Turner综合征合并抗肌萎缩蛋白病的临床表现及病理学改变

Clinical Features and Pathological Changes in Turner Syndrome with Dystrophinopathy

目的探讨Turner综合征合并抗肌萎缩蛋白病(dystrophinopathy)的临床表现、病理学特点。方法开放式骨骼肌活检,组化染色、免疫组化染色,病理分析。结果HE染色显示中度肌萎缩,萎缩肌纤维多呈圆形,偶见坏死肌纤维,散在不透明纤维,肌间结缔组织轻度增生。抗Dystrophin-N,-C,-R单克隆抗体染色肌纤维膜淡染。结论此文报道的患者可能为携带dystrophin缺陷基因的Turner综合征患者,因其缺少1条正常X染色体的补偿作用而出现抗肌萎缩蛋白病表现。

Objective To investigate the clinical and pathological features of Turner syndrome with dystrophinopathy. Methods Skeletal muscle open biopsies, histochemical and immunohistochemical stains, the pathological analysis were conducted in a patient with Turner syndrome and dystrophinopathy. Results It could be observed that the muscle fibers were moderate atrophy wearing a round shape in hematoxylin-eosin staining microscopy. Sparse necrotic fibers and opacqe fibers were also observed. Perimysial fibrous connective tissue elements slightly increased. The colour of the sarcolemma revealed by immunohistochemical staining against anti-Dystrophin-N, -C, -R monoclonal antibodies was light in microscopy. Conclusions This patient might possess the Turner syndrome with dystrophin gene defect. The clinical features of dystrophinopathy were manifested because of compensation to the deficiency of a normal X chromosome.