A Case of Gargoylism

概要

論文の詳細を見る
Gargoylism, abnormal metabolic disease of acid mucopolysaccharides, was first described by Hunter in 1917. Recently we experienced a case of this disease in 9-years-old boy who was suffering from a limitation in articular movement and delayed growth.Chief clincal findings in our case are followings, 1. Dwarfism, Gargoyle appearance and mulitiple articular rigidity due to maldevelopment of bones and joints2. Slight mental retardation, opaque corneas and hard of hearing3. Slight cardiac hypertrophy, protuberant abdomen, umbilical hernia and hirsutism4. Typical X-ray findings in almost every bones and joints5. Evidence of mucopolysaccharide in the urine
西日本整形・災害外科学会の論文