Fernández R, Fernández J M, Cervera C, Teijeira S, Teijeiro A, Domínguez C, Navarro C
Department of Pathology and Neuropathology, Hospital do Meixoeiro, Vigo, Spain.
Neuromuscul Disord. 1999 May;9(3):136-43. doi: 10.1016/s0960-8966(98)00117-5.
Hirano bodies constitute eosinophilic intracytoplasmic inclusions, typically seen in the central nervous system, where they are related to senility and certain dementias such as Alzheimer's disease or the Parkinson-dementia complex. They have been found in different tissues of experimental animals and, on rare occasions, in extraocular muscles of elderly individuals. However, to our knowledge they have not been described in skeletal muscle in locations other than extraocular muscles or associated with muscle pathology. Glycogenosis II or Pompe's disease, is a metabolic disorder caused by acid maltase deficiency and is characterized by glycogen accumulation in lysosomes in various tissues, including skeletal muscle. There are three clinical forms depending on age at onset, the most frequent being the childhood form. We present the histopathological and ultrastructural findings of a muscle biopsy performed in a case of the adult form of glycogenosis II which showed, in addition to characteristic lysosomal glycogen storage, paracrystalline mitochondrial inclusions and, as an exceptional finding, intracytoplasmic Hirano bodies in some muscle fibres.
Hirano小体是嗜酸性胞浆内包涵体，常见于中枢神经系统，与衰老及某些痴呆相关，如阿尔茨海默病或帕金森痴呆综合征。它们已在实验动物的不同组织中被发现，偶尔也见于老年人的眼外肌。然而，据我们所知，除眼外肌外，它们尚未在骨骼肌的其他部位被描述，也未与肌肉病理相关联。糖原贮积症II型或庞贝病，是一种由酸性麦芽糖酶缺乏引起的代谢紊乱疾病，其特征是糖原在包括骨骼肌在内的各种组织的溶酶体中蓄积。根据发病年龄有三种临床类型，最常见的是儿童型。我们展示了一例成人型糖原贮积症II型肌肉活检的组织病理学和超微结构发现，除了特征性的溶酶体糖原贮积外，还显示有平行排列的线粒体包涵体，并且在一些肌纤维中发现了胞浆内Hirano小体，这是一个罕见的发现。
