ESPE Abstracts

Wilson disease (WD) is a relatively common genetic hepatic disease in pediatric area and is characterized by excessive copper accumulation, predominantly in the liver and brain. It is an autosomal recessive disease caused by an ATP7B mutation that causes brain degeneration and is potentially fatal if diagnosed late or untreated. In the early phase of WD, its initial presentation may include mild hepatic involvement that may not be noticable. In obese patients, WD could be overlooked as a cause of liver disease due to severe obesity but should not be excluded from differential diagnosis. We report a case of WD with severe obesity and fatty liver diagnosed in the early phase by targeted gene panel sequencing and review the common endocrine problems associated with WD. Early detection of WD by an pediatric endocrinologist would be most important for good prognosis.