王 蓓 杨 磊 钟定荣

(中日友好医院病理科, 北京 100029)

组织细胞增生性疾病包含了由单核巨噬细胞系统来源的一组复杂的疾病，其中Erdheim-Chester病(Erdheim-Chester disease, ECD)可以表现为多系统的受累，包括骨、皮肤、肺、垂体等[1]。近些年来发病率逐渐提高，这可能是对于ECD的认识逐渐提高的结果。当ECD首先表现在非骨组织的其他器官中，并具有与该部位更常见的其他疾病相类似的临床表现时，对于内科医生、影像医生和病理医生来说是一种诊断方面的挑战。

笔者现在报道1例以脑部和肺部病变为首发症状，在发病初期，患者临床表现、影像学和病理改变都不典型，而导致正确诊断延后的病例。随着多学科综合诊疗 (multiple disciplinary team, MDT)的推进，将所有临床资料充分整合之后，最终于发病近10个月后明确了ECD的诊断。

1 病例资料

女，42岁，因行走不稳，言语不清，2017年9月外院头颅磁共振成像(magnetic resonance imaging,MRI)示左侧枕叶软化灶；中脑、桥脑、延髓及双侧桥臂、小脑半球多发病灶；MRI增强扫描示中脑、桥脑及双侧小脑半球多发异常强化影(图1)，同时胸部正侧位片示双肺纹理重，双肺多发斑片状密度增高影。外院行脑部肿瘤切除术，术后病理(图2A)提示未见正常小脑组织，代之以多量Rosenthal纤维形成，散在轻度增生的胶质细胞，血管周围可见淋巴细胞及少许泡沫样组织细胞血管浸润。病变不除外低级别胶质瘤或肿瘤旁取材。

图1 2017年9月 脑部MRIFig.1 MRI of the brain in September, 2017Softening lesion of the left occipital lobe; multiple lesions occurred in the midbrain, pons, medulla oblongata, bilateral pons and cerebellar hemispheres.MRI： magnetic resonance imaging.

图2 病理检查(HE染色)Fig.2 Results of pathology (HE Staining)A: Glial cells were mildly proliferous with lymphocytes and a few foamy histocytes infiltrating around the vessels (brain)(20×); B: Lung injury was mainly featured with destroyed alveoli, thickened alveoli septum and the deposition of fibers with the infiltration and aggregation of a large number of inflammatory cells and histocytes (lung) (20×); C: At high magnification, there were a large amount of clear foamy histocytes in the alveoli septum (lung) (40×); D: The skin mass showed a lot of foamy histocytes with scattered polynuclear Touton cells in the proliferating fibrous tissue (skin) (40×).

患者术后第2天开始出现发热，体温波动于37.5 ℃～39.0 ℃，伴有畏寒，发热无昼夜规律性。术后第5天出现气短，呼吸困难，伴咳嗽、少量白色黏痰，不易咳出。……