强直性肌营养不良1型(DM1)是神经学家最常经历的单基因神经系统疾病之一。DM1会出现几种症状,包括肌肉无力,步态紊乱,尿失禁,和认知能力下降。另一只手,正常压力脑积水(NPH)在老年人群中更为常见,其特征是症状三联症,步态紊乱,尿失禁,和认知能力下降。因此,一些症状在DM1和NPH之间重叠。在这份报告中,我们描述了一个DM1的案例,呈现NPH的三合会,和大脑图像中类似NPH的变化。一名54岁的DM1患者前往我们医院接受康复治疗。他有血脂异常的病史,糖尿病,和白内障。他出现了肌肉无力,上睑下垂,43岁的构音障碍。神经检查显示打击乐和抓握肌强直,远端肌肉无力和萎缩,广泛的步态,和尿失禁.迷你精神状态检查得分为18分。脑磁共振成像显示侧脑室和第三脑室增大,Evans指数为0.38(NPH标准;>0.3),这是对NPH的模仿。轻敲试验(TT)被评价两次。首次TT轻微改善临床症状,但第二个并不引人注目。根据第二个TT结果,我们无法诊断NPH,可以防止不必要的手术分流。DM1的脑成像可以在50岁以上的患者中显示NPH样外观。虽然TT是诊断NPH的黄金标准,其敏感性和特异性因报告而异。在进行手术分流之前,应谨慎解释TT结果。如有必要,DM1患者应考虑多个TT。
Myotonic dystrophy type 1 (DM1) is one of the monogenic neurological diseases that neurologists most often experience. DM1 can develop several symptoms, including muscle weakness, gait disturbance, urinary incontinence, and cognitive decline. Other hand, normal pressure hydrocephalus (NPH) is more frequent in the elderly population and is characterized by a triad of symptoms, gait disturbance, urinary urge incontinence, and cognitive decline. Therefore, some symptoms overlap between DM1 and NPH. In this report, we described a case of DM1 that presented with a triad of NPH, and NPH-like changes in brain images. A 54-year-old man with DM1 visited our hospital for rehabilitation. He had a history of dyslipidemia, diabetes, and cataracts. He developed muscle weakness, blepharoptosis, and dysarthria at 43 years. Neuro-exam revealed percussion and grip myotonia, distal muscle weakness and atrophy, broad-based gait, and urinary incontinence. The mini-mental state examination score was 18. Brain magnetic resonance imaging revealed enlarged lateral and third ventricles and Evans index was 0.38 (NPH criterion; >0.3), which was mimicking for NPH. Tap test (TT) was evaluated twice. First TT improved clinical symptoms slightly, but second was unremarkable. Based on the second TT result, we could not diagnose with NPH and could prevent unnecessary surgical shunting. Brain imaging of DM1 can show an NPH-like appearance in patients older than 50. Although TT is the gold standard for diagnosing NPH, its sensitivity and specificity vary among reports. TT results should be interpreted with caution before performing a surgical shunt. If necessary, multiple TTs should be considered in DM1 patients.