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Early white matter changes in Wilson disease.

Archana Verma1, N N Singh, S Misra

  • 1Department of Neurology, Institute of Medical Sciences, Banaras Hindu University, Varanasi-2.

The Journal of the Association of Physicians of India
|January 14, 2005
PubMed
Summary

This case report highlights a 12-year-old boy with cognitive decline and movement issues, diagnosed with Wilson disease. Early white matter changes on MRI are noted as a key feature in this pediatric neurological disorder.

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Area of Science:

  • Neurology
  • Pediatric Neurology
  • Neuroimaging

Background:

  • Wilson disease is a rare genetic disorder causing copper accumulation.
  • Neurological and psychiatric symptoms are common, often presenting in adolescence or early adulthood.
  • Early diagnosis and treatment are crucial to prevent irreversible organ damage.

Observation:

  • A 12-year-old male presented with a year of cognitive decline and extrapyramidal symptoms.
  • Magnetic Resonance Imaging (MRI) revealed characteristic signal abnormalities.
  • These included increased T2-weighted signal intensity in the basal ganglia and supratentorial and infratentorial gray and white matter.

Findings:

  • Biochemical studies and MRI confirmed the diagnosis of Wilson disease.
  • The patient exhibited early-onset white matter changes, a less commonly emphasized finding.

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  • MRI findings correlated with the clinical presentation of neurological impairment.
  • Implications:

    • This case underscores the importance of considering Wilson disease in pediatric patients with unexplained neurological and cognitive symptoms.
    • Early detection of white matter changes on MRI may aid in prompt diagnosis and management.
    • Understanding the spectrum of MRI findings in Wilson disease is vital for effective patient care and prognosis.