Naghi Dara; Amirhossein Hosseni; Saleheh Tajalli; Mohammad Amin Shahrbaf; Ali Akbar Sayyari; Farid Imanzadeh; Katayoun Khatami; Pejman Rohani; Maliheh Khodami; Maryam Kazemi Aghdam
Abstract
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 ...
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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.
