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Metabolic bone disease heralding the diagnosis of Wilson’s disease
  1. Sanjay Bhadada,
  2. Bhanu Malhotra,
  3. Anirudh Shetty and
  4. Soham Mukherjee
  1. Endocrinology, Post Graduate Institute of Medical Education and Research, Chandigarh, India
  1. Correspondence to Sanjay Bhadada; bhadadask{at}


We report a short-statured, young man in his 20s presenting with bilateral cataract, recurrent kidney stones, history of refractory rickets and bone deformity. He had been consuming calcium and vitamin D supplements and had been operated for cataract and renal stone disease, prior to reporting in our clinic without any significant laboratory or clinical improvement. The patient was diagnosed as having Fanconi’s syndrome attributable to Wilson’s disease. This patient highlights that in case of resistant rickets, a high index of suspicion must be invoked for Wilson’s disease. Timely recognition of this entity results in prompt ministrations and prevention of disability.

  • endocrine system
  • gastrointestinal system
  • musculoskeletal and joint disorders
  • renal system

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  • Contributors BM: conduct and reporting, SM: conception and design, AS: acquisition of data, SB: interpretation of data.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Case reports provide a valuable learning resource for the scientific community and can indicate areas of interest for future research. They should not be used in isolation to guide treatment choices or public health policy.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed.