A case of wilson’s disease presenting with cerebellar ataxia

Tải xuống

Dữ liệu tải xuống chưa có sẵn.
pdf (English)     0    0

Tóm tắt

ABSTRACT
Wilson’s disease (WD) is a rare inherited copper metabolism disorder with many clinical symptoms highlighted by hepatic and cerebral features. We present the case of a 17 - year - old female patient with generalized tonic - clonic seizures and cerebellar ataxia who presented to our hospital. The patient was initially diagnosed with encephalitis and epilepsy before being identified with WD based on clinical and laboratory data. The patient had made a significant clinical recovery after six months of follow - up.

https://doi.org/10.38103/jcmhch.2021.72.12

Tài liệu tham khảo

Güngör Ş, Selimoğlu MA, Varol Fİ, et al. Pediatric Wilson’s disease: findings in different presentations. A cross - sectional study. Sao Paulo Med J. 2018;136(4):304-309.

Žigrai M, Vyskočil M, Tóthová A, et al. Late - onset Wilson’s disease. Front Med. 2020;7(26).

Członkowska A, Litwin T, Chabik G. Wilson disease: neurologic features. Handb Clin Neurol. 2017;142:101-119.

Dening TR, Berrios GE, Walshe JM. Wilson’s disease and epilepsy. Brain. 1988;111(Pt 5): 1139-1155.

Dusek P, Litwin T, Członkowska A. Neurologic impairment in Wilson disease. Ann Transl Med. 2019;7:10.

Liu J, Luan J, Zhou X, et al. Epidemiology, diagnosis, and treatment of Wilson’s disease. Intractable Rare Dis Res. 2017;6(4):249-255.

Litwin T, et al. Psychiatric manifestations in Wilson’s disease: possibilities and difficulties for treatment. Ther Advan Psychopharmacol. 2018;8:199-211.

Kathawala M, Hirschfield GM. Insights into the management of Wilson’s disease. Therap Adv Gastroenterol. 2017;10(11):889-905.

Mulligan C, Bronstein JM. Wilson disease: an overview and approach to management. Neurol Clin. 2020;38(2):417-432.

Roberts EA, Schilsky ML. Diagnosis and treatment of Wilson disease: an update. Hepatology. 2008;47(6):2089-2111.

Bandmann O, Weiss KH, Kaler SG. Wilson’s disease and other neurological copper disorders. Lancet Neurol. 2015;14(1):103-113.

Cao C, Colangelo T, Dhanekula RK, et al. A rare case of wilson disease in a 72 - year - old patient. ACG Case Rep J. 2019;6(3):e00024.

Kalita J, Misra UK, Kumar V, et al. Predictors of seizure in Wilson disease: a clinico-radiological and biomarkers study. Neurotoxicology. 2019; 71:87-92.

Walshe JM. Wilson disease. In: Andermann F, Guerrini R, Shorvon SD, editors. The Causes of Epilepsy: Common and Uncommon Causes

in Adults and Children. Cambridge: Cambridge University Press; 2011:249-251.

Lorincz M. Neurologic Wilson’s disease. Ann N Y Acad Sci. 2010;1184:173-187.

Cao C, Colangelo T, Dhanekula RK, et al. A rare case of Wilson disease in a 72 - year - old patient. ACG Case Rep J. 2019;6(3):1.

Pradeepkumar S, Rudrappa R, Rajakumar S. Neuro Wilson’s - an Alien Presentation. Ann Int Med Dental Res. 2016;3.

Kim M - K, Lee K, Woo H-Y, et al. Late diagnosis of wilson disease, initially presenting as cerebellar atrophy mimicking spinocerebellar ataxia, by multigene panel testing. Ann Lab Med. 2020;40(6):500-503.

Shribman S, Warner TT, Dooley JS. Clinical presentations of Wilson disease. Ann Transl Med. 2019;7:6.

Kaur H, Kaur K, Sharma N, Kumar K. Wilson’s disease: a case report. International Journal of Contemporary Medical Research. 2019;6(7):G42-44.

Woimant F, Djebrani-Oussedik N, Poujois A. New tools for Wilson’s disease diagnosis: exchangeable copper fraction. Ann Transl Med. 2019;7:16.

Đã xuất bản 24-01-2025
Toàn văn
pdf (English)     0    0
Ngôn ngữ
Số tạp chí Số 72 (2021)
Phân mục Báo cáo trường hợp
DOI 10.38103/jcmhch.2021.72.12
Từ khóa Keywords: Wilson’s disease, coper, liver, cerebellum.

Creative Commons License

công trình này được cấp phép theo Creative Commons Attribution-phi thương mại-NoDerivatives 4.0 License International .

Bản quyền (c) 2021 Tạp chí Y học lâm sàng Bệnh viện Trung Ương Huế

Hang, T. V. D. (2025). A case of wilson’s disease presenting with cerebellar ataxia. Tạp Chí Y học lâm sàng Bệnh viện Trung Ương Huế, (72), 67–70. https://doi.org/10.38103/jcmhch.2021.72.12