Gaucher's Disease; A Clinical and Pathological Study.

Splenic enlargement in infancy and early childhood is a common clinical finding but the diagnosis of its cause is often a problem of great difficulty. In the present communication, it is not our intention to discuss the merits of any classification, or the question of differential diagnosis, but rather to bring forward a series of cases illuistrating a definite clinical entity, which has, as one of its cardinal signs, a splenomegaly, namely, Gaucher's disease. In 1882, Gaucher (1) described the first case of the condition which bears his name, believing it to be an epithelioma of the spleen. It was not until thirteen years later that Collier (2) in this country and Picou and Ramond (3) in France described the next cases. In 1900, Bovaird (4) described the first of the American cases: he believed the large cells which are characteristic of the condition to be endothelial in origini. In 1904, Brill and( Mandelbaum (5) reported the original case of their series, (lescribing for the first time the occurrence of the large cells in the bone-nmarrow, and it is to these writers that we owe a considerable amount of our knowledge concerning the clinical and pathological nature of the disease. Since then, many cases have been reeorded. Schlagenhaufer ("') reported the first of the German cases in 1907 and referred to it as a disease of the lymphatic-hiematopoietic system. In 1919, Mandelbaum (7) stated that up to that time (1919), there were 21 undoubted examples in the literature, many more having been reported as such but discarded by him on the grounds of insufficient evidence. To this group of unproven cases belong those reported by Knox, Wahl and Schmeisser (8) as well as the two sisters reported by De Lange and Schippers (9). It is only fair to state that one year after their first publication, these last two authors again published a report (10) stating that their original diagnosis was incorrect. Pick (11), in 1926, collected 39 cases, 5 of which were seen and reported by him personally. He agrees with Mandelbaum in discarding certain cases in which the evidence in favour of Gaucher's disease was not complete. Of the 39 cases in his series more than half (22 as compared with 17) have been reported during the last seven years, that is, since Mandelbaum's series in 1919. We have been fortunate in having had under our observation during the last three years, four cases of Gaucher's disease, and through the kindness of Mr. MacLennan, the spleen from a fifth case was obtained for pathological study.