Delauche A J, Cuddon P A, Podell M, Devoe K, Powell H C, Shelton G D
Animal Health Trust, Small Animal Centre, Newmarket, Suffolk, UK.
J Vet Intern Med. 1998 Nov-Dec;12(6):424-30. doi: 10.1111/j.1939-1676.1998.tb02145.x.
The diagnosis of nemaline rod myopathy (NM) is based on the presence of numerous pathognomonic rods within a fresh frozen muscle biopsy specimen. Three forms of congenital NM have been described in humans, and rods have been found to occur in various other conditions. A similar myopathy was described in 1986 in a family of cats. In this report, we describe a case of congenital NM in a 10-month-old Border Collie, an adult-onset NM in an 11-year-old Schipperke, and 2 acquired myopathies with nemaline rods in adult dogs associated with hypothyroidism and Cushing's syndrome. Common clinical features included exercise intolerance, abnormal electromyography, and the presence of nemaline rods in fresh, frozen, and glutaraldehyde-fixed biopsies from proximal appendicular limb muscles. Staining of cryostat sections of muscle biopsy specimens by the modified Gomori trichrome technique disclosed numerous rod bodies that were localized to type 1 fibers by the histochemical adenosine triphosphatase reaction. Accumulation of rods also was demonstrated by electron microscopy in 2 of the cases with localized enlargement and streaming of Z lines. Documentation of NM in a young Border Collie and the adult-onset form in the Schipperke alerts clinicians to the existence of this disorder in these breeds.
杆状体肌病(NM)的诊断基于新鲜冷冻肌肉活检标本中存在大量特征性杆状体。人类已描述了三种先天性NM形式,并且在各种其他病症中也发现了杆状体。1986年在一个猫家族中描述了一种类似的肌病。在本报告中,我们描述了一例10个月大的边境牧羊犬先天性NM病例、一例11岁的舒柏奇犬成年发病型NM病例,以及两例成年犬获得性肌病伴杆状体,分别与甲状腺功能减退症和库欣综合征相关。常见临床特征包括运动不耐受、异常肌电图,以及近端附肢肌肉新鲜、冷冻和戊二醛固定活检中存在杆状体。通过改良的Gomori三色技术对肌肉活检标本的低温切片进行染色,发现大量杆状体,通过组织化学三磷酸腺苷酶反应定位于1型纤维。在2例病例中,电子显微镜也显示杆状体聚集,伴有Z线局部增宽和排列紊乱。边境牧羊犬幼龄犬先天性NM及舒柏奇犬成年发病型NM的记录提醒临床医生注意这些品种中存在这种疾病。