An autopsy case of a 19‐year‐old boy who had shown typical gargoyle features, strictly consistent with mucopolysaccharidosis type II (Hunter's syndrome) was reported. Histologically, cytoplasmic vacuolar change was found In hepatocytes, sinusoidal epithelium of spleen, follicular cells of thyroid, Sertoli cells of testis, chromophobe cell of pituitary and generalized fibroblast‐like cells including meninges, cardiac valve and periosteum. The vacuoles consisting of membrane‐bound structures with flocculus protein‐like material and occasional electron dense bodies on electron microscopy, were considered to be the site of mucopolysaccharide deposition by histochemical analysis. Deposition of lipid material consistent with so‐called membranous cytoplasmic body was observed in the neurons of central, peripheral and autonomic nervous system. Hepatosplenomegaly could be explained by cytoplasmic deposition, but the cause of cardiomegaly remained further to be studied. Biochemically hepatic mucopolysaccharide was identified as heparan sulfate, while in the kidney dermatan sulfate and heparan sulfate were detected. The correlation between morphology and biochemistry, and between deposition and degeneration was discussed.
Melanomas developed in both sexes of a strain of Tuxedo variety of the swordtail (Xiphophorus helleri) at a relative frequency of 10-15%. They did not metastasize. However, the tumor margin had infiltratitive growth and subsequently ulcerated. This feature, together with the histologic and cytologic features and apparent heteroploidy of the tumors, as revealed by their DNA content, indicated that the tumors were indeed neoplastic. Electron microscopic findings on the melanosomes in these melanomas at various stages of development were comparable with those on the Harding-Passey mouse melanoma, which contains granular premelanosomes.
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.
of Tokyo, TokyoThe Univeraity of Tokyo, Tokyo Autopsy findings of a 22-year-old Japanese male who showed the symptoms of both mucopolysaccharidosis and sphingolipidosis are reported. The patient had a gargoyle-like face, bone change with cherry-red spot and absence of mucopolysacchariduria, and moreover accompanied by hereditary thrombocytopathy and color blindness. Autopsy Andings were almost the same as those of mucopolysaccharidosis, histochemically and electron microscopically. Unique findings were, however, present ; In the hepatocytes, another inclusion containing dense Ane granuloreticular structures was found electron microscopically. Some foamy cells in the lymph nodes, liver including sinusoidal cells, bone marrow and spleen contained intracytoplasmic sudanophillc substance in the form of moderate electron dense globules by electron microscopy. The outstanding finding of the enzymatic activity was the decrease of 8-galactosidase in the liver and brain. ACTA PATH. JAP. 27: 421-434, 1977. SPRANGER et al., clinically, but differs in the histopathological &dings of the liver, the decreased activity of I3-galactosidase and the presence of hereditary thrombocytopathy and color blindness.BB AT, MB #IF, R@ MEIS, s$m $B
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