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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| Format: | Article |
| Language: | English |
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De Gruyter
2021-08-01
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| Series: | Open Life Sciences |
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| Online Access: | https://doi.org/10.1515/biol-2021-0071 |
| _version_ | 1797998113629143040 |
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| 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 |
| collection | DOAJ |
| 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. |
| first_indexed | 2024-04-11T10:43:22Z |
| format | Article |
| id | doaj.art-7885795b51ad497cbf1c7005b7a85cbd |
| institution | Directory Open Access Journal |
| issn | 2391-5412 |
| language | English |
| last_indexed | 2024-04-11T10:43:22Z |
| publishDate | 2021-08-01 |
| publisher | De Gruyter |
| record_format | Article |
| series | Open Life Sciences |
| spelling | doaj.art-7885795b51ad497cbf1c7005b7a85cbd2022-12-22T04:29:08ZengDe GruyterOpen Life Sciences2391-54122021-08-0116179379910.1515/biol-2021-0071Multimodal magnetic resonance imaging analysis in the characteristics of Wilson’s disease: A case report and literature reviewWang Yun0Jia Zejin1Lyu Yuelei2Dong Qian3Li Shujuan4Hu Wenli5Department of Neurology, Beijing Chao-Yang Hospital, Capital Medical University, No. 8 Gongtinan Road, Chaoyang District, Beijing 100020, ChinaDepartment of Neurology, Beijing Chao-Yang Hospital, Capital Medical University, No. 8 Gongtinan Road, Chaoyang District, Beijing 100020, ChinaDepartment of Imaging, Beijing Chao-Yang Hospital, Capital Medical University, No. 8 Gongtinan Road, Chaoyang District, Beijing 100020, ChinaDepartment of Neurology, Beijing Chao-Yang Hospital, Capital Medical University, No. 8 Gongtinan Road, Chaoyang District, Beijing 100020, ChinaDepartment of Neurology, Beijing Chao-Yang Hospital, Capital Medical University, No. 8 Gongtinan Road, Chaoyang District, Beijing 100020, ChinaDepartment of Neurology, Beijing Chao-Yang Hospital, Capital Medical University, No. 8 Gongtinan Road, Chaoyang District, Beijing 100020, ChinaWilson’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.https://doi.org/10.1515/biol-2021-0071multimodal mriwilson’s diseasecoppersusceptibility-weighted imagingarterial spin labeling |
| spellingShingle | 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 Open Life Sciences multimodal mri wilson’s disease copper susceptibility-weighted imaging arterial spin labeling |
| title | 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_short | 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 |
| topic | multimodal mri wilson’s disease copper susceptibility-weighted imaging arterial spin labeling |
| url | https://doi.org/10.1515/biol-2021-0071 |
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