Haematologica 2002; 87:(10)EIM24
[Medline] [prev] [index] [next]

A mysterious splenomegaly in a young Turkish patient
F.Subiger¹, T.Ponnelle², E.Solary³, F.Girodon^3
1Medical biology service. Hospital. Chaumont. France. ^2,3Departments of histopathology and hematology, Hospital bocage. Dijon, France.
Correspondence: François Subiger, Service de Biologie Médicale, Centre Hospitalier - 2, rue Jeanne d'Arc, 52014 Chaumont Cedex. France. Tél: +33-3-25-30-70-07; Fax: +33-3-25-30-71-82; E-mail: fra.subiger@wanadoo.fr

---

A 22-year old Turkish male patient was admitted for splenectomy. We have no information on his parents' health status. Physical examination showed massive splenomegaly (25 cm), hepatomegaly (19 cm), and a palpable small left inguinal node. The patient complained of painful bone crises affecting mainly the left femoral and humeral bones. The hematologic profile was abnormal showing pancytopenia: haemoglobin levels 5.5 g/dL, platelet count 31x10⁹/L, white cell count 1.4x10⁹/L and neutrophil count 0.72/L. There were no signs of hemolysis or hemoglobinopathy. The Coombs test (direct) and screening for cold agglutinins were negative. A battery of serum tests for various viral (HIV, HBV, HCV, HTLV) and parasitological (Leishmania, candidasis, toxoplasmosis) diseases were negative except for possible past infection by Epstein-Barr virus and cytomegalovirus. Serum protein electrophoresis showed polyclonal hypergammaglobulin at 20 g/L. Tests for inflammatory processes were negative. There were no antinuclear antibodies but the test for Rheumatoid factor (anti-IgG) was positive at 23 kIU/L. Blood biochemistry as well as liver and renal function tests were within normal ranges. The blood levels of vitamin B1, B6, B12 and folic acid were also within the normal ranges.
Multiple bone marrow aspirates showed clearcut erythroblastic hyperactivity at 43% associated with pronounced dyserythropoiesis. No leishmania was isolated. Histopathological analysis of bone marrow biopsy was of great diagnostic interest showing massive infiltration by clusters of large lipid-engorged macrophages (Figure 1); the origin of these cells was identified by immunohistochemical studies using a monoclonal antibody against CD 68 (Figure 2). These cells were positive for staining with periodic acid-Schiff (Figure 3). The histopathological analysis of the bone marrow sample clearly indicated a storage disease of the Gaucher type.
The demonstration of low beta glucosidase activity in leukocytes (1.5 U in our patient : normal range between 6.5 and 10.5) confirmed the diagnosis of Gaucher disease.
The patient will shortly start enzyme replacement therapy with Cerezyme.