Case Report

Familial Mediterranean Fever Mimic Wilson’s Disease: A Case Report

10.4274/jpr.63308

  • Caner Turan
  • Miray Karakoyun
  • Çiğdem Ömür Ecevit
  • Funda Yılmaz
  • Sema Aydoğdu

J Pediatr Res 0;0(0):0-0 [e-Pub]

Wilson disease (hepatolenticular degeneration) is an autosomal recessive defect in cellular copper transport. Impaired biliary copper excretion leads to accumulation of copper in mostly liver, brain, and cornea. Familial Mediterranean Fever (FMF) is an autosomal recessive autoimmune disease as a result of a mutation in MEFV gene encoding pyrin protein characterized by recurring fever, polyserositis attacks. In this report, we describe a Turkish female child with cholestatic hepatitis of unknown etiology and later diagnosed with typical FMF.

Keywords: Familial Mediterranean Fever,FMF,Wilson’s disease,liver,cryptogenic cirrhosis,cholestasis