1 型肌强直性营养不良伴正常压力脑积水：病例报告及文献复习。
Myotonic dystrophy type 1 accompanied with normal pressure hydrocephalus: a case report and literature review.
机构信息
Department of Neurology, First Affiliated Hospital, Zhejiang University School of Medicine, 79 Qingchun Road, Hangzhou, 310003, China.
Department of Neurology, Shengzhou People's Hospital, 666 Dangui Road, Shengzhou, 312403, China.
出版信息
BMC Neurol. 2020 Feb 12;20(1):53. doi: 10.1186/s12883-020-01636-0.
BACKGROUND
Myotonic dystrophy type 1 (DM1) is the most common disease that can cause muscle weakness and atrophy among adults. Normal pressure hydrocephalus (NPH) is characterized by the triad of gait disturbance, cognitive impairment and urinary incontinence. The association between DM1 and NPH is extremely rare. We report a Chinese female patient with DM1 in association with NPH.
CASE PRESENTATION
The patient presented with a history of 3-year of walking instability and cognitive impairment. Her brain MRI showed ventriculomegaly with normal cerebrospinal fluid (CSF) pressure and the CSF tap-test was positive, which indicated the diagnosis of probable NPH. DM1 was confirmed by genetic testing.
CONCLUSIONS
Four patients with DM1-NPH association were found before. The association between NPH and DM1 may not be just a coincidence, NPH may occur in DM1 later in life and it is vital to recognize the association as a shunt surgery may improve patients' quality of life.
背景
1 型肌强直性营养不良（DM1）是最常见的可导致成年人肌肉无力和萎缩的疾病。正常压力脑积水（NPH）的特征是步态障碍、认知障碍和尿失禁三联征。DM1 与 NPH 之间的关联极为罕见。我们报告了一例中国女性 DM1 合并 NPH 患者。
病例介绍
患者表现为行走不稳和认知障碍 3 年病史。她的脑部 MRI 显示脑室扩大，脑脊液（CSF）压力正常，CSF 压水试验阳性，提示可能为 NPH。DM1 通过基因检测确诊。
结论
此前发现 4 例 DM1-NPH 相关病例。NPH 与 DM1 之间的关联可能不仅仅是巧合，NPH 可能在 DM1 后半生发生，认识到这种关联很重要，因为分流手术可能会提高患者的生活质量。
Zotero 插件