North K N, Miller G, Iannaccone S T, Clemens P R, Chad D A, Bella I, Smith T W, Beggs A H, Specht L A
Children's Hospital, Boston, MA, USA.
Neurology. 1996 Feb;46(2):461-5. doi: 10.1212/wnl.46.2.461.
We report four patients, currently aged 15, 17, 19, and 42 years, with X-linked dystrophinopathy who presented with mental retardation (IQ range, 60-68) and psychiatric disturbance in the absence of muscle weakness. All patients had elevated serum creatine kinase and dystrophic changes on muscle biopsy. There were alterations in the size and abundance of dystrophin on immunohistochemistry and immunoblotting in all cases, consistent with a molecular diagnosis of Becker's muscular dystrophy. Two patients had deletions of the dystrophin gene on DNA analysis. These findings suggest that Becker's muscular dystrophy may be associated with a predominantly neuropsychiatric presentation and that dystrophinopathy should be considered in the differential diagnosis of unexplained cognitive or psychiatric disturbance in males. Serum creatine kinase may provide an adequate screening test in this clinical situation.
我们报告了四名患者，目前年龄分别为15岁、17岁、19岁和42岁，患有X连锁肌营养不良症，他们在没有肌肉无力的情况下出现智力发育迟缓（智商范围为60 - 68）和精神障碍。所有患者血清肌酸激酶升高，肌肉活检显示有营养不良性改变。在所有病例中，免疫组织化学和免疫印迹检测显示肌营养不良蛋白的大小和丰度均有改变，这与贝克型肌营养不良症的分子诊断一致。两名患者经DNA分析存在肌营养不良蛋白基因缺失。这些发现表明，贝克型肌营养不良症可能主要与神经精神症状相关，并且在男性不明原因的认知或精神障碍的鉴别诊断中应考虑肌营养不良症。在这种临床情况下，血清肌酸激酶可能是一种合适的筛查检测方法。
