Widespread Grey and White Matter Abnormalities in 15-year-old Female: A Case Report on a Rare Radiological Presentation of Wilson Disease
Wilson disease is a genetic disorder affecting copper metabolism, characterised by the accumulation of excess copper, primarily in the liver and brain, and the liver’s inability to excrete copper into the bile. The putamen, lentiform nucleus, thalamus, and brainstem are prominently involved in Magne...
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JCDR Research and Publications Private Limited
2025-05-01
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| Series: | Journal of Clinical and Diagnostic Research |
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| Online Access: | https://jcdr.net/articles/PDF/21017/75204_CE[Ra1]_F(IS)_QC(AN_IS)_PF1(VD_IS)_redo_PFA_NC(IS)_PN(IS).pdf |
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| author | Ashutosh Kumar Mishra Ruchi Shukla Harshil Patel Kushal Singh Archana Verma |
| author_facet | Ashutosh Kumar Mishra Ruchi Shukla Harshil Patel Kushal Singh Archana Verma |
| author_sort | Ashutosh Kumar Mishra |
| collection | DOAJ |
| description | Wilson disease is a genetic disorder affecting copper metabolism, characterised by the accumulation of excess copper, primarily in the liver and brain, and the liver’s inability to excrete copper into the bile. The putamen, lentiform nucleus, thalamus, and brainstem are prominently involved in Magnetic Resonance Imaging (MRI) of the brain in Wilson disease, while lesions affecting grey and white matter are rare. Hereby, the authors present a case of a 15-year-old female patient who presented with postural tremor, dystonia, rigidity, dysarthria, and gait instability, along with bilateral Kayser-Fleischer rings and symmetric grey and white matter T2 hyperintensities in the fronto-temporo-parietal region. Therefore, patients exhibiting clinical signs of neurological involvement and abnormal MRI findings should be thoroughly evaluated for Wilson disease, as it is a disabling yet treatable disorder. |
| format | Article |
| id | doaj-art-aa044aa69eb444ce85eecd88a358dd55 |
| institution | DOAJ |
| issn | 2249-782X 0973-709X |
| language | English |
| publishDate | 2025-05-01 |
| publisher | JCDR Research and Publications Private Limited |
| record_format | Article |
| series | Journal of Clinical and Diagnostic Research |
| spelling | doaj-art-aa044aa69eb444ce85eecd88a358dd552025-08-20T03:13:11ZengJCDR Research and Publications Private LimitedJournal of Clinical and Diagnostic Research2249-782X0973-709X2025-05-01195OD20OD2110.7860/JCDR/2025/75204.21017Widespread Grey and White Matter Abnormalities in 15-year-old Female: A Case Report on a Rare Radiological Presentation of Wilson DiseaseAshutosh Kumar Mishra0Ruchi Shukla1Harshil Patel2Kushal Singh3Archana Verma4Assistant Professor, Department of Neurology, All India Institute of Medical Sciences, Raebareli, Uttar Pradesh, India.Assistant Professor, Department of Ophthalmology, All India Institute of Medical Sciences, Raebareli, Uttar Pradesh, India.Junior Resident, Department of General Medicine, All India Institute of Medical Sciences, Raebareli, Uttar Pradesh, India.Assistant Professor, Department of Radiodiagnosis, All India Institute of Medical Sciences, Raebareli, Uttar Pradesh, India.Professor, Department of Neurology, All India Institute of Medical Sciences, Raebareli, Uttar Pradesh, India.Wilson disease is a genetic disorder affecting copper metabolism, characterised by the accumulation of excess copper, primarily in the liver and brain, and the liver’s inability to excrete copper into the bile. The putamen, lentiform nucleus, thalamus, and brainstem are prominently involved in Magnetic Resonance Imaging (MRI) of the brain in Wilson disease, while lesions affecting grey and white matter are rare. Hereby, the authors present a case of a 15-year-old female patient who presented with postural tremor, dystonia, rigidity, dysarthria, and gait instability, along with bilateral Kayser-Fleischer rings and symmetric grey and white matter T2 hyperintensities in the fronto-temporo-parietal region. Therefore, patients exhibiting clinical signs of neurological involvement and abnormal MRI findings should be thoroughly evaluated for Wilson disease, as it is a disabling yet treatable disorder.https://jcdr.net/articles/PDF/21017/75204_CE[Ra1]_F(IS)_QC(AN_IS)_PF1(VD_IS)_redo_PFA_NC(IS)_PN(IS).pdfcopperdroolingkayser-fleischer ringmagnetic resonance imaging brain |
| spellingShingle | Ashutosh Kumar Mishra Ruchi Shukla Harshil Patel Kushal Singh Archana Verma Widespread Grey and White Matter Abnormalities in 15-year-old Female: A Case Report on a Rare Radiological Presentation of Wilson Disease Journal of Clinical and Diagnostic Research copper drooling kayser-fleischer ring magnetic resonance imaging brain |
| title | Widespread Grey and White Matter Abnormalities in 15-year-old Female: A Case Report on a Rare Radiological Presentation of Wilson Disease |
| title_full | Widespread Grey and White Matter Abnormalities in 15-year-old Female: A Case Report on a Rare Radiological Presentation of Wilson Disease |
| title_fullStr | Widespread Grey and White Matter Abnormalities in 15-year-old Female: A Case Report on a Rare Radiological Presentation of Wilson Disease |
| title_full_unstemmed | Widespread Grey and White Matter Abnormalities in 15-year-old Female: A Case Report on a Rare Radiological Presentation of Wilson Disease |
| title_short | Widespread Grey and White Matter Abnormalities in 15-year-old Female: A Case Report on a Rare Radiological Presentation of Wilson Disease |
| title_sort | widespread grey and white matter abnormalities in 15 year old female a case report on a rare radiological presentation of wilson disease |
| topic | copper drooling kayser-fleischer ring magnetic resonance imaging brain |
| url | https://jcdr.net/articles/PDF/21017/75204_CE[Ra1]_F(IS)_QC(AN_IS)_PF1(VD_IS)_redo_PFA_NC(IS)_PN(IS).pdf |
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