Unusual muscle pathology in McLeod syndrome
Unusual muscle pathology in McLeod syndrome
复制标题
麦克劳德综合征的异常肌肉病理学
DOI：
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发表时间：
2000
影响因子：
11
通讯作者：
J. Pollard
中科院分区：
文献类型：
--
作者：
M. Barnett;F. Yang;H. Iland;J. Pollard
McLeod综合征的肌肉病理通常较轻，常见的表现为片状坏死性或再生纤维，偶见内核，无炎性细胞浸润。我们报告一位29岁男性患者，表现为慢性疲劳和多汗，其股四头肌切开活体检查显示有成群的坏死纤维，并伴有明显的斑块状单核细胞渗出。McLeod综合征的诊断依据是红细胞棘细胞增多症、血清肌酸激酶升高和Kell血型抗原表达减弱。股四头肌浸润物主要由组织学上典型的巨噬细胞组成。这些细胞核仁突出，有丝分裂，CD68强阳性。此外，还存在少量典型的CD3+、CD43+淋巴细胞。此外，还观察到少量大的非典型CD3+细胞。CD20、CD30、CD79a、CD56免疫组织化学染色均为阴性。常见肌营养不良的免疫细胞化学检查是正常的。肌肉活检的发现突出了这种情况可能与特发性多发性肌炎相混淆。在麦克劳德综合征中报道的肌肉病理范围的扩大，加上这个病例，可能反映了染色体Xp21上XK基因的不同受累，或者是Duchenne肌营养不良症和慢性肉芽肿性疾病的相邻基因的受累。
Muscle pathology in McLeod syndrome is usually mild; patchy necrotic or regenerating fibres, occasional internal nuclei, and the absence of an inflammatory cell infiltrate are the usual findings. We report on a 29 year old man presenting with chronic fatiguability and excessive sweating in whom an open quadriceps muscle biopsy demonstrated grouped necrotic fibres accompanied by striking patchy mononuclear cell infiltrates. The diagnosis of McLeod syndrome was made on the basis of red blood cell acanthocytosis, raised serum creatine kinase, and weak expression of Kell blood group antigens. The quadriceps muscle infiltrate consisted principally of histologically typical macrophages. These cells had prominent nucleoli, displayed numerous mitoses, and were strongly CD68+. A small population of typical CD3+, CD43+ lymphocytes was also present. In addition, a small population of large atypical CD3+ cells was noted. Immunoperoxidase stains for CD20, CD30, CD79a, and CD56 were negative. Immunocytochemical studies for the common muscular dystrophies were normal. The muscle biopsy findings highlight a potential for confusion of this condition with idiopathic polymyositis. The expanding range of muscle pathology reported in McLeod syndrome, to which this case adds, may reflect variable involvement of the XKgene on chromosome Xp21, or of the adjacent loci of Duchenne muscular dystrophy and chronic granulomatous disease.
凯尔血型系统的最新发展。
影响因子：
4.5
作者：
Marsh,WL;Redman,CM
通讯作者：
Redman,CM
男性 Xp21 染色体的轻微缺失与杜氏肌营养不良症、慢性肉芽肿病、色素性视网膜炎和麦克劳德综合征的表达相关。
影响因子：
9.8
作者：
Francke,U;Ochs,HD;deMartinville,B;Giacalone,J;Lindgren,V;Distèche,C;Pagon,RA;Hofker,MH;vanOmmen,GJ;Pearson,PL
通讯作者：
Pearson,PL