Synovial Chondromatosis with Genu Valgum in a Patient of Wilson's Disease.

Introduction: Wilson's disease is an autosomal recessive condition where excessive amount of copper accumulates in the body, especially in the liver, brain, and eyes. It is caused by a mutation in the ATP7B gene on chromosome 13. In 25-30% of patients, joint involvement occurs at the later course of disease; osteoarthritis being the commonest manifestation. Synovial chondromatosis (SC) is a benign metaplasia which occurs in the synovial membrane and it results in the formation of intra-articular loose bodies (LB), but its occurrence in a patient of Wilson's disease has not yet been reported in medical literature. Case Report: A young male in his 30s, a diagnosed case of Wilson's disease on maintenance therapy of d-penicillamine, zinc, trientine, and lithium presented to the hospital with restriction of movement at the knee joints and a valgus deformity. Examination showed firm to hard globular swellings which were partly mobile around the knee joint. The Magnetic Resonance Imaging (MRI) findings were suggestive of a SC after which the patient underwent corrective surgery and debridement and removal of the LB and a histopathology report confirmed the diagnosis. The patient was followed up at 12 weeks and was found to have pain-free movements with minimal support. His 24-h urinary copper excretion was found to be within normal limits and his maintenance therapy was optimized. The patient was initiated on speech therapy for his persistent slurring of speech and psychiatric counseling for rehabilitation in social and personal life. The patient was advised for 6 monthly follow-up. Conclusion: This case summarizes the unique presentation of SC with genu valgum in a patient of Wilson's disease and hence warrants a keen eye for the physician and orthopedician alongside osteoarthritis; which has been widely reported in Wilson's disease, thus providing an opportunity for early correction of valgus deformity of the subject.