|تاریخ چاپ: 1399/05/14|
|Creatinine Phosphokinase (CPK) Elevation in the Coexistence of Wilson's Disease and Autoimmune Hepatitis with Atypical Presentation: A Diagnostic Dilemma|
|Author(s):||Naghi Dara، Amirhossein Hosseini *، Saleheh Tajalli، Mohammad Amin Shahabaf، Ali Akbar Sayyari، Farid Imanzadeh، Katayoun Khatami، Pejman Rohani، Maliheh Khodami، Maryam Kazemi Aghdam|
BackgroundWilson'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.
ConclusionAlthough 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.
|Keywords:||Autoimmune hepatitis، Atypical presentation، Children، Coexistence، Wilson disease|
|Article Type:||Case Report|
|Published:||International Journal of Pediatrics, Volume:6 Issue: 60, 2018|
|Full text:||PDF is available on the website.|