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

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, neuro...

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Autores principales: Lee, Su-Yun, Lee, Hyung Jin, Kim, Seong Hwan, Jeong, Young Jin, Jin, Hee Kyung, Bae, Jae-sung, Cheon, Sang-Myung, Kim, Jae Woo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Academy of Medical Sciences 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4901013/
https://www.ncbi.nlm.nih.gov/pubmed/27366019
http://dx.doi.org/10.3346/jkms.2016.31.7.1168
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author Lee, Su-Yun
Lee, Hyung Jin
Kim, Seong Hwan
Jeong, Young Jin
Jin, Hee Kyung
Bae, Jae-sung
Cheon, Sang-Myung
Kim, Jae Woo
author_facet Lee, Su-Yun
Lee, Hyung Jin
Kim, Seong Hwan
Jeong, Young Jin
Jin, Hee Kyung
Bae, Jae-sung
Cheon, Sang-Myung
Kim, Jae Woo
author_sort Lee, Su-Yun
collection PubMed
description 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.
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spelling pubmed-49010132016-07-01 Two Siblings with Adolescent/Adult Onset Niemann-Pick Disease Type C in Korea Lee, Su-Yun Lee, Hyung Jin Kim, Seong Hwan Jeong, Young Jin Jin, Hee Kyung Bae, Jae-sung Cheon, Sang-Myung Kim, Jae Woo J Korean Med Sci Case Report 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. The Korean Academy of Medical Sciences 2016-07 2016-05-12 /pmc/articles/PMC4901013/ /pubmed/27366019 http://dx.doi.org/10.3346/jkms.2016.31.7.1168 Text en © 2016 The Korean Academy of Medical Sciences. http://creativecommons.org/licenses/by-nc/4.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Lee, Su-Yun
Lee, Hyung Jin
Kim, Seong Hwan
Jeong, Young Jin
Jin, Hee Kyung
Bae, Jae-sung
Cheon, Sang-Myung
Kim, Jae Woo
Two Siblings with Adolescent/Adult Onset Niemann-Pick Disease Type C in Korea
title Two Siblings with Adolescent/Adult Onset Niemann-Pick Disease Type C in Korea
title_full Two Siblings with Adolescent/Adult Onset Niemann-Pick Disease Type C in Korea
title_fullStr Two Siblings with Adolescent/Adult Onset Niemann-Pick Disease Type C in Korea
title_full_unstemmed Two Siblings with Adolescent/Adult Onset Niemann-Pick Disease Type C in Korea
title_short Two Siblings with Adolescent/Adult Onset Niemann-Pick Disease Type C in Korea
title_sort two siblings with adolescent/adult onset niemann-pick disease type c in korea
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4901013/
https://www.ncbi.nlm.nih.gov/pubmed/27366019
http://dx.doi.org/10.3346/jkms.2016.31.7.1168
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