Gargoylism の1例

抄録

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 retardation
2. Typical roentgenographic findings, especially in the vertebral bodies
3. Very high mucopolysacharide content in the urine
4. Abnormal cytoplasmic inclusions in a proportion of lymphocytes
5. The same deformities being found in his sister