面肩肱型肌营养不良症中的镶边空泡：一种独特的超微结构特征。

Rimmed vacuoles in facioscapulohumeral muscular dystrophy: a unique ultrastructural feature.

作者信息

Neudecker Stephan, Krasnianski Michael, Bahn Erik, Zierz Stephan

机构信息

Department of Neurology, Martin-Luther-University Halle-Wittenberg, Ernst-Grube-Str. 40, 06097, Halle (Saale), Germany.

出版信息

Acta Neuropathol. 2004 Sep;108(3):257-9. doi: 10.1007/s00401-004-0894-3. Epub 2004 Jun 24.

DOI:10.1007/s00401-004-0894-3

PMID:15221332

Abstract

Rimmed vacuoles (RV) are a characteristic pathological feature in inclusion body myositis, but may also occur in other neuromuscular disorders, such as distal myopathies, oculopharyngeal myopathy, polymyositis, rigid spine syndrome, congenital myopathies, and some limb girdle muscular dystrophies, as well as in various neurogenic diseases. We describe a patient with RV in familial facioscapulohumeral muscular dystrophy (FSHD) associated with an FSHD-typical deletion on chromosome 4q35. Thus, FSHD should be included in the differential diagnosis of neuromuscular disorders with RV.

摘要

镶边空泡（RV）是包涵体肌炎的特征性病理特征，但也可能出现在其他神经肌肉疾病中，如远端肌病、眼咽肌病、多发性肌炎、僵人综合征、先天性肌病以及一些肢带型肌营养不良症，以及各种神经源性疾病。我们描述了一名患有RV的家族性面肩肱型肌营养不良症（FSHD）患者，其4号染色体长臂35区存在典型的FSHD缺失。因此，FSHD应纳入伴有RV的神经肌肉疾病的鉴别诊断中。