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Wilson’s disease: neuropsychiatric presentation and delayed diagnosis
  1. Palvasha Deme1,
  2. Adam Sheffield2 and
  3. Sasha Alick-Lindstrom2
  1. 1Department of Plastic Surgery, UT Southwestern, Dallas, Texas, USA
  2. 2Department of Neurology, UT Southwestern, Dallas, Texas, USA
  1. Correspondence to Palvasha Deme; palvasha.deme{at}utsouthwestern.edu

Abstract

A woman in her 30s with unclear history of cirrhosis presented to the emergency department with 8 months of worsening bilateral hand tremors, falls, depressed mood, altered mental status, difficulty swallowing and faecal/urinary incontinence. The patient was diagnosed with liver cirrhosis 6 years prior based on outside hospital ultrasound and liver biopsy. The hospital inpatient neurology team was promptly consulted for evaluation of worsening mental status. Kayser-Fleischer rings were visible without slit-lamp examination on clinical exam, as were prominent hand tremors and ataxia on finger–nose–finger task. Brain MRI showed increased T2/FLAIR (fluid-attenuated inversion recovery) signal within the thalami, midbrain and pons demonstrating a ‘double panda sign’. Laboratory findings confirmed a diagnosis of Wilson’s disease. Penicillamine and subsequent zinc therapy were initiated. Patient was eventually discharged home with plans for outpatient physical therapy and hepatology management. Two months from presentation, the patient reported significant improvement in ataxia, motor function, swallow function and incontinence.

  • Neurology
  • Movement disorders (other than Parkinsons)
  • Neuroimaging
  • Public health

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Footnotes

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  • Contributors PD was the medical student on service and first author for this case report, leading the writing of the manuscript. AS was the chief resident during the case, actively involved in patient management and review of manuscript. SA-L was the attending physician of care for the Neurology Service. She guided management, decision-making and assisted with drafting/review of this manuscript.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Case reports provide a valuable learning resource for the scientific community and can indicate areas of interest for future research. They should not be used in isolation to guide treatment choices or public health policy.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed.