Creatinine Phosphokinase (CPK) Elevation in the Coexistence of Wilson's Disease and Autoimmune Hepatitis with Atypical Presentation: A Diagnostic Dilemma

Background: wilson's disease (wd) is a genetic disorder with various clinical presentations due to excessive accumulation of copper in the liver and other organs. it can present as acute/chronic hepatitis, liver failure, extrahepatic and neuromuscular manifestations. autoimmune hepatitis (aih) is a necroinflammatory disease of the liver, which affects a lot of people particularly the children population. aih has a broad clinical presentation that is similar to wd. coexistence of wd with elevated creatinine phosphokinase (cpk) and aih, may be a diagnostic dilemma. case report: we presented a 6 years old boy with dysarthria, aggressive behavior, weak attention, concentration and weight loss with abnormal physical examination. laboratory, histochemical, genomic studies, muscle/liver biopsy and atomic absorption test confirmed the diagnosis of both wd and aih in the boy. conclusion although cpk and liver enzyme elevation is a rare presentation of chronic hepatitis with dominant feature of wd and aih; however, simultaneous therapy with immunosuppressive drugs and penicillamine may have superior benefit with a significant response.