Osteoarticular manifestations as initial symptoms of WD with novel compound heterozygote mutations in the ATP7B gene: a case report

ABSTRACT: Wilson disease (WD) is a rare autosomal recessive disease characterized by hepatic, neurologic and psychiatric, and variable manifestations. Skeletal and articular manifestations are usually overlooked at an early stage in WD patients, which have an effect on therapeutic outcome and prognosis. We report a 13-year-old girl of Chinese Han ethnicity with arthralgia and fracture as initial symptoms of WD. Laboratory tests showed her 1:80 of antinuclear antibodies (ANA). The patient was diagnosed with oligoarticular juvenile idiopathic arthritis (JIA) and treated with 10 mg of methotrexate (MTX) every week and diclofenac sodium every day. Her symptoms showed no improvement over 6 months and her medications were ceased. Then the patient presented to our department with a 3-week history dysarthri

SUBMITTER: Li J 

PROVIDER: S-EPMC8107867 | biostudies-literature | 2021 Apr

REPOSITORIES: biostudies-literature