Wilson disease: early screening for better living

ABSTRACT

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.