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CLCN2-related leukoencephalopathy: a case report and review of the literature

BACKGROUND: Loss-of-function mutations in the CLCN2 gene were recently discovered to be a cause of a type of leukodystrophy named CLCN2-related leukoencephalopathy (CC2L), which is characterized by intramyelinic edema. Herein, we report a novel mutation in CLCN2 in an individual with leukodystrophy....

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Autores principales: Guo, Zhuoxin, Lu, Tingting, Peng, Lisheng, Cheng, Huanhuan, Peng, Fuhua, Li, Jin, Lu, Zhengqi, Chen, Shaoqiong, Qiu, Wei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6617604/
https://www.ncbi.nlm.nih.gov/pubmed/31291907
http://dx.doi.org/10.1186/s12883-019-1390-7
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author Guo, Zhuoxin
Lu, Tingting
Peng, Lisheng
Cheng, Huanhuan
Peng, Fuhua
Li, Jin
Lu, Zhengqi
Chen, Shaoqiong
Qiu, Wei
author_facet Guo, Zhuoxin
Lu, Tingting
Peng, Lisheng
Cheng, Huanhuan
Peng, Fuhua
Li, Jin
Lu, Zhengqi
Chen, Shaoqiong
Qiu, Wei
author_sort Guo, Zhuoxin
collection PubMed
description BACKGROUND: Loss-of-function mutations in the CLCN2 gene were recently discovered to be a cause of a type of leukodystrophy named CLCN2-related leukoencephalopathy (CC2L), which is characterized by intramyelinic edema. Herein, we report a novel mutation in CLCN2 in an individual with leukodystrophy. CASE PRESENTATION: A 38-year-old woman presented with mild hand tremor, scanning speech, nystagmus, cerebellar ataxia in the upper limbs, memory decline, tinnitus, and dizziness. An ophthalmologic examination indicated macular atrophy, pigment epithelium atrophy and choroidal capillary atrophy. Brain magnetic resonance imaging (MRI) showed the diffuse white matter involvement of specific white matter tracts. Decreased diffusion anisotropy was detected in various brain regions of the patient. Diffusion tensor tractography (DTT) showed obviously thinner tracts of interest than in the controls, with a decreased fiber number (FN), increased radial diffusivity (RD) and unchanged axial diffusivity (AD). A novel homozygous c.2257C > T (p.Arg753Ter) mutation in exon 20 of the CLCN2 gene was identified. CONCLUSION: CC2L is a rare condition characterized by diffuse edema involving specific fiber tracts that pass through the brainstem. The distinct MRI patterns could be a strong indication for CLCN2 gene analysis. The findings of our study may facilitate the understanding of the pathophysiology and clinical symptoms of this disease. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (10.1186/s12883-019-1390-7) contains supplementary material, which is available to authorized users.
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spelling pubmed-66176042019-07-18 CLCN2-related leukoencephalopathy: a case report and review of the literature Guo, Zhuoxin Lu, Tingting Peng, Lisheng Cheng, Huanhuan Peng, Fuhua Li, Jin Lu, Zhengqi Chen, Shaoqiong Qiu, Wei BMC Neurol Case Report BACKGROUND: Loss-of-function mutations in the CLCN2 gene were recently discovered to be a cause of a type of leukodystrophy named CLCN2-related leukoencephalopathy (CC2L), which is characterized by intramyelinic edema. Herein, we report a novel mutation in CLCN2 in an individual with leukodystrophy. CASE PRESENTATION: A 38-year-old woman presented with mild hand tremor, scanning speech, nystagmus, cerebellar ataxia in the upper limbs, memory decline, tinnitus, and dizziness. An ophthalmologic examination indicated macular atrophy, pigment epithelium atrophy and choroidal capillary atrophy. Brain magnetic resonance imaging (MRI) showed the diffuse white matter involvement of specific white matter tracts. Decreased diffusion anisotropy was detected in various brain regions of the patient. Diffusion tensor tractography (DTT) showed obviously thinner tracts of interest than in the controls, with a decreased fiber number (FN), increased radial diffusivity (RD) and unchanged axial diffusivity (AD). A novel homozygous c.2257C > T (p.Arg753Ter) mutation in exon 20 of the CLCN2 gene was identified. CONCLUSION: CC2L is a rare condition characterized by diffuse edema involving specific fiber tracts that pass through the brainstem. The distinct MRI patterns could be a strong indication for CLCN2 gene analysis. The findings of our study may facilitate the understanding of the pathophysiology and clinical symptoms of this disease. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (10.1186/s12883-019-1390-7) contains supplementary material, which is available to authorized users. BioMed Central 2019-07-10 /pmc/articles/PMC6617604/ /pubmed/31291907 http://dx.doi.org/10.1186/s12883-019-1390-7 Text en © The Author(s). 2019 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
spellingShingle Case Report
Guo, Zhuoxin
Lu, Tingting
Peng, Lisheng
Cheng, Huanhuan
Peng, Fuhua
Li, Jin
Lu, Zhengqi
Chen, Shaoqiong
Qiu, Wei
CLCN2-related leukoencephalopathy: a case report and review of the literature
title CLCN2-related leukoencephalopathy: a case report and review of the literature
title_full CLCN2-related leukoencephalopathy: a case report and review of the literature
title_fullStr CLCN2-related leukoencephalopathy: a case report and review of the literature
title_full_unstemmed CLCN2-related leukoencephalopathy: a case report and review of the literature
title_short CLCN2-related leukoencephalopathy: a case report and review of the literature
title_sort clcn2-related leukoencephalopathy: a case report and review of the literature
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6617604/
https://www.ncbi.nlm.nih.gov/pubmed/31291907
http://dx.doi.org/10.1186/s12883-019-1390-7
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