Krishna Kumar M¹*, Aboorva S², Priyadarshini V² and Ananda Kumar B³

¹Professor of Radiology, Department of Radio-Diagnosis, Trichy SRM Medical College Hospital and Research Centre, Irungalur, Trichy, India
²Postgraduate Student and Resident, Department of Radio-Diagnosis, Trichy SRM Medical college hospital and Research Centre, Irungalur, Trichy, India
³Assistant Professor, Department of Radio-Diagnosis, Trichy SRM Medical College Hospital and Research Centre, Irungalur, Trichy, India

*Shared Authorship: Krishna Kumar M, Professor of Radiology, Department of Radio-Diagnosis, Trichy SRM Medical College Hospital and Research Centre, Irungalur, Trichy, India.

Received: January 12, 2023; Published: February 07, 2023

Abstract

Inborn defect in the copper metabolism leads to Wilson’s disease (WD) with an autosomal recessive pattern of inheritance. Abnormal accumulation of copper in various tissues is caused by ATP7B mutation. In individuals affected by WD, however, impaired copper metabolism and excretion leads to the deposition of redundant free copper in the brain, liver, cornea, kidney and other organs, resulting in organ damage. Diagnosis of WD is made based on various neurologic and hepatic clinical symptoms, Kayser-Fleischer (K-F) rings in the cornea and biochemical tests for copper. Neurological manifestations of WD include pyramidal and extrapyramidal features, as well as cognitive and psychiatric symptoms. Earlier diagnosis and intervention are necessary for patients with WD. Both clinical symptoms and neuroimaging abnormalities are partially reversible with anti-copper treatment. Radiological imaging features were evaluated in a 13 years old preadolescent male with WD, who presented with involuntary movements of extremities, drooling of saliva, dysarthria, vomiting, itching and behaviour disorders for the past 45 days.

Keywords: Hepatolenticular Degeneration; Kayser-Fleischer Rings; Wilson’s Disease

