Wilson’s disease: neuropsychiatric presentation and delayed diagnosis

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.