A 73-year-old man presented with 1-month history of fatigue and diffuse bone pain. Laboratory studies showed pancytopenia and a whole-body MRI showed osteonecrosis of the right humerus and right femur. A bone marrow biopsy showed macrophages with a “wrinkled tissue paper” appearance in the cytoplasm. What is the diagnosis?
A.Chronic lymphocytic leukemia
B. Gaucher’s disease
C. Mucopolysaccharidosis type 1
D. Niemann-Pick disease
E. Non-Hodgkin’s lymphoma
答案解析：
正确答案是戈谢病。在1型高雪氏症中，部分患者直到成年后期才出现症状。临床特征包括疲乏、肝脾肿大、全血细胞减少、骨痛和骨坏死。通过酶替代疗法，患者的症状减轻，细胞计数改善。
正确答案：B
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