A new type of mucolipidosis associated with hereditary thrombocytopathy and color blindness.
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 findings were almost the same as those of mucopolysaccharidosis, histochemically and electron microscopically. Unique findings were, however, present in the hepatocytes, another inclusion containing dense fine granuloreticular structures was found electron microscopically. Some foamy cells in the lymph nodes, liver including sinusiodal cells, bone marrow and spleen contained intracytoplasmic sudanophilic substance in the form of moderate electron dense globules by electron microscopy. The outstanding finding of the enzymatic activity was the decrease of beta-galactosidase in the liver and brain.
D000328:Adult; D001791:Blood Platelet Disorders / Q000150:complications* / Q000473:pathology; D003117:Color Vision Defects / Q000150:complications* / Q000235:genetics; D006801:Humans; D002479:Inclusion Bodies / Q000648:ultrastructure; D008099:Liver / Q000648:ultrastructure; D008297:Male; D009083:Mucopolysaccharidoses / Q000150:complications* / Q000473:pathology; D009474:Neurons / Q000648:ultrastructure; D010375:Pedigree; D012867:Skin / Q000648:ultrastructure; D013106:Sphingolipidoses / Q000150:complications* / Q000473:pathology