A Probable Case of Gaucher's Anemia

Abstract

Chief Complaint.—Pain in the left hip region when stepping up or down. Family History.—Irrelevant. Past History.—Childhood uneventful. At 15 years of age the patient had an osteomyelitis of the left tibia, which was operated on and which healed promptly. She enjoyed good health until she was 22 years of age. At that time she fell downstairs, striking her right thigh, but was able to get up and walk. A few days later, while lying on the beach, she turned quickly and fractured her right femur at the junction of the middle and lower thirds. At that time a diagnosis, on the basis of an X-ray examination, was made of a pathologic fracture due to osteitis fibrosa cystica. The fracture was treated in the usual manner and bony healing resulted. During the following winter the patient received some X-ray treatment over the region of the fracture. She enjoyed good health until February, 1930, when she began to complain of pain in the left hip joint region when going up and down stairs or when she remained seated in one position for any length of time. She entered the Out-patient Clinic in April, 1930. Physical Examination.—At that time the patient appeared to be a well nourished, fairly well developed, Jewish female 25 years of age. Her skin was dark; head and neck were normal; the thyroid was not enlarged; a systolic murmur was heard in the aortic area and along the left border of the sternum; the pulse was regular; the blood pressure was 126/80; the upper border of the liver was at the level of the fourth rib anteriorly; the lower border reached 7 cm. below the costal margin in the mid-clavicular line; the spleen was enlarged and extended 7 cm. below the costal margin. There was an old healed scar over the left tibia, and a definite limitation of motion of the left hip in all directions. Laboratory Findings.—Urine, specific gravity 1.025; albumin, negative; sugar, negative; urobilin, trace. Blood: red blood corpuscles 3,140,000; white blood corpuscles 4,500; hemoglobin, 70 per cent; neutrophiles, 63 per cent; lymphocytes, 35 per cent; Wassermann reaction, negative. At the time of admission a survey was made of the entire skeleton and it was noted that the cortex of all the bones was thin, this being particularly true of the bones of the vault. In addition, a pathologic condition was seen to involve several of the long bones. This change was most extensive in the femora. It began at the level of the lesser trochanter and extended downward to the condyles. The lower thirds of the femoral shafts were expanded. The cortex appeared to be eroded from the inside in the upper portion, while in the lower third the lamella of the bone seemed to be infiltrated and separated, in addition to the erosion. The lower third of the right femur was the seat of a healed fracture. The head of the left femur was mottled and almost suggested fragmentation. The left tibia, the seat of the osteomyelitis at 15, was bowed inwards and showed some loss of density of the medulla.