Wilson disease: early screening for better living


  • Maha Lakshmi Jagatha Department of Pediatrics, Sri Manakula Vinayagar Medical College and Hospital, Kalitheerthalkuppam, Puducherry, India
  • Arulkumaran Arunagirinathan Department of Pediatrics, Sri Manakula Vinayagar Medical College and Hospital, Kalitheerthalkuppam, Puducherry, India
  • Bondada Hemanth Kumar Department of Pediatrics, Sri Manakula Vinayagar Medical College and Hospital, Kalitheerthalkuppam, Puducherry, India




Consanguinity, Screening, Wilson disease


Autosomal recessive diseases are more common among consanguineous marriages noted particularly in southern parts of India. There is a gradual increase in the genome wide homogenecity with the increasing levels of consanguinity. Here we are reporting a case series of such an autosomal recessive condition, namely Wilson Disease (WD), where three children were affected with the disease, who were born out of consanguineous marriages. The first case presented with neuropsychiatric manifestations, the second case and third cases were diagnosed through screening of family members leading to earlier identification of the disease. In these cases consanguinity has been emphasised as the major predisposing factor leading to their manifestations. This case series highlights the importance of screening the other family members of the index case. Conditions such as Wilson disease have an excellent prognosis if pharmacotherapy is initiated appropriately.


Shah I, Magdum N. Serum Ceruloplasmin in Wilson’s Disease in Indian Children-what should be the cut off? Tropical Gastroenterology. 201715;38(1):24-8.

European Association For The Study Of The Liver. EASL clinical practice guidelines: Wilson’s disease. J Hepatol. 2012;56(3):671-85.

Taly AB, Prashanth LK, Sinha S. Wilson's disease: An Indian perspective. Neurol India. 20091;57(5):528.

Sokol RJ. Copper metabolism and copper storage disorders. In Liver Disease in Children. Cambridge (UK): Cambridge University Press; 2014:465-492.

Ala A, Schilsky ML. Wilson disease: pathophysiology, diagnosis, treatment, and screening. Clinics in liver disease. 2004;8(4):787-805.

Rukunuzzaman M. Wilson's disease in Bangladeshi children: analysis of 100 cases. Pediatric gastroenterology, hepatology& nutrition. 2015;18(2):121-7.

Noureen N, Rana MT. Neurological Wilson disease in children: a three years experience from Multan. JPMA. 2011;61(8):743.

Ala A, Borjigin J, Rochwarger A, Schilsky M. Wilson disease in septuagenarian siblings: raising the bar for diagnosis. Hepatology. 2005;41(3):668-70.

Kavitha K. A study to assess the effectiveness of structured teaching programme regarding effects of consanguineous marriage on fetus, among young adult women in the selected science college, Bangalore (Doctoral dissertation, RGUHS).

Mehrjoo Z, Fattahi Z, Beheshtian M, Mohseni M, Poustchi H, Ardalani S, et al. Distinct genetic variation and heterogeneity of the Iranian population. PLoS Gene. 2019;15(9).

Socha P, Janczyk W, Dhawan A, Baumann U, D’antiga L, Tanner S, et al. Wilson's disease in children: a position paper by the Hepatology Committee of the European Society for Paediatric Gastroenterology, Hepatology and Nutrition. J Pediatr Gastroenterol Nutr. 2018;66(2):334-44.

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.

Ferenci P. diagnosis and current therapy of Wilson's disease. Aliment Pharmacol Therapeut. 2004;19(2):157-65.

Mishra D, Kalra V, Seth R. Failure of prophylactic zinc in Wilson disease. Ind Pediatr. 2008;45(2):151.






Case Reports