Paediatric Wilson’s Disease: A Case Series

Introduction: Wilson’s disease (WD) is a potentially fatal rare copper metabolism disorder which leads to copper accumulation in organs such as liver, brain, and cornea. Prompt diagnoses and treatments help prevent complications, improve patients’ quality of life, and ensure a normal life expectancy. The clinical presentations and outcomes of WD can vary within a single family. First Case: We describe a twelve-year-old boy who presented with jaundice, haemolytic anemia, and advanced fibrosis (fibroscan 56.4 kPa) and on detailed investigations was diagnosed with exome confirmed Wilson’s disease. He had recurrent episodes of decompensation but wellplanned, eighteen-month multimodal therapy including D-penicillamine, zinc, carvedilol, and plasma exchange yielded dramatic improvement which was evidenced by symptomatic recovery as well as substantial decrease in fibroscan score from 56.4 kPa to 9.3 kPa, with normalized bilirubin and near-normal transaminases. The family history was significant and his elder sister died of WD, few years back but no family screening was done at that point of time, highlighting screening gaps. The parents are asymptomatic but yet to be screened for WD due to financial constraints. This case demonstrates fibrosis reversibility in children with aggressive early intervention. Second Case: A sixteen-year-old male presented with backache, generalized weakness and low mood level for last three months. He was seen by pain physician first who advised for routine labs and ultrasonogram abdomen which revealed altered echotexture of liver with multiple regenerative nodules. Thus, on detailed evaluation for cirrhosis liver was done and on same he was diagnosed to be having Wilson’s disease, on basis of increased 24- hour urinary copper excretion, low serum ceruloplasmin levels and liver biopsy. The upper gastro-intestinal endoscopy showed low grade oesophageal varices and Fibroscan score was 31 Kpa, suggestive of cirrhotic pattern. He was started on D-penicillamine and Zinc and was symptomatically better on follow up after two months. Conclusion: Wilson’s disease can have varied manifestations and can be easily missed in early stages. The timely diagnosis and initiation of management can lead to significant fibrosis reversibility. Early diagnosis and family awareness can prevent fatal outcomes. Keywords: Wilson’s disease, Pediatric, Fibrosis regression, D- penicillamine, Kayser-Fleischer rings, Exome sequencing