Abe Toshiaki
Publication year - 1977
Publication title -
acta patholigica japonica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.73
H-Index - 74
ISSN - 0001-6632
DOI - 10.1111/j.1440-1827.1977.tb01874.x
Subject(s) - mucolipidosis , pathology , disease , medicine , biology , biochemistry , enzyme
An autopsy case of I‐cell disease was examined by histological, hlstochemlcal, ultrastructural and biochemical methods. Cultured fibroblasts contained numerous PAS‐ and oil‐red O positive granules consistent with lysosomes. The β‐galactosidase activity was specifically low in liver of the patient. The fiboblast‐llke cells Including the cardiac valves, periosteum and stromal cells of the organs were closely similar to those found in mucopolysaccharidoses histochemically as well as ultrastructurally. Lipid‐like materials were observed massively in the myocardium and in the neurons of spinal ganglia, and from these organs excessive amount of ceramlde tri‐hexosides (GTH) was extracted. In a few hepatocytes the dense membrane‐bound bodies suggestive of lipids were found by electron microscopy. Swollen glomerular epithelium contained strongly colloidal‐iron positive material, but the amount of mucopolysaccharides in kidney was not elevated. In this paper, the relationship among the morphology, the material stored and the enzymes was discussed.