Although a large number of cases of Gaucher's disease have been reported and many excellent discussions have appeared 1 concerning the primary diseases of lipid metabolism, which include Gaucher's disease, Hand-Sch\l=u"\ller-Christiandisease and Niemann-Pick disease, studies of two Negro siblings are presented here. These patients had the changes of Gaucher's disease in the spleen, liver, lymph nodes, blood, bone marrow and conjunctiva.
REPORT OF CASESCase 1.\p=m-\Marshall L., a boy aged 7 years, was first admitted to Duke Hospital on July 7, 1936, with the complaint of having had a large stomach for the past three or four years. His sister Mary, aged 9 years, was admitted at the same time with a similar complaint. The father, aged 29 years, and the mother, aged 30 years, were living and well. There had been one other pregnancy, ending in a miscarriage at three months. The family history was otherwise noncontributory.The boy had an uneventful history until the age of 4 years, when he began to have generalized convulsions, characterized by limpness of the neck and jerking of the entire body. There were no preceding auras, biting of the tongue or foaming at the mouth. These attacks occurred over a period of about three months, as frequently as fifteen times daily; then they subsided, disappeared spontaneously and did not recur.At about the same time (the boy was 4 years of age) a small mass about 4 by 5 cm. was noted in the left upper quadrant of the abdomen, just below the costal margin. Since then the mass had grown steadily until it filled the entire abdomen. There had been no associated pain, nausea, vomiting, bloody diarrhea or hematuria. Two weeks prior to his admission the child's ankles began to swell, but the edema subsided after a few days. On the day before admission he fell and bruised his left eye. Except for slight weakness, he had apparently been feeling well and ate and slept regularly.