Just over a century ago, Dr. Gertrud Hurler described what is now commonly called Hurler syndrome. This rare inherited condition became known by terms describing its cardinal physical signs; the eponymous name was not proposed. In 1936, Ellis et al. coined the term “gargoylism” to name the syndrome. We propose that the film The Hunchback of Notre Dame played a key role in the original association of Hurler syndrome with the architectural figures known as gargoyles and with the persistence of the term. Over time, due in large part to its extremely negative connotations and lack of accuracy, “gargoylism” was abandoned. It has been supplanted by a sophisticated clinical understanding of mucopolysaccharidosis type 1 (MPS1), the underlying enzymatic defect, and dramatic advances in early diagnosis and treatment.

中文翻译：

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拒绝石像鬼：对该术语及其与 Hurler 综合征关系的思考

就在一个多世纪前，格特鲁德·赫勒 (Gertrud Hurler) 博士描述了现在通常称为 Hurler 综合征的情况。这种罕见的遗传性疾病通过描述其主要体征的术语而为人所知。没有提议同名。1936 年，埃利斯等人。创造了术语“石像鬼”来命名该综合征。我们建议电影《巴黎圣母院的驼背》在 Hurler 综合征与被称为石像鬼的建筑人物的原始关联以及该术语的持久性方面发挥了关键作用。随着时间的推移，很大程度上由于其极端负面的含义和缺乏准确性，“石像鬼”被抛弃了。它已被对 1 型粘多糖贮积症 (MPS1)、潜在酶缺陷的复杂临床理解以及早期诊断和治疗的巨大进步所取代。