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Wilson's disease in Eastern India.

S Sinha1, D K Jha, K K Sinha

  • 1Department of Neurology, Advanced Diagnostic Centre, Jharkhand, India.

The Journal of the Association of Physicians of India
|February 12, 2002
PubMed
Summary
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Wilson's disease, an inherited copper metabolism disorder, presents with varied neurological symptoms. Early diagnosis and lifelong treatment are crucial, though initial deterioration and suboptimal response were observed in this Eastern India study.

Area of Science:

  • Neurology
  • Genetics
  • Metabolic Disorders

Background:

  • Wilson's disease is an inherited autosomal recessive disorder of copper metabolism.
  • It results from a mutant gene on chromosome 13q14-21, leading to abnormal copper accumulation.
  • The disorder manifests in diverse clinical presentations.

Purpose of the Study:

  • To investigate the clinical, biochemical, and radiological features of Wilson's disease in Eastern India.
  • To evaluate the treatment outcomes for patients with Wilson's disease.

Main Methods:

  • A 10-year study of 49 patients diagnosed with Wilson's disease.
  • Clinical assessment, biochemical tests (serum copper, ceruloplasmin), and neuroimaging (CT/MRI) were performed.
  • Sibling screening was conducted to identify presymptomatic cases.

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Main Results:

  • The majority of patients were male, with a mean age of onset of 11.13 years.
  • Common presenting symptoms included dystonia, dysarthria, and cognitive decline.
  • Biochemical findings revealed reduced serum copper (77%) and ceruloplasmin (94%). Neuroimaging showed basal ganglia abnormalities in 74% of cases.
  • Fifty percent of patients experienced initial deterioration with treatment, and only five returned to school.

Conclusions:

  • Wilson's disease presents with protean manifestations, necessitating investigation in children with extrapyramidal syndromes.
  • Screening of asymptomatic siblings is vital for early detection.
  • Early, lifelong treatment is indicated, despite observed initial deterioration and variable response rates in this cohort.