A Case Report of Gargoylism

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Gargoylism or Hurler disease, first described by Hunter, is a generalized congenital disease of the connective tissue.Recently, we observed a eight-years-old boy who suffered from a limitation in articular movement and delayed growth, and established the diagnosis of Gargoylism by;1. Dwarfism, Gargoyle appearance and mental retardation2. Typical roentgenographic findings, especially in the vertebral bodies3. Very high mucopolysacharide content in the urine4. Abnormal cytoplasmic inclusions in a proportion of lymphocytes5. The same deformities being found in his sister
西日本整形・災害外科学会の論文