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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Main Authors:	Wang Yun, Jia Zejin, Lyu Yuelei, Dong Qian, Li Shujuan, Hu Wenli
Format:	article
Language:	EN
Published:	De Gruyter 2021
Subjects:	multimodal mri wilson’s disease copper susceptibility-weighted imaging arterial spin labeling Biology (General) QH301-705.5
Online Access:	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
work_keys_str_mv	AT wangyun multimodalmagneticresonanceimaginganalysisinthecharacteristicsofwilsonsdiseaseacasereportandliteraturereview AT jiazejin multimodalmagneticresonanceimaginganalysisinthecharacteristicsofwilsonsdiseaseacasereportandliteraturereview AT lyuyuelei multimodalmagneticresonanceimaginganalysisinthecharacteristicsofwilsonsdiseaseacasereportandliteraturereview AT dongqian multimodalmagneticresonanceimaginganalysisinthecharacteristicsofwilsonsdiseaseacasereportandliteraturereview AT lishujuan multimodalmagneticresonanceimaginganalysisinthecharacteristicsofwilsonsdiseaseacasereportandliteraturereview AT huwenli multimodalmagneticresonanceimaginganalysisinthecharacteristicsofwilsonsdiseaseacasereportandliteraturereview
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Multimodal magnetic resonance imaging analysis in the characteristics of Wilson’s disease: A case report and literature review

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