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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| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
JCDR Research and Publications Private Limited
2025-05-01
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| Series: | Journal of Clinical and Diagnostic Research |
| Subjects: | |
| 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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| Summary: | 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. |
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| ISSN: | 2249-782X 0973-709X |