Wilson’s disease presenting with polyneuropathy: a case report

Background: Wilson’s disease (WD) is an inherited autosomal recessive disease affecting copper metabolism in the body. Nearly all neurological symptoms are attributed to the central nervous system, while peripheral neuropathy is rare. Case presentation: A 48-year-old male presented with progressive muscle weakness and atrophy in distal extremities for 7 months. Pure distal motor axonal neuropathy was confirmed by electromyography. Extremely low serum ceruloplasmin level was detected accidentally and gene screening of ATP7B found two known compound heterozygous mutations (c.3859G>A p.(Gly1287Ser), c3155C>T p.(Pro1052Leu)). However, the patient had no typical symptoms or signs of WD. Brain MRI was unremarkable. B ultrasound only revealed mild liver steatosis. He responded well to penicillamine treatment. Electromyography showed nearly normal results 1 year later. Conclusion: WD can present with pure peripheral neuropathy, rendering diagnostic challenging to this disease. Routine serum ceruloplasmin testing seems justifiable for patients with peripheral neuropathy of undetermined cause.