Neurological presentation of Wilson’s disease without overt hepatic involvement

Sunita Arora, Arshpuneet Kaur


Wilson disease (hepatolenticular degeneration) is a rare autosomal recessive disease. Here, we report a child affected by Wilson disease with only neurological manifestations without hepatic involvement.  


Kayser Fleischer ring, S. Ceruloplasmin, Panda sign

Full Text:



Ferenci P. Review article: diagnosis and current therapy of Wilson's disease. Aliment Pharmacol Ther. 2004;19(2):157-61.

Huster D. Wilson’s disease. Best Pract Res Cl Ga. 2010;24(5):531–39.

Cho YH, Jeong DW, Lee SY, Park SK, Yoon KT, Kim YJ, et al. A Case of Wilson's Disease in Patient with Mildly Elevated Liver Enzymes. Korean J Fam Med. 2011;32(3):205-8

Taksande A, Parihar PH, Tayade A, Vilhekar KY. MR Imaging of the Wilson’s Disease. JK Science. 2009;11:150-1

Wilson SAK. Progressive lenticular degeneration: a familial nervous disease associated with cirrhosis of the liver. Brain. 1912;34:295-509.

Ronald F. Pfeiffer. Wilson’s Disease. Semin Neurol. 2007;27(2):123-32.

Eisenbach C, Sieg O, Stremmel W, Encke J, Merle U. Diagnostic criteria for acute liver failure due to Wilson disease. World J Gas troenterol. 2007;13(11):1711-4

Merle U, Schaefer M, Ferenci P, Stremmel W. Clinical presentation, diagnosis and long-term outcome of Wilson's disease: a cohort study. Gut. 2007;56:115-20

Strickland GT, Leu ML. Wilson’s disease: clinical and laboratory manifestations in 40 patients. Medicine. 1975;54:113–37

Ferenci P, Caca K, Loudianos G, Mieli-Vergani G, Tanner S, Sternlieb I, Schilsky M, Cox D, Berr F: Diagnosis and phenotypic classification of Wilson disease. Liver Int. 2003;23(3):139-42.

Merle U, Schaefer M, Ferenci P, Stremmel W: Clinical presentation, diagnosis and long-term outcome of Wilson’s disease: a cohort study. Gut. 2007;56(1):115-20.