PT  - JOURNAL ARTICLE
AU  - Bhadada, Sanjay
AU  - Malhotra, Bhanu
AU  - Shetty, Anirudh
AU  - Mukherjee, Soham
TI  - Metabolic bone disease heralding the diagnosis of Wilson’s disease
AID  - 10.1136/bcr-2022-252290
DP  - 2023 Jul 01
TA  - BMJ Case Reports
PG  - e252290
VI  - 16
IP  - 7
4099  - http://casereports.bmj.com/content/16/7/e252290.short
4100  - http://casereports.bmj.com/content/16/7/e252290.full
SO  - BMJ Case Reports2023 Jul 01; 16
AB  - 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.