Wilson’s Disease: Timely Diagnosis Is Real Challenge

Abstract

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.

Case Report- A fourteen-year-old male presented with headache, generalized weakness and low mood level for last six months. He was seen by some local physician first who advised for routine labs and ultrasonogram (USG) abdomen which revealed mild transaminitis with normal USG.  At this point, patient was referred to our department. On clinical examination, he had mild pallor, local eye examination showed suspected Kayser -Fleischer ring. The systemic examination including cardiovascular, chest, neurological and per-abdominal examination was essentially normal. The MRI brain showed bilateral basal ganglia calcification. The 24- hour urinary copper excretion was raised with low serum ceruloplasmin level. The fundus examination confirmed K-F rings. The upper gastro-intestinal endoscopy was normal and Fibroscan score was 9.2 Kpa, suggestive of significant fibrosis (F3) pattern. He was started on D-penicillamine (20 mg/Kg body weight) and 25 mg tid zinc and was symptomatically and biochemically better on follow up after three 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.