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September 1948

GARGOYLISM: II. Study of Pathologic Lesions and Clinical Review of Twelve Cases

Author Affiliations

From the Departments of Pathology and Pediatrics, University of California Medical School.

Am J Dis Child. 1948;76(3):239-306. doi:10.1001/archpedi.1948.02030030249002

GARGOYLISM (Hurler's syndrome, lipochondrodystrophy and dysostosis multiplex) is a rare disease of early childhood, characterized by a gruesome facies, skeletal deformities, cloudy corneas, mental deficiency, retarded skeletal growth, hepatosplenomegaly, umbilical hernia and hirsutism. Death usually occurs by the end of the first decade. About 107 cases have been reported and collected to date.1

The etiologic basis of the process has remained obscure. While it was apparent that the cells of certain tissues are distended with some stored material, neither chemical nor histochemical technics consistently showed the composition of this substance. The widespread nature of the storage phenomenon was not appreciated; furthermore, it was not generally recognized that the striking skeletal alterations are the result of storage of a substance in the cytoplasm of most of the skeletal cells.

Few autopsy reports have appeared; while many of the lesions were described, further examination of all tissues appeared warranted. In our