Wilson's disease manifesting as refractory rickets

BMJ Case Rep. 2025 Jan 8;18(1):e260587. doi: 10.1136/bcr-2024-260587.

Abstract

Wilson's disease is a metabolic disorder affecting the liver, brain, skin and osteo-muscular organs. Refractory rickets is an unusual phenomenon in Wilson's disease. This 27-year-old man was primarily treated for rickets for 20 years without success and later developed features of tremulousness of limbs and dysphonia when he was evaluated for Wilson's disease. On treatment with a chelating agent, he showed clinical improvement neurologically. This case report emphasises on the consideration of Wilson's disease early in a case of rickets for better clinical outcome.

Keywords: Medical education; Medical management.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Chelating Agents / therapeutic use
  • Hepatolenticular Degeneration* / complications
  • Hepatolenticular Degeneration* / diagnosis
  • Hepatolenticular Degeneration* / drug therapy
  • Humans
  • Male
  • Rickets* / diagnosis
  • Rickets* / drug therapy

Substances

  • Chelating Agents