Amirhossein Hosseini
Shahid Beheshti University of Medical Science, Tehran, Iran
Title: Creatinine Phosphokinase (CPK) Elevation in the Coexistence of Wilson's disease and Autoimmune Hepatitis with Atypical Presentation: A Diagnostic Dilemma
Biography:
Dr Amirhossein Hosseini has his expertise in field of pediatric gastroenterology and hepatology.
Abstract:
Statement of the Problem: 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 necro-inflammatory 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: 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 & Significance: 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.