Adult Gaucher's disease, with special reference to the variations in its clinical course and the value of sternal puncture as an aid to its diagnosis.

By J. GROEN, M.D., AND A. H. GARRER, M.D. G AUCHER’S disease is a rare, often familial disease, distinguished by the presence of characteristic cells in the organs of the reticulo-endothelial system (spleen, liver, lymph glands, bone marrow). The protoplasm of these cells has a typical cytologic appearance due to the presence of a special lipoid, the so-called Gaucher substance or kerasin. The increase in our knowledge of the underlying pathologic process has gradually facilitated the possibility of a clinical diagnosis during life. Gaucher6 described the disease in i88i as an “idiopathic hypertrophy of the spleen, without leukemia,” but he mentioned in his paper that in the course of the disease the liver also,became enlarged. Another sign, the swelling of lymph glands, has proved of little diagnostic value as the swollen glands are usually situated inside the body. An important observation, of help in diagnosis, may be a peculiar yellow pigmentation which develops in some of the cases on the face and in the conjunctivae in the form of wedge-shaped pingueculae. Bloem, Groen and Postma2 and Kveim” 52 drew attention to the presence of a characteristic pigmentation that occurred fairly commonly on the lower legs in their patients suffering Gaucher’s disease. If present, this pigmentation is almost pathognomonic of this condition. Bloem, Groen and Postma2 described a few other minor signs that might be of additional help in the diagnosis; viz., the presence of a peculiar malar flush and the occurrence of myopia. Examination of the blood may yield further useful information: a hypochromic anemia with leukopenia and thrombopenia are usually present, the cholesterol content of the blood is normal or very often, low. However, this hematologic syndrome occurs also in other conditions associated with splenomegaly so that its diagnostic importance is not decisive. The majority of patients exhibit some degree of hemorrhagic diathesis. X-ray examination has supplied us with another means of supporting a clinical diagnosis of Gaucher’s disease. Some of the early investigators, most notably Brill, Mandlebaum and Libman,3 demonstrated that Gaucher cells accumulate in various parts of the bones where they ultimately produce macroscopic areas of bone destruction. Further experience has shown that these bone lesions, although they may occur almost anywhere, show a prediliction for certain areas. The head and neck of the femur are often affected, which gives rise to a typical x-ray picture. The lower ends of the femora often contain so many Gaucher cells that they become swollen and present a shape similar to an Erlenmeyer flask. Even in the presence of these clinical signs, however, a diagnosis of Gaucher’s