[Roentgenologic characteristics of Gaucher's disease (author's transl)]

Gaucher's disease is a rare metabolic disorder in which there is an abnormal accumulation of cerebrosides in the reticuloendothelial system due to a deficit of beta-glucuronidase. Three patients with this disease, 8, 14, and 23 years old, were studied. The purpose of this paper is to point out some of the roentgenologic findings, such as areas of femoral osteolysis, renal venous thrombosis, and in one patient, sclerosis of the sacroiliac joint. Splenomegaly and alteration of the tubular bony structure of the distal end of the femur were present in all three cases. The roentgenologic images of the disease are discussed. The osteoarticular system is the most often affected. Osteolysis is the basic lesion with expansion of the bone marrow and sclerosis. The earliest symptom and sometimes the only one is the Erlenmeyer flask deformity or widening of the distal portion of the femur. Sometimes there is a high degree of deossification without definite osteolytic lesions. Pathologic fractures and fractures caused by pressure of the vertebral bodies are common. Aseptic femoral necrosis are often present. Other less frequent sites of osteoarticular pathology are the skull, jaws, ribs, and sacroiliac joints. Splenomegaly is the most frequent visceral lesion. Other organs sometimes affected are the liver, kidneys, heart, lymphatic system, and lungs, with nodular or basal reticular infiltrations.