Methods Gaucher disease (GD) is an autosomal disorder of glycosphingolipid metabolism due to deficiency of the lysosomal acid glucocerebrosidase. Although prevalent among Ashkenazi jews, it has been described in all other ethnic groups. Bone lesions are associated with type 1 and type 3 GD. They are secondary to the progressive accumulation of histiocytes and macrophages laden with glucosylceramide in bone marrow. Expression of skeletal involvement in Gaucher patients ranges from asymptomatic disease, with or without radiologic signs, to symptomatic disease, which can be severe and engender considerable pain and disability. MRI appears to be the most valuable imaging technique for evaluating bone marrow involvement. Splenectomy is suggested to accelerate skeletal deterioration. Our patient was a 23-year old man type 1 GD who was admitted for evaluation of hepatosplenomegaly and thrombocytopenia. He also complained of episodic joint involving both knees, shoulders, wrists and elbows lasting 2 – 5 days that started a year before admission. The pain was defined as non specific pain. Clinical examination yielded local tenderness. Hepatosplenomegaly was confirmed by abdominal CT scan. Biology revealed an hypersplenism (anaemia, thrombocytopenia) and polyclonal hypergammaglobulinemia. X ray of femurs and humerus showed a metaphysal multicystic osseous changes with endosteal cortical erosions. X ray of pelvis showed an osteosclerosis of iliac bones, lytic process of pubis symphysis and pathological fracture of both ischiopubian bones. MRI showed medullar bone infiltration in femurs, pelvis and humerus. 99mTc bone scan was normal. On liver as well as on bone marrow biopsy examination, Gaucher’s cell infiltrates were detected. The level of leukocyte acid beta-glucosidase activity was very low. Hypersplenism was the indication for splenectomy. The weight of the resected spleen was 1950 gr; Following surgery, the patient noted an exacerbation of major joint pain and bone pain involving both femurs and humerus which improve after one week of non steroidal anti-inflammatory drugs. Hypersplenism (thrombocytopenia in particular) was improved. Hepatomegaly without evidence of hepatic dysfunction persisted. Enzyme replacement therapy wasn’t available.
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