Multimodal magnetic resonance imaging analysis in the characteristics of Wilson’s disease: A case report and literature review

Wilson’s disease (WD) is an inherited disorder of copper metabolism. Multimodal magnetic resonance imaging (MRI) has been reported to provide evidence of the extent and severity of brain lesions. However, there are few studies related to the diagnosis of WD with multimodal MRI. Here, we reported a W...

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Autores principales: Wang Yun, Jia Zejin, Lyu Yuelei, Dong Qian, Li Shujuan, Hu Wenli
Formato: article
Lenguaje:EN
Publicado: De Gruyter 2021
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Acceso en línea:https://doaj.org/article/7885795b51ad497cbf1c7005b7a85cbd
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spelling oai:doaj.org-article:7885795b51ad497cbf1c7005b7a85cbd2021-12-05T14:10:41ZMultimodal magnetic resonance imaging analysis in the characteristics of Wilson’s disease: A case report and literature review2391-541210.1515/biol-2021-0071https://doaj.org/article/7885795b51ad497cbf1c7005b7a85cbd2021-08-01T00:00:00Zhttps://doi.org/10.1515/biol-2021-0071https://doaj.org/toc/2391-5412Wilson’s disease (WD) is an inherited disorder of copper metabolism. Multimodal magnetic resonance imaging (MRI) has been reported to provide evidence of the extent and severity of brain lesions. However, there are few studies related to the diagnosis of WD with multimodal MRI. Here, we reported a WD patient who was subjected to Sanger sequencing, conventional MRI, and multimodal MRI examinations, including susceptibility-weighted imaging (SWI) and arterial spin labeling (ASL). Sanger sequencing demonstrated two pathogenic mutations in exon 8 of the ATP7B gene. Slit-lamp examination revealed the presence of Kayser–Fleischer rings in both eyes, as well as low serum ceruloplasmin and high 24-h urinary copper excretion on admission. Although the substantia nigra, red nucleus, and lenticular nucleus on T1-weighted imaging and T2-weighted imaging were normal, SWI and ASL showed hypointensities in these regions. Besides, decreased cerebral blood flow was found in the lenticular nucleus and the head of caudate nucleus. The patient recovered well after 1 year and 9 months of follow-up, with only a Unified Wilson Disease Rating Scale score of 1 for neurological symptom. Brain multimodal MRI provided a thorough insight into the WD, which might make up for the deficiency of conventional MRI.Wang YunJia ZejinLyu YueleiDong QianLi ShujuanHu WenliDe Gruyterarticlemultimodal mriwilson’s diseasecoppersusceptibility-weighted imagingarterial spin labelingBiology (General)QH301-705.5ENOpen Life Sciences, Vol 16, Iss 1, Pp 793-799 (2021)
institution DOAJ
collection DOAJ
language EN
topic multimodal mri
wilson’s disease
copper
susceptibility-weighted imaging
arterial spin labeling
Biology (General)
QH301-705.5
spellingShingle multimodal mri
wilson’s disease
copper
susceptibility-weighted imaging
arterial spin labeling
Biology (General)
QH301-705.5
Wang Yun
Jia Zejin
Lyu Yuelei
Dong Qian
Li Shujuan
Hu Wenli
Multimodal magnetic resonance imaging analysis in the characteristics of Wilson’s disease: A case report and literature review
description Wilson’s disease (WD) is an inherited disorder of copper metabolism. Multimodal magnetic resonance imaging (MRI) has been reported to provide evidence of the extent and severity of brain lesions. However, there are few studies related to the diagnosis of WD with multimodal MRI. Here, we reported a WD patient who was subjected to Sanger sequencing, conventional MRI, and multimodal MRI examinations, including susceptibility-weighted imaging (SWI) and arterial spin labeling (ASL). Sanger sequencing demonstrated two pathogenic mutations in exon 8 of the ATP7B gene. Slit-lamp examination revealed the presence of Kayser–Fleischer rings in both eyes, as well as low serum ceruloplasmin and high 24-h urinary copper excretion on admission. Although the substantia nigra, red nucleus, and lenticular nucleus on T1-weighted imaging and T2-weighted imaging were normal, SWI and ASL showed hypointensities in these regions. Besides, decreased cerebral blood flow was found in the lenticular nucleus and the head of caudate nucleus. The patient recovered well after 1 year and 9 months of follow-up, with only a Unified Wilson Disease Rating Scale score of 1 for neurological symptom. Brain multimodal MRI provided a thorough insight into the WD, which might make up for the deficiency of conventional MRI.
format article
author Wang Yun
Jia Zejin
Lyu Yuelei
Dong Qian
Li Shujuan
Hu Wenli
author_facet Wang Yun
Jia Zejin
Lyu Yuelei
Dong Qian
Li Shujuan
Hu Wenli
author_sort Wang Yun
title Multimodal magnetic resonance imaging analysis in the characteristics of Wilson’s disease: A case report and literature review
title_short Multimodal magnetic resonance imaging analysis in the characteristics of Wilson’s disease: A case report and literature review
title_full Multimodal magnetic resonance imaging analysis in the characteristics of Wilson’s disease: A case report and literature review
title_fullStr Multimodal magnetic resonance imaging analysis in the characteristics of Wilson’s disease: A case report and literature review
title_full_unstemmed Multimodal magnetic resonance imaging analysis in the characteristics of Wilson’s disease: A case report and literature review
title_sort multimodal magnetic resonance imaging analysis in the characteristics of wilson’s disease: a case report and literature review
publisher De Gruyter
publishDate 2021
url https://doaj.org/article/7885795b51ad497cbf1c7005b7a85cbd
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AT lyuyuelei multimodalmagneticresonanceimaginganalysisinthecharacteristicsofwilsonsdiseaseacasereportandliteraturereview
AT dongqian multimodalmagneticresonanceimaginganalysisinthecharacteristicsofwilsonsdiseaseacasereportandliteraturereview
AT lishujuan multimodalmagneticresonanceimaginganalysisinthecharacteristicsofwilsonsdiseaseacasereportandliteraturereview
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