Document 6bVdnpwR00Bz0qwpLOdXzNe19

947 Gaucher's Disease in a Black Stanley B. Novy,1 Ethan Natelson,2 Lawrence Stuart,3 and Leslie Whitlock4 Adult Gaucher's disease, first described in 1 882, is a rare familial constitutional disorder in which glucocerebroside accumulates within reticuloendothelial liver, and bone marrow. The biochemical cells of the spleen, defect in affected patients is variable decrease of a hydrolase (glucocerebro- sidase) infantile that normally is present in many tissues. form of the illness, tissue glucocerebrosidase In the activ- ity is less than 2% of normal and death rapidly ensues. The adult form of Gaucher's disease is associated with enzyme activity often above 1 0% of normal. Here the predominant clinical problems involve hypersplenism and destructive bone disease [1 -5]. The disorder is inherited with equal gender incidence While the juvenile form in an autosomal recessive pattern among affected homozygotes. of Gaucher's disease shows no racial predeliction, the adult form occurs Jewish families of Ashkenazic (Eastern tion. An estimate of its frequency in persons [6]. Sporadic reports of adult most commonly in European) extrac- Israel is 1 :12,000 Gaucher's disease among many other ethnic groups are available but true incidence figures are uncertain [7]. Several authors cite affected black patients, suggesting that the disease may not be rare in this population [7-9]. Case Report A 37-year-old asymptomatic black woman entered St. Joseph's Hospital for definitive evaluation of a class III Pap smear. Her medical history was unremarkable. There was no familial history of consanguinity or of hematogic disorders, and her children, ages 1 8, 1 3, and 9 years, were in good health. On physical examination, she was a healthy appearing woman. Vital signs showed tempera- ture, 37#{176C}; pulse, 82 beats/mm; respirations, 13/mm; and blood pressure, 1 30/80 mm Hg. Her spleen extended 8 cm below the left costal margin and there was moderate hepatomegaly. Pelvic ex- amination was normal. Hemoglobin concentration was 10.3 g/dI; hematocrit value, 30%; white blood cell count, 3,500/mm3 (3.5 x 109/L); and platelet count, 50,000/mm3 (50 x 109/L). Differential blood cell count showed 68% neutrophils, 26% lymphocytes, 4% monocytes, 1 % eosinophils, and 1 % basophils. Reticulocyte count (uncor- rected) was 2.6%. Routine studies on serum were normal, with the exception of the acid phosphatase, which was 6.7 U/mI (normal values, 1 .0-4 U/mI). Hemoglobin electrophoresis was normal. Bone marrow examination revealed erythroid hyperplasia and numerous Gaucher cells (fig. 1 A). Liver biopsy showed distended vascular sinusoids containing numerous Gaucher cells (fig. 1 B). Beta glucosidase activity of the patient leukocytes was 1 .6 nmol/ hr/mg protein (control value, 3.7 nmol/hr/mg protein). Similar studies on her cultured skin fibroblasts showed a value of 1 5.5 nmol/hr/mg protein (control value, 53 mol/hr/mg protein). Radiographic findings included numerous gallbladder calculi in the right upper quadrant. There was downward medial displacement of the left kidney by an enlarged spleen. There was some promi- nence of the bony trabeculae suggestive of a hemolytic process (fig. 2A). Radiography of the femurs demonstrated cortical thick- ening bilaterally (fig. 2B). Films of the right shoulder showed a patchy ` `moth-eaten' ` appearance of the humerus with sclerotic and osteolytic areas (fig. 2C). Following the diagnosis of Gauchers disease, the patient under- went splenectomy. Her blood cell count returned to normal. She continues to do well, with the exception of a painful right shoulder. She ultimately underwent hysterectomy for the abnormal uterine cytology. Discussion Adult Gaucher's disease is generally first detected during investigation of unexplained splenomegaly. Symptoms usu- ally arise during the first decade and bone marrow infiltration. from the enlarged spleen Anemia, leukopenia, and thrombocytopenia are found in varying combinations and may be relieved by splenectomy. Skin pigmentation and conjunctiva may occur. The characteristic cells are seen primarily in the lympho- reticular tissue of liver, spleen, and bone marrow. The classic morphologic findings, which are appreciated best in Romanovsky-stained material, consist of a large cell 20- 1 00 mm in diameter having a nondescript nucleus, but a voluminous cytoplasm containing striations reminiscent of , , crumpled tissue paper. ` ` These ` `foam cells, ` ` which in- dude Gaucher cells, are not diagnostic, since they are seen Received January 25, 1 979; accepted after revision March 1 3, 1979. Department 2 Department .3 Department of Radiology, of Medicine, of Pathology, St. Joseph's St. Joseph's St. Josephs Hospital, Hospital, Hospital, Houston, Houston, Houston, TX 77002. TX 77002. TX 77002. Address reprint 4 Department of Obstetrics and Gynecology, St. Josephs Hospital, Houston, TX 77002. requests to S. B. Novy. AJR 133:947-949, November 1979 0361 -803X/79/1 335-0947 $00.00 American Roentgen Ray Society 948 CASE REPORTS AJR:133, November 1979 "a.' .. I \.