Gargoylism: A review of the principal features with a report of five cases

Abstract

A short account of the features of gargoylism has been given. Fifty-seven cases recorded in the literature have been reviewed. Five additional cases are now presented. The disease is congenital, and the principal clinical features are chondroosteodystrophy with extreme dwarfism, mental defect, corneal clouding and hepatosplenomegaly. The most constant pathological changes are found in the osseous and nervous systems. The bones are thickened and many of them display characteristic deformities. In the brain there are widespread degenerative changes in the nerve cells with intra-and extracellular lipoid deposits. Lipoid deposits may occur in the corneae, liver, spleen and other tissues. The disease is recessively inherited and there is a high familial incidence. There have been five instances of consanguinity in the parents. The available evidence, although fragmentary, offers a considerable amount of support for the view expressed by several authors within the last few years that the disease should be grouped with the congenital disorders of lipoid metabolism. The relationship of the chondro-osteodystrophy to the other morbid features is obscure.