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

• Main Authors: Naghi Dara, Amirhossein Hosseni, Saleheh Tajalli, Mohammad Amin Shahrbaf, Ali Akbar Sayyari, Farid Imanzadeh, Katayoun Khatami, Pejman Rohani, Maliheh Khodami, Maryam Kazemi Aghdam
• Format: Article
• Language: English
• Published: Mashhad University of Medical Sciences 2018-12-01
• Series: International Journal of Pediatrics
• Subjects: Autoimmune hepatitis; Atypical presentation; Children; Coexistence; Wilson disease
• Online Access: http://ijp.mums.ac.ir/article_11233_47120450b8b730eeb265b444b82981b3.pdf
• ISSN: 2345-5047; 2345-5055

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.