References

1. Bull PC., et al. “The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene”. Nature Genetics 5 (1993): 327-337.
2. Tanzi RE., et al. “The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene”. Nature Genetics 5 (1993): 344-350.
3. Ala A., et al. “Wilson’s disease”. Lancet9559 (2007): 397-408.
4. Walshe JM and Yealland M. “Wilson’s disease: The problem of delayed diagnosis”. Journal of Neurology, Neurosurgery and Psychiatry 55 (1992): 692-696.
5. Brewer GJ and Yuzbasiyan-Gurkan V. “Wilson disease”. Medicine (Baltimore) 71 (1992): 139-164.
6. Pfeiffer RF. “Wilson’s disease”. In: Watts RL, Koller WC, editors. Movement Disorders. Neurologic Principles and Practice. New York: McGraw-Hill Medical Publishers (2004): 779-797.
7. Sternlieb I. “Perspective on Wilson’s disease”. Hepatology 12 (1990): 1234-1239.
8. Wilson SAK. “Progressive Lenticular Degeneration: A Familial Nervous Disease Associated with Cirrhosis of the Liver”. Brain 34 (1912): 295-507.
9. Arruda WO., et al. “Pathogenic compound heterozygous ATP7B mutations with hypoceruloplasminaemia without clinical features of Wilson’s disease”. Journal of Clinical Neuroscience2 (2014): 335-336.
10. Patil M., et al. “A review and current perspective on Wilson disease”. Journal of Clinical and Experimental Hepatology 4 (2013): 321-336.
11. Czlonkowska A., et al. “Late onset Wilson’s disease: therapeutic implications”. Movement Disorders 6 (2008): 896-898.
12. Wilson DC., et al. “Severe hepatic Wilson’s disease in preschool-aged children”. The Journal of Pediatrics 5 (2000): 719-722.
13. Ala A., et al. “Wilson disease in septuagenarian siblings: raising the bar for diagnosis”. Hepatology 3 (2005): 668-670.
14. Wagner S., et al. “Diagnosis and care of Wilson disease with neurological revelation”. Archives de Pédiatrie 3 (2012): 271-276.
15. Rutledge JN., et al. “Study of movement disorders and brain iron by MR”. Air 149 (1987): 365-379.
16. Greenfield JG., et al. “Nutritional deficiencies and metabolic disorders”. In: Greeizfield’s iu’urojut/zoIogv, 5^th edition, London: Edward Arnold (1992): 838-840.
17. Nazer H., et al. “Magnetic resonance imaging of the brain in Wilson disease”. Neuroradiology 35 (1993): 130-133.
18. TJ Kim., et al. “MR Imaging of the Brain in Wilson Disease of Childhood: Findings Before and After Treatment with Clinical Correlation”. American Journal of Neuroradiology 27 (2006): 1373-1378.
19. King AD., et al. “Cranial MR imaging in Wilson disease”. American Journal of Roentgenology 167 (1996): 1579-1584.
20. Dusek P., et al. “Neurologic impairment in Wilson disease”. Annals of Translational Medicine 2 (2019): S64.
21. Dusek P., et al. “Semiquantitative Scale for Assessing Brain MRI Abormalities in Wilson Disease: A Validation Study”. Movement Disorders 6 (2020): 994-1001.
22. Dusek P., et al. “Brain iron accumulation in Wilson’s disease: A longitudinal imaging case study during anticopper treatment using 7.0T MRI and transcranial sonography”. Journal of Magnetic Resonance Imaging 1 (2018): 282-285.
23. Hitoshi S., et al. “Mid-brain pathology of Wilson’s disease: MRI analysis of three cases”. Journal of Neurology, Neurosurgery and Psychiatry 54 (1991): 624-626.
24. Sener RN. “The claustrum on MRI: the bright claustrum as a new sign in Wilson’s disease”. Pediatric Radiology 23 (1993): 594-596.
25. Jacobs DA., et al. “The double panda sign in Wilson disease”. Neurology 61 (2003): 969.
26. Ranjan A., et al. “MRI and oxidative stress markers in neurological worsening of Wilson disease following penicillamine”. Neurotoxicology 49 (2015): 45-49.
27. Litwin T., et al. “The effect of gender on brain MRI pathology in Wilson’s disease”. Metabolic Brain Disease 1 (2013): 69-75.
28. Trocello JM., et al. “Extensive striatal, cortical, and white matter brain MRI abnormalities in Wilson disease”. Neurology17 (2013): 1557.
29. Trocello JM., et al. “Corpus callosum abnormalities in Wilson’s disease”. Journal of Neurology, Neurosurgery and Psychiatry10 (2011): 1119-1121.
30. Van Wassenaer-van Hall HN., et al. “Cranial MR in Wilson disease: abnormal white matter in extrapyramidal and pyramidal tracts”. American Journal of Neuroradiology 10 (1995): 2021-2027.
31. Grimm G., et al. “Evoked potentials in assessment and follow-up of patients with Wilson’s disease”. Lancet8721 (1990): 963-964.
32. Pujol A., et al. “Hyperintense globus pallidus on T1-weighted MRI in cirrhotic patients is associated with severity of liver failure”. Neurology 43 (1993): 65-69.
33. Genovese E., et al. “MR imaging of CNS involvement in children affected by chronic liver disease”. American Journal of Neuroradiology 21 (2000): 845-851.
34. Kim TJ., et al. “MR imaging of the brain in Wilson disease of childhood: findings before and after treatment with clinical correlation”. American Journal of Neuroradiology 27.6 (2006): 1373-1378.
35. Wang A., et al. “Study on Lesion Assessment of Cerebello-Thalamo-Cortical Network in Wilson’s Disease with Diffusion Tensor Imaging”. Neural Plasticity (2017): 7323121.
36. Favrole P., et al. “Clinical correlates of cerebral water diffusion in Wilson disease”. Neurology 3 (2006): 384-389.
37. Jadav R., et al. “Diffusion tensor imaging (DTI) and its clinical correlates in drug naïve Wilson’s disease”. Metabolic Brain Disease 3 (2013): 455-462.
38. Smolinski L., et al. “Brain volume is related to neurological impairment and to copper overload in Wilson’s disease”. Neurological Sciences 10 (2019): 2089-2095.
39. Zou L., et al. “Regional morphometric abnormalities and clinical relevance in Wilson’s disease”. Movement Disorders 4 (2019): 545-554.
40. Hanuška J., et al. “Eye movement abnormalities are associated with brainstem atrophy in Wilson disease”. Neurological Sciences 5 (2020): 1097-1103.
41. Dusek P., et al. “Brain iron accumulation in Wilson disease: a post mortem 7 Tesla MRI - histopathological study”. Neuropathology and Applied Neurobiology 6 (2017): 514-532.
42. Lucato LT., et al. “Proton MR spectroscopy in Wilson’s disease: Analysis of 36 cases”. American Journal of Neuroradiology 26 (2005): 1066-1071.
43. Wei Zhong., et al. “A study of brain MRI characteristics and clinical features in 76 cases of Wilson’s disease”. Journal of Clinical Neuroscience 59 (2019): 167-174.
44. Fatima J., et al. “Hypoparathyroidism in a case of Wilson's disease: rare association of a rare disorder”. Indian Journal of Endocrinology and Metabolism 2 (2013): 361-362.
45. Li W., et al. “Unique CT imaging findings of liver in Wilson's disease”. Abdominal Imaging 1 (2011): 69-73.
46. Akhan O., et al. “Unusual imaging findings in Wilson’s disease”. European Radiology 12 (2002): 66-69.
47. Van Wassenaer-van HH., et al. “Wilson disease: findings at MR imaging and CT of the brain with clinical association”. Radiology 2 (1996): 531-536.
48. Walshe JM. “The conquest of Wilson’s disease”. BrainPt 8 (2009): 2289-2295.

Citation

Citation: Krishna Kumar M., et al. “Radiological Imaging Features of Wilson’s Disease in an Early Adolescent Male: Case Report". Acta Scientific Paediatrics 6.3 (2023): 09-15.

Copyright

Copyright: © 2023 Krishna Kumar M., et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.