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Case Reports
. 2016 Jul;31(7):1168-72.
doi: 10.3346/jkms.2016.31.7.1168. Epub 2016 May 12.

Two Siblings with Adolescent/Adult Onset Niemann-Pick Disease Type C in Korea

Su-Yun Lee  1 , Hyung Jin Lee  1 , Seong Hwan Kim  2 , Young Jin Jeong  3 , Hee Kyung Jin  4 , Jae-Sung Bae  5 , Sang-Myung Cheon  1 , Jae Woo Kim  1
Affiliations
Case Reports

Two Siblings with Adolescent/Adult Onset Niemann-Pick Disease Type C in Korea

Su-Yun Lee et al. J Korean Med Sci. 2016 Jul.

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.

Keywords: Ataxia; Dystonia; Hepatosplenomegaly; Niemann-Pick Disease, Type C; Oculomotor Paralysis; Psychosis.

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Conflict of interest statement

DISCLOSURE: The authors have no potential conflicts of interest to disclose.

Figures

Fig. 1
Fig. 1
18F-FP-CIT PET scan of Case 1. Image shows mildly decreased 18F-FP-CIT uptake in the right putamen.
Fig. 2
Fig. 2
Abdominal CT scan. (A) Case 1. (B) Case 2. Hepatosplenomegaly is shown in both cases, with greater prominence in Case 2.
Fig. 3
Fig. 3
Unesterified cellular cholesterol fluorescence microscopy after filipin staining. Images are shown for: normal control subject (A), typical patient with NP-C (B), Case 1 (C), and Case 2 (D). Compared with controls, both cases show distinct cholesterol accumulation. Human NPC1-mutant and control fibroblasts (GM03123 and GM05399, respectively) were acquired from the Coriell Institute.
See this image and copyright information in PMC

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