Wilson's disease

Diagnostic errors and clinical implications

L. K. Prashanth, A. B. Taly, S. Sinha, G. R. Arunodaya, H. S. Swamy

Research output: Contribution to journalArticle

68 Citations (Scopus)

Abstract

Background: Therapeutic outcome of Wilson's disease (WD) significantly depends upon its early recognition. However, because of its rarity in community and protean manifestations, the diagnosis and treatment are often delayed. Aim: To ascertain diagnostic errors at initial evaluation in these patients. Methods: Analysis of medical records of 307 patients of WD registered over 30 years was done regarding presenting manifestations, initial diagnostic omissions, and interval between onset of symptoms to diagnosis and treatment. Results: Of the 307 patients of WD diagnostic errors by referring doctors from different specialties of health care were detected in 192 patients. These were diverse and multiple and included schizophrenia, juvenile polyarthritis, rheumatic chorea, nephrotic syndrome, metachromatic leucodystrophy, congenital myopathies, subacute sclerosing panencephalitis, neurodegenerative disease among others. The mean (SD) delay was two (three) years (range: 0.08-30 years). Some of the interventions before establishment of correct diagnosis were electroconvulsive therapy, thalamotomy, antipsychotics, and surgical correction for bony deformity. While 98 patients were referred with correct diagnosis, only 16 were given specific treatment. Conclusion: Awareness among health professionals about varied presenting features of WD and high index of suspicion may have prognostic implications.

Original languageEnglish
Pages (from-to)907-909
Number of pages3
JournalJournal of Neurology, Neurosurgery and Psychiatry
Volume75
Issue number6
DOIs
Publication statusPublished - Jun 2004

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Hepatolenticular Degeneration
Diagnostic Errors
Chorea
Metachromatic Leukodystrophy
Myotonia Congenita
Subacute Sclerosing Panencephalitis
Electroconvulsive Therapy
Nephrotic Syndrome
Therapeutics
Neurodegenerative Diseases
Antipsychotic Agents
Arthritis
Medical Records
Schizophrenia
Delivery of Health Care
Health

ASJC Scopus subject areas

  • Neuropsychology and Physiological Psychology
  • Neuroscience(all)
  • Psychiatry and Mental health

Cite this

Wilson's disease : Diagnostic errors and clinical implications. / Prashanth, L. K.; Taly, A. B.; Sinha, S.; Arunodaya, G. R.; Swamy, H. S.

In: Journal of Neurology, Neurosurgery and Psychiatry, Vol. 75, No. 6, 06.2004, p. 907-909.

Research output: Contribution to journalArticle

Prashanth, L. K. ; Taly, A. B. ; Sinha, S. ; Arunodaya, G. R. ; Swamy, H. S. / Wilson's disease : Diagnostic errors and clinical implications. In: Journal of Neurology, Neurosurgery and Psychiatry. 2004 ; Vol. 75, No. 6. pp. 907-909.
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