GARGOYLISM AND AMAUROTIC FAMILY IDIOCY

Abstract

The position of gargoylism and amaurotic family idiocy among the ~ cellular metabolic disorders still remains unsettled in sgite of a considerable progress in chemical analysis of the stored substance in recent years. These two disorders, with some other storage diseases, are often grouped under the heading of cerebral lipidosis because of the similarlity in neuronal histcpatholcgy a s well as biochemistry of the dystrophic substance. In gargoylism, however, the sites to be affected are not only the nervous system but also many other organs such a s liver, s?leen together with mesenchymal tissues inclusive of cartilage and bone ; furthermore, the chemical composition of the material stored in the viscera differs from that of the neurones. These two rare disorders are usually inherited a s a simple Mendelian recessive and have been recently thought t o be due to enzymatic inborn error in cellular metabolism. However, the relationship between this enzymatic concept and morphological or chemical characteristics is not fully clarified yet, and the correlation of these two disorders is not elucidated. The authors, therefore, present two disorders, a case of gargoylism in formes frustes and that of adult type (Kufs) of amaurotic family idiocy, in both of which quantitative chemical determination and histochemical studies are performed. CASE REPORT Gargoylism ClinicalThe first case is that of a 5 year and 4 month old Japanese boy who had almost typical Pfaundler-Hurler syndrome. The family history is not contibulory. Three siblings are alive and 2 dead. He was delivered uneventfully after a normal full-term pregnancy. The birth-weight was 3000 gm. He appeared to dcvelop like a normal infant until his parents Director;