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Wilson's disease manifesting as refractory rickets
Rajesh Verma1, Arjun Bal Kallupurakkal1, Rajarshi Chakraborty2
1Neurology, King George's Medical University, Lucknow, Uttar Pradesh, India.
BMJ Case Reports
|January 8, 2025
Summary
Wilson's disease, a metabolic disorder, can present with refractory rickets. Early diagnosis and chelating agent treatment led to neurological improvement in a patient with long-standing rickets.
Area of Science:
- Metabolic disorders
- Neurology
- Pediatric and adult bone diseases
Background:
- Wilson's disease is a rare genetic disorder of copper metabolism.
- It typically affects the liver and brain, but can manifest in other organs.
- Refractory rickets is an uncommon but significant presentation of Wilson's disease.
Observation:
- A 27-year-old male presented with a 20-year history of treatment-resistant rickets.
- He later developed neurological symptoms including limb tremors and dysphonia.
- Wilson's disease was diagnosed during his medical evaluation.
Findings:
- The patient received treatment with a chelating agent.
- Neurological symptoms showed significant clinical improvement following treatment.
- This case highlights the importance of considering Wilson's disease in refractory rickets.
Implications:
- Early diagnosis of Wilson's disease in patients with refractory rickets is crucial.
- Prompt treatment can lead to better neurological outcomes.
- This case underscores the need for a broader differential diagnosis in complex bone disorders.
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