Wilson’s disease manifesting as refractory rickets

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.

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Publication Details

Journal
BMJ Case Reports
Published
2025-01-01
DOI
https://doi.org/10.1136/bcr-2024-260587
Primary Topic
Trace Elements in Health
Type
article
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article

Wilson’s disease manifesting as refractory rickets

Arjun Bal Kallupurakkal, Rajarshi Chakraborty, Rajesh Verma
BMJ Case Reports
Trace Elements in Health
article

Wilson’s disease manifesting as refractory rickets

Arjun Bal Kallupurakkal, Rajarshi Chakraborty, Rajesh Verma
article en

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.

BMJ Case ReportsVol. 18(1)
King George's Medical University (IN)
Good health and well-being
Openalex Percentile: Top 100%
Trace Elements in Health
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