Frezza E, Terracciano C, Giacanelli M, Rastelli E, Greco G, Massa R
Neuromuscular Diseases Unit, Department of Systems Medicine, University of Rome Tor Vergata, Rome, Italy.
Case Rep Neurol Med. 2018 Sep 27;2018:4127213. doi: 10.1155/2018/4127213. eCollection 2018.
Pompe disease is an autosomal recessive disorder characterized by deficiency of alpha-glucosidase, a lysosomal enzyme, which can lead to glycogen accumulation in skeletal muscle, heart, and nervous system. Clinical presentation is highly variable, with infantile and late-onset (LOPED) forms. Although muscle biopsy findings are rather stereotyped, atypical features have been described. A 52-year-old man without a family history of muscle disorders presented with slowly progressing upper and lower limb girdle weakness and hyperCKemia. At needle EMG, a diffuse neurogenic pattern was detected. Muscle biopsy showed a selective type 1 fiber atrophy with vacuoles of various sizes, filled with PAS and acid phosphatase positive material, confirmed to be glycogen by electron microscopy (EM). Many atrophic fibers contained foci of myofibrillar material recognized as nemaline bodies (NBs) at EM. Low level of alpha-glucosidase activity in blood and molecular genetic testing confirmed the diagnosis of late-onset Pompe disease (LOPED). Major causes of hereditary and acquired NB myopathy were ruled out. In conclusion, NBs represent a novel histological finding in LOPED and characterize the atypical presentation of our case.
庞贝病是一种常染色体隐性疾病，其特征为溶酶体酶α-葡萄糖苷酶缺乏，可导致糖原在骨骼肌、心脏和神经系统中蓄积。临床表现差异很大，有婴儿型和晚发型（LOPED）等形式。尽管肌肉活检结果较为典型，但也有非典型特征的描述。一名无肌肉疾病家族史的52岁男性，表现为上下肢带肌进行性缓慢无力和高肌酸激酶血症。针极肌电图检查发现弥漫性神经源性模式。肌肉活检显示选择性1型纤维萎缩，伴有大小不等的空泡，空泡内充满过碘酸雪夫染色（PAS）和酸性磷酸酶阳性物质，电镜检查证实为糖原。许多萎缩纤维含有肌原纤维物质灶，电镜下被识别为线状体（NBs）。血液中α-葡萄糖苷酶活性水平较低以及分子遗传学检测确诊为晚发型庞贝病（LOPED）。排除了遗传性和获得性NB肌病的主要病因。总之，NBs是LOPED中一种新的组织学发现，也是我们病例非典型表现的特征。