` 4 . A Fig. 1 -A, Touch Gaucher cells. preparation from splenic tissue demonstrates Gaucher ` ..,,b ,,. .- . Wa C` i . `I , . ..": ... 4..'.... . . .. ., : #{14`9} . , #{149}f #{149}4_4 #{149} "` #{149} -/A.`..t:s : . r" `.`- ` e - .` `.._4 ``.4 . . . .. 1 #{149} #{149} ,,,,` .` `4 4 . C V 4 #{14`9} ::e :;4: #{149} , .. `. .;#{149} ;`. , ,0 &. ,` .` #{149} . _4"#{149} a :, , : ` . ..: : .. . `4- ` ``fN " 4' ` .,,. I :., , 0' .e :l.'#{149} .jJi-. ..- ,r: : ;`.:...-, . ` ` ( `. ` .. . I ., #{149},;Ib#{149}..4. . ,... .., ( .. . ,,. . .4 ` .. , * . . . ,.. -.a.'. :`` , . :,# . .. :. #{149.} a #{149}` -: 1 B cells. B,,Liver biopsy. Distended vascular sinusoids (arrows) contain numerous A Fig. 2.-A, Gallstones, spenomegaly, by enlarged spleen. B, Bilateral cortical M.D.). prominent trabecula thickening of femoral B of lumbar spine. Excretory shaft. C, Patchy destruction urogram of head demonstrates of humerus in C downward moth-eaten medical displacement pattern (courtesy of left kidney of L. E. Richey, in many other conditions [4]. More exact diagnosis is ob- tamed by enzymatic analysis of leukocytes and cultured skin fibroblasts which may confirm a decreased glucosidase activity. The most frequent sites of skeletal involvement are the femurs, spine, hips, shoulders, tubular bones, and pelvis. The lower extremities are more often involved than the upper. The skull, ribs, sternum, scapulas, and mandible are less often involved. The basic process is similar to that in other diseases where bone marrow shows proliferation or infiltration with abnormal cells. There may be loss of bone density, simulating osteoporosis, especially in the spine. AJR:133, November 1979 CASE REPORTS 949 Bone trabeculae are resorbed and the remaining trabecular stand out in relief, giving an altered or coarsened pattern, as in the lumbar spine of our patient. Pathologic destruction may occur in a geographic or ` ` moth-eaten' ` manner giving a picture very similar to osteolytic metastases. This pattern was seen in the right shoulder of our patient. Ischemic necrosis, particularly of the femoral heads, is one of the most common findings [1 0, 1 1]. In long bones, the cortex may be involved with destruc- tion, scalloping, new bone formation, and cortical thicken- ing. In figure 2B, the cortex of both femurs are thickened. The distal femur may show changes of ` `Erlenmeyer flask" deformity due to the expansion of the femur [1 0, 1 1]. Radiographic findings in Gaucher's disease may occur in other disease entities. However, the combination of radio- graphic findings, clinical findings, and pathologic findings lead to the diagnosis of Gaucher's disease. REFERENCES 1 . Brady RO: Genetics and the sphingolipdoses. Am 53:827-837, 1969 Med Clin North 2. Gordon EJ: Gaucher's disease in adults. South Med J 69:664- 669, 1976 3. Thorn GW: Harrison `s Principles of Internal Medicine, 8th ed. New York, McGraw-Hill, 1 977, pp 676-677 4. Williams WJ, Beutler E, Ereslev AJ, Rundles AW: Hematology. New York, McGraw-Hill, 1 977, pp 1 148-1151 5. Wintrobe MM, Lee GA, Bogg Foerster J: Clinical Hematology. 1974, pp 1332-1336 DR. Bithell TC, Athens JW, Philadelphia, Lea & Febiger, 6. Groen JJ: Present status of knowledge lsrJMedSci 1:507, 1965 of Gaucher's disease. 7. Chang-Lo M, Yam LT, Rubenstone Al: Gaucher's disease: review of the literature and report of twelve new cases. Am J Med Sci 254:303-31 5, 1967 8. Miller J, McCluer A, Kaufer JN: Gaucher's disease: neurologic disorder in adult siblings. Ann Intern Med 78:883-887, 1973 9. Schneider EL, Epstein CJ, Kaback MJ, Brandes D: Severe pulmonary involvement in Gaucher's disease: report of three cases and review of the literature. Am J Med 63:475-480, 1977 1 0. Greenfield GB: Miscellaneous diseases related to the hema- tologic system. Semin Roentgenol 1 1 . Greenfield GB: Radiology of Bone pincott, 1976 4:244-246, Diseases. 1974 Philadelphia, Lip-