Department of Neurology, Semmelweis University, Balassa utca 6, Budapest, 1083, Hungary.
J Neural Transm (Vienna). 2019 Nov;126(11):1501-1504. doi: 10.1007/s00702-019-02058-0. Epub 2019 Sep 10.
The diagnosis of adult-onset Niemann-Pick disease type C (NPC) could be difficult because its primary symptoms [dementia and vertical supranuclear gaze palsy (VSGP)] are mainly seen in neurodegenerative dementias and progressive supranuclear palsy (PSP). Our patient with dementia and asymmetric parkinsonism resembled corticobasal syndrome and after the appearance of VSGP, the criteria of PSP were fulfilled too. Cerebellar symptoms appeared late during the course of the disease, leading to the diagnosis of NPC at the age of 59 years.
成人发病型尼曼-皮克病 C 型(NPC)的诊断可能较为困难,因为其主要症状(痴呆和垂直核上性眼球运动麻痹(VSGP))主要见于神经退行性痴呆和进行性核上性麻痹(PSP)。我们这位有痴呆和不对称帕金森病表现的患者类似于皮质基底节综合征,在出现 VSGP 后,也符合 PSP 的诊断标准。小脑症状在疾病过程中晚期出现,导致其在 59 岁时被诊断为 NPC。