RT Journal Article
SR Electronic
T1 Metabolic bone disease heralding the diagnosis of Wilson’s disease
JF BMJ Case Reports
JO BMJ Case Reports
FD BMJ Publishing Group Ltd
SP e252290
DO 10.1136/bcr-2022-252290
VO 16
IS 7
A1 Bhadada, Sanjay
A1 Malhotra, Bhanu
A1 Shetty, Anirudh
A1 Mukherjee, Soham
YR 2023
UL http://casereports.bmj.com/content/16/7/e252290.abstract
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.