Wilson’s Disease: Diagnosis in Novel Way

Wilson's disease first described by Kinnier Wilson in 1912, is a rare autosomal recessive genetic disorder involving a defect in copper metabolism. This disease affects between one in 30,000 to one in 100,000 individuals and has a carrier frequency of one in every 90. It is characterized by hepatic and neurological symptoms. The usual age of presentation is 4 to 40 years but this disorder has been detected in children as young as three years and adults as old as 70 years with males and females being equally affected. Diagnosing Wilson's disease at the earliest is crucial as it is not only progressive and fatal if untreated, but also responds promptly to medication. Here we are going to present a novel way to diagnose a case of Wilson disease in a resource-limited setting. The diagnosis was possible with detailed present and past history raising strong clinical suspicion of environmental or genetically related disease. The diagnosis was done in a novel way by first diagnosing in daughter thereafter confirming the same diagnosis in patient.