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Gargoylism: A Review of the Principal Features with a Report of Five Cases

1940; BMJ; Volume: 15; Issue: 84 Linguagem: Inglês

10.1136/adc.15.84.201

1468-2044

Johnny Henderson,

Hand Gesture Recognition Systems

The illuminating work of several authors during the last decade has led to a more general recognition of this rare familial syndrome.Briefly, the disease is a form of congenital chondro-osteodystrophy in which the deformities of the head, trunk and limbs are associated with mental defect, corneal clouding and hepatosplenomegaly.Owing to the uncertain pathogenesis, 'Gargoylism,' the colloquial term introduced by Ellis, Sheldon and Capon (1936), would appear preferable to the numerous other designations which have been suggested.It has become generally accepted in this country, but ' Hurler's Syndrome,' ' Polydystrophy-Hurler Type,' ' Chondro-osteodystrophy-Hurler Type' and ' Dysostosis Multiplex-Hurler Type,' amongst others, are terms usually preferred by continental authors.The impressions resulting from a survey of the literature have been embodied in a short account of the principal features of the disease.Records of fifty-seven cases have been found, although satis- factory details are lacking in nine instances.Doubtless, a number of cases will have been missed owing to the lack of a standardized nomenclature.A further five cases are now presented.This paper is intended primarily as a tribute to the late Dr. John Thomson of Edinburgh, who was probably the first to recognize the condition as a disease sui generis.Four of the five cases now presented were under his care at the Royal Edinburgh Hospital for Sick Children, the first of the McL.trio as long ago as 1900.When a younger sibling with similar features came to his notice in 1908 he realized he was dealing with a disease which had no counterpart in the literature and called it ' Johnny McL 's disease ' after the first case.It is a pity he did not report these cases, as he would have been the first to draw attention to the disease and would have advanced its more general recognition p