Kakkar Aanchal, Sharma Mehar Chand, Nambirajan Aruna, Sarkar Chitra, Suri Vaishali, Gulati Sheffali
Department of Pathology and.
Ultrastruct Pathol. 2015;39(4):293-7. doi: 10.3109/01913123.2015.1014612. Epub 2015 Apr 13.
Glycogen branching enzyme deficiency/Andersen disease can manifest with a spectrum of clinical phenotypes, making the diagnosis difficult. An 11-year-old Pakistani boy presented with a history of progressive weakness and delayed milestones. Echocardiography showed features of dilated cardiomyopathy. He was suspected to have congenital myopathy and was evaluated further. Muscle biopsy showed subsarcolemmal accumulation of basophilic material, which stained positively with Periodic acid-Schiff reagent (diastase-resistant). Ultrastructural examination revealed accumulation of structurally abnormal forms of filamentous glycogen, confirming the diagnosis as Andersen disease. As histopathological and immunohistochemical evaluation of muscle biopsies is not always diagnostic, ultrastructural examination may serve as a valuable adjunct in difficult cases.
糖原分支酶缺乏症/安德森病可表现出一系列临床表型，这使得诊断变得困难。一名11岁的巴基斯坦男孩有进行性肌无力和发育迟缓的病史。超声心动图显示扩张型心肌病的特征。他被怀疑患有先天性肌病并接受了进一步评估。肌肉活检显示肌膜下嗜碱性物质积聚，用高碘酸-希夫试剂染色呈阳性（耐淀粉酶）。超微结构检查发现丝状糖原存在结构异常形式的积聚，确诊为安德森病。由于肌肉活检的组织病理学和免疫组织化学评估并不总是具有诊断性，超微结构检查在疑难病例中可能是一项有价值的辅助检查。
