Varied presentations of Wilson’s Disease in Childhood - A Case Series and Review of Literature

Authors

  • Richa Chaudhary Department of Paediatrics, Jawaharlal Nehru Medical College, Datta Meghe Institute of Medical Sciences (DMIMSDU), Sawangi (Meghe), Wardha, Maharashtra, India
  • Sham Lohiya Department of Paediatrics, Jawaharlal Nehru Medical College, Datta Meghe Institute of Medical Sciences (DMIMSDU), Sawangi (Meghe), Wardha, Maharashtra, India https://orcid.org/0000-0003-0839-1168
  • Keta Vagha Department of Paediatrics, Jawaharlal Nehru Medical College, Datta Meghe Institute of Medical Sciences (DMIMSDU), Sawangi (Meghe), Wardha, Maharashtra, India
  • Sachin Damke Department of Paediatrics, Jawaharlal Nehru Medical College, Datta Meghe Institute of Medical Sciences (DMIMSDU), Sawangi (Meghe), Wardha, Maharashtra, India https://orcid.org/0000-0002-2517-1995

DOI:

https://doi.org/10.3126/jnps.v41i2.31904

Keywords:

d-penicillamine, different manifestations, Wilson’s disease

Abstract

Wilson’s disease is an autosomal recessive disorder of copper metabolism associated with deposition of copper in various organs including the heart and the brain. Hepatic manifestations are the commonest but various extrahepatic manifestations are known which include neuropsychiatric features, haemolytic anaemia, arthropathy etc. Knowledge of all these manifestations result in early clinical suspicion and the diagnosis of Wilson’s disease is confirmed by increased urinary copper levels and decreased serum cerruloplasmin level. Other tests which can be done to confirm the diagnosis include molecular testing and liver copper estimation. Once diagnosed, Wilson’s disease should be treated with chelating agents (e.g. d-penicillamine) and restriction of dietary copper. Timely treatment with zinc acetate or d-penicillamine prevents progression of the disease in asymptomatic children. Adequate chelation also results in good overall prognosis even in symptomatic children. Here we report a case series of nine children with different manifestations of Wilson’s disease throwing more light on the subject.

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Author Biographies

Sham Lohiya, Department of Paediatrics, Jawaharlal Nehru Medical College, Datta Meghe Institute of Medical Sciences (DMIMSDU), Sawangi (Meghe), Wardha, Maharashtra, India

Associate Professor

Department of Pediatrics

Jawaharlal Nehru Medical College

Datta Meghe Institute of Medical Sciences(DMIMSDU)

Sawangi(Meghe), Wardha

Maharashtra

Keta Vagha, Department of Paediatrics, Jawaharlal Nehru Medical College, Datta Meghe Institute of Medical Sciences (DMIMSDU), Sawangi (Meghe), Wardha, Maharashtra, India

Assistant Professor 

Department of Pediatrics

Jawaharlal Nehru Medical College

Datta Meghe Institute of Medical Sciences(DMIMS DU)

Sawangi(Meghe)

Wardha, Maharashtra

Sachin Damke, Department of Paediatrics, Jawaharlal Nehru Medical College, Datta Meghe Institute of Medical Sciences (DMIMSDU), Sawangi (Meghe), Wardha, Maharashtra, India

Professor

Department of Pediatrics

Jawaharlal Nehru Medical College

Datta Meghe Institute of Medical Sciences(DMIMS DU)

Sawangi(Meghe)

Wardha, Maharashtra

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Published

2021-11-03

How to Cite

Chaudhary, R., Lohiya, S., Vagha, K., & Damke, S. (2021). Varied presentations of Wilson’s Disease in Childhood - A Case Series and Review of Literature. Journal of Nepal Paediatric Society, 41(2), 258–265. https://doi.org/10.3126/jnps.v41i2.31904

Issue

Section

Case Series