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

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

doi:10.22038/ijp.2018.33235.2932

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

Authors

Naghi Dara ¹

Amirhossein Hosseni ¹

Saleheh Tajalli ²

Mohammad Amin Shahrbaf ³

Ali Akbar Sayyari ⁴

Farid Imanzadeh ⁵

Katayoun Khatami ¹

Pejman Rohani ¹

Maliheh Khodami ⁶

Maryam Kazemi Aghdam ⁶

¹ Assiatant Professor of Pediatric Gastroenterohepatology, Pediatric Gastroenterology, Hepatology and Nutrition Research Center, Research Institute for Children Health, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

² MSc of Neonatal Intensive Care, Neonatal Health Research Center, Research Institute For Children Health, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

³ Medical Student, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

⁴ Professor of Pediatric Gastroenterohepatology, Pediatric Gastroentrology, Hepatology and Nutrition Research Center, Research Institute For Children Health, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

⁵ Associated Professor of Pediatric Gasteroenterohepatology, Pediatric Gastroentrology, Hepatology and Nutrition Research Center, Research Institute for Children Health, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

⁶ Pediatric Pathology Research Center, Research Institute for Children Health , Shahid Beheshti University of Medical Sciences, Tehran, Iran.

10.22038/ijp.2018.33235.2932

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 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.

Keywords

Autoimmune hepatitis

Atypical presentation

Children

Coexistence

Wilson disease