Year: 2025
Type: article
Study design: Case Report
Abstract: 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.
Source: Brain Conflux
DOI: 10.71321/331kms87
Authors: Wei Gui, Fengqing Lu, Yimin Sun, Abhijeet Kumar Bhekharee, Yue Zhang
Language: English
Topic: Trace Elements in Health
Subfield: Nutrition and Dietetics
Field: Nursing
Domain: Health Sciences
Open Access status: hybrid
OpenAlex ID: W4409538419