A NEW TYPE OF MUCOLIPIDOSIS ASSOCIATED WITH HEREDITARY THROMBOCYTOPATHY AND COLOR BLINDNESS

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Abstract
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 β‐galactosidase in the liver and brain.

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