儿童先天性均一性Ⅰ型肌纤维肌病伴臀肌挛缩症1例临床表现及病理特征

Clinical and Pathological Characteristics of Gluteal Muscle Contracture as Revealing Symptom of Uniform TypeⅠFiber Myopathy in One Child

目的分析伴有臀肌挛缩症先天性均一性Ⅰ型肌纤维肌病1例患儿的临床及病理表现。方法选取伴有臀肌挛缩症的先天性均一性Ⅰ型肌纤维肌病1例。女,11岁。取其股四头肌标本,连续8μm冷冻切片,行苏木精-伊红(HE)、改良Gomori、过碘酸-Schiff(PAS)、油红-ORO、细胞色素C氧化酶(COX)、琥珀酸脱氢酶(SDH)和腺苷三磷酸环化酶(ATPase)组织化学染色;免疫组织化学染色包括慢肌肌球蛋白和快肌肌球蛋白抗体染色。光镜和电镜下观察其病理改变。结果HE染色可见轻度中心核,未见坏死和再生肌纤维;Comori染色未见杆状体、轴空或碎红肌纤维;整体肌纤维COX和SDH的活性减低;ATPase和荧光免疫组织化学染色均显示均一性Ⅰ型肌纤维占99%以上,Ⅱ型肌纤维严重缺乏低于1%。结论臀肌挛缩症可能被认为是先天性均一性Ⅰ型肌纤维肌病的临床表现之一。

Objective To analyze the clinical and pathological characteristics of a case of 11-year-old girl with gluteal muscle contracture as the revealing symptom of the uniform typeⅠfiber myopathy.Methods A case of gluteal muscles contracture as the revealing symptom of the uniform typeⅠfiber myopathy of a 11-year-old girl was selected.From the frozen tissue of the quadriceps,8 μm thick sections were cut and histochemically stained with hematoxylin-eosin（HE）,modified gomori,periodic acid schiff（PAS）,oil red O,cytochlrome C oxidase（COX）,succinate dehydrogenase（SDH） and adenosine triphosphatase（ATPase）.Immunohistochemically stained with monoclonal antibodies against slow myosin and fast myosin.The pothological changes were observed under the light microscope and the electron microscope.Results HE staining showed slightly internal nuclear,but there was no necrotic or regenerating process.There was no evidence of nemaline bodies,core or ragged red fibers.For SDH and COX reacted sections,the activities were decreased in all intermyofiber.ATPase and immunofluorescent staining showed uniformity of the type 1 fibers （greater than 99% ） and a severe loss （less than 1%） of typeⅡ fibers.Conclusion Gluteal muscle contracture may be a type of clinical manifestations in the uniform typeⅠfiber myopathy.