The pathology and biochemistry of gargoylism; a report of three cases with a review of the literature.

The detailed study by Lindsay, Reilly, Gotham and Skahen (1948) of the pathology in 12 cases of gargoylism was a welcome addition to the literature on the pathology of this curious disease. The study of the pathological features in such a relatively large series of cases enabled these workers greatly to amplify the pathological picture, which had previously been based on a small number of isolated reports. A few additional pathological reports have recently been published making a total of 12 detailed and 10 incomplete reports, with, in addition, several biopsy reports. Lindsay and his colleagues gave a detailed description of the pathology in seven of their cases, incomplete data from another fatal case, and biopsy studies from four cases; the first of the seven detailed reports had been published by Reilly (1935), but some of the histological features now known to be characteristic were not recognized at that time. The antecedent literature contains 12 earlier post-mortem reports, only six of which are reasonably complete; also several biopsy studies. The six reasonably comprehensive reports published before the appearance of the notable contribution by Lindsay and his colleagues were written by Reilly (1935), Kressler and Aegerter (1938), who published the first detailed account of the pathology in a typical case of the disease, De Lange (1942), Kny (1942), De Lange, Gerlings, De Kleyn and Lettinga (1944) and Strauss (1948). A detailed report on the brain of the last of these cases was reported by Green (1948). The incomplete reports by Tuthill (1934) on one of Hurler's cases, and Ashby, Stewart and Watkin (1937) on two cases, were chiefly concerned with the nervous system. The other incomplete pathological reports were by Stoeckel (1941), Wolff (1942) and Nja (1945). Recently, reports on four more cases have been published: Lindsay (1950) gave a detailed account of the features in an infant aged 4months, Magee (1950) an incomplete report on one case and Jervis (1950) incomplete reports on two cases. Reports on the pathology of the cornea were contributed by Berliner (1939), Rochat (1942) and Zeeman (1942), each one case, and by Cordes and Hogan (1942), three cases. The full pathological reports of two of these cases were included in the series of Lindsay et al. (1948). Biopsy examinations were reported by Ellis (1937) on the liver and spleen; by Reilly (1935) and Debre, Marie and Thieffry (1946) on the liver; and by Hora (1939), and Schmidt (1942) on bone. A few other pathological reports may have been overlooked. Strauss, Merliss and Reiser (1947) in a paper on gargoylism recorded a detailed pathological and biochemical examination in a man aged 29 years who was regarded by the authors as a case of this disease. There were so many atypical clinical and pathological features that the case cannot be accepted with certainty as one of gargoylism, though it may well have been a forme fruste. The patient appeared normal until after the age of 9 years, a most exceptional circumstance; he then developed progressive coarsening of the features, limitation of movement of the joints, deformity of the limbs and stunting. This case has been excluded from the following review of the pathology of gargoylism because of its doubtful classification. We have had the opportunity of studying the pathological features of gargoylism in three young children who were observed at the Royal Hospital for Sick Children, Edinburgh, during recent years. One died in the hospital and complete post-mortem and histological examinations were made (A.R.M.); also a differential lipoid analysis of the liver and spleen (S.J.T. and R.H.). The other two children had a biopsy examination made of certain organs. Some of the pathological features in the first of these three cases, notably the vascular infiltration and the heavy meningeal deposit, were of particular interest to us when we observed them in 1944, as neither had been described in the literature at that time.