Objective: To describe an atypical presentation of Wilson Disease.

Background: Wilson Disease is a rare autosomal recessive disorder that causes copper accumulation in the brain and other organs. Here we report an unusual case of rapidly progressive dementia due to late-onset Wilson Disease.

Method: A 56-year-old man presented with four months of progressive cognitive decline and fatigue. Specifically, his family reported progressive withdrawal from conversation until he was only responding to people in simple, one-word sentences. He had also experienced unsteadiness leading to a fall and more recently tremor. His medical history was notable for renal cell carcinoma and incidentally noted liver cirrhosis, thought to be from alcohol use. On exam, he had frequent yawning, absent verbal output, inability to follow complex commands, decreased facial expressions, left leg resting tremor, moderate bradykinesia, and wide based gait with spontaneous retropulsion.

Results: Initial screening labs including electrolyte, liver function tests, vitamin B12, TSH, HIV, and RPR were negative. MRI brain was read as unremarkable. Given the history of cirrhosis, serum ceruloplasmin was checked and returned low at 15 mg/dL (normal 18-36 mg/dL); 24-hour urine copper was elevated at 302 mg (normal 15-60 mg/dL). Slit lamp exam revealed Kayser-Fleischer rings. Genetic testing showed compound heterozygosity for mutations in ATP7B. The patient was treated with trientine. Levodopa was started due to persistent parkinsonism with subjective benefit. He had mild symptomatic improvement with treatment including increased verbal output and improvement in walking.

Conclusion: Wilson Disease can present with a wide variety of neurologic symptoms. Rapidly progressive cognitive decline, as in this case, are not widely reported. Movement disorders are especially common including cerebellar ataxia, dystonia, tremor, and parkinsonism. Less commonly, cognitive impairment and seizures can be seen. Screening for Wilson Disease should be considered in any syndrome with liver disease and neurologic symptoms, regardless of age. Symptomatic therapy for movement disorders including levodopa for parkinsonism, botulinum toxin for focal dystonia, and anticholinergics or VMAT-2 inhibitors, may provide benefit.

References: n/a

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MDS Abstracts - https://www.mdsabstracts.org/abstract/wilson-disease-presenting-as-rapidly-progressive-dementia/