Two Siblings with Adolescent/Adult Onset Niemann-Pick Disease Type C in Korea.
10.3346/jkms.2016.31.7.1168
- Author:
Su Yun LEE
1
;
Hyung Jin LEE
;
Seong Hwan KIM
;
Young Jin JEONG
;
Hee Kyung JIN
;
Jae Sung BAE
;
Sang Myung CHEON
;
Jae Woo KIM
Author Information
1. Department of Neurology, Dong-A University College of Medicine, Busan, Korea. jwkim@dau.ac.kr
- Publication Type:Case Reports
- Keywords:
Niemann-Pick Disease, Type C;
Dystonia;
Ataxia;
Oculomotor Paralysis;
Psychosis;
Hepatosplenomegaly
- MeSH:
Abdomen/diagnostic imaging;
Asian Continental Ancestry Group/genetics;
Carrier Proteins/genetics;
DNA Mutational Analysis;
Exons;
Female;
Gait Disorders, Neurologic/etiology;
Humans;
Male;
Membrane Glycoproteins/genetics;
Niemann-Pick Disease, Type C/*diagnosis/genetics;
Psychotic Disorders/etiology;
Republic of Korea;
Siblings;
Tomography, X-Ray Computed;
Young Adult
- From:Journal of Korean Medical Science
2016;31(7):1168-1172
- CountryRepublic of Korea
- Language:English
-
Abstract:
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]). Filipin-staining tests were also positive. When a young patient with ataxia or dystonia shows VSGP, NP-C should be considered.
