Two Siblings with Adolescent/Adult Onset Niemann-Pick Disease Type C in Korea
Two Siblings with Adolescent/Adult Onset Niemann-Pick Disease Type C in Korea
复制标题
DOI：
10.3346/jkms.2016.31.7.1168
复制
发表时间：
2016-07-01
影响因子：
4.5
通讯作者：
Kim, Jae Woo
中科院分区：
文献类型：
--
作者：
Lee, Su-Yun;Lee, Hyung Jin;Kim, Jae Woo
C型尼曼-匹克病（NP-C）是由NPC 1或NPC 2基因突变引起的。进行性神经、精神和内脏症状是特征性的。在这里，我们提出的情况下，兄弟（病例1）和姐妹（病例2）在他们的中期20多岁的步态障碍和精神病。对于病例1，神经系统检查显示肌张力障碍、共济失调、垂直核上性凝视麻痹（VSGP）和整体认知障碍。例2症状较轻，但与例2相似，均伴有皮质萎缩。腹部电脑断层扫描显示两个病例都有肝脾肿大。NPC 1基因测序显示外显子9（c.1552C>T [R518 W]）和外显子18（c.2780C>T [A927 V]）为复合杂合子。菲律宾染色试验也呈阳性。当一个年轻的共济失调或肌张力障碍患者出现VSGP时，应考虑NP-C。
Niemann-Pick disease, type C (NP-C), is caused by NPC1 or NPC2 gene mutations. Progressive neurological, psychiatric, and visceral symptoms are characteristic. Here, we present cases of a brother (Case 1) and sister (Case 2) in their mid-20s with gait disturbance and psychosis. For the Case 1, neurological examination revealed dystonia, ataxia, vertical supranuclear-gaze palsy (VSGP), and global cognitive impairment. Case 2 showed milder, but similar symptoms, with cortical atrophy. Abdominal computed tomography showed hepatosplenomegaly in both cases. NPC1 gene sequencing revealed compound heterozygote for exon 9 (c.1552C>T [R518W]) and exon 18 (c.2780C>T [A927V]). Filipinstaining tests were also positive. When a young patient with ataxia or dystonia shows VSGP, NP-C should be considered.