Abe Kazuo, Sakai Norio
Department of Community Health Medicine, Hyogo College of Medicine Graduate School of Medicine, Nishinomiya, Japan.
Division of Neurology, Hyogo College of Medicine Graduate School of Medicine, Nishinomiya, Japan.
BMJ Case Rep. 2017 Aug 22;2017:bcr-2017-220134. doi: 10.1136/bcr-2017-220134.
We report a 37-year-old woman with Niemann-Pick disease type C (NPC) 1. At the age of 8 years, she presented slow running followed by both fingers dystonia at the age of 10 years. At the age of 16 years, she developed declined scholastic achievement. On her first visit at the age of 17 years, she showed dystonia, ataxic gait and vertical supranuclear gaze palsy. We suspected it was NPC. She presented atrophies in the frontal lobes, brainstem and cerebellum in a brain MRI. She presented hepatomegalies and splenomegalies in an abdominal CT. At the age of 26 years, she undertook perpetually tracheal fistula because of recurrent aspiration pneumonia. Diagnosis of NPC1 was made by filipin staining and existence of foamy cells in the bone marrow and NPC1 gene analysis. We obtained informed consent of genetic analysis. Miglustat therapy was started at the age of 32 years. Improvements in swallowing capacity and in muscle tonus were seen.
我们报告了一名37岁的1型尼曼-匹克病（NPC）女性患者。8岁时，她跑步速度变慢，10岁时出现双手手指肌张力障碍。16岁时，她的学业成绩下降。17岁首次就诊时，她表现出肌张力障碍、共济失调步态和垂直性核上性凝视麻痹。我们怀疑是NPC。脑部MRI显示她额叶、脑干和小脑萎缩。腹部CT显示她肝脏和脾脏肿大。26岁时，由于反复吸入性肺炎，她接受了永久性气管造瘘术。通过荧光素染色、骨髓中泡沫细胞的存在以及NPC1基因分析确诊为NPC1。我们获得了基因分析的知情同意书。32岁时开始使用米格鲁司他治疗。吞咽能力和肌肉张力有所改善。
