Wilson disease diagnosed incidentally by targeted gene panel sequencing in a Korean boy with severe obesity

Wilson disease (WD) is a relatively common genetic hepatic disease in children that is characterized by excessive copper accumulation, predominantly in the liver and brain. It is an autosomal recessive disease caused by the mutation of ATP7B that is potentially fatal if diagnosed late or untreated owing to degenerative aspects in the brain. In the early phase of WD, its initial presentation may include a mild hepatic involvement. WD may be overlooked as a cause of liver disease due to severe obesity, but should not be excluded from the differential diagnosis. We report a case of WD with severe obesity and fatty liver diagnosed in the early phase by targeted gene panel sequencing. We reviewed the endocrine problems associated with WD. Early suspicion of WD is important to improve prognosis.