DOI: 10.36347/sjmcr.2024.v12i06.005

Pages: 1001-1003

The accumulation of copper in the liver, brain, cornea, and kidneys is the hallmark of Wilson's disease, an uncommon autosomal recessive condition. There is no community-based research on the prevalence and incidence of Wilson's disease in India; this study is hospital-based. Overview of the Case: A 10-year-old girl with serious complaints of burning micturition, giddiness, loose stools and blood in stools, yellowish discolouration of skin and sclera, generalized body aches, fever and stomach pain with distension was brought to the paediatric department. Wilson's illness was established by abdominal USG using the increased levels of urine copper, whole blood picture, liver function tests, and serum electrolytes and decreased levels of ceruloplasmin. The prominent characteristic, which is less common in youngsters, is the Kayser Fleisher ring. It is identified by a discoloration of the corneal edge that is greenish-brown in colour and eventually goes away with treatment. Probiotics, an antibiotic, a hepatoprotective drug, and copper chelators (D-penicillamine and zinc) were used in her treatment. Gradually she showed improvement in clinical signs and LFT levels.