Objective: The aim of this study is to describe a patient with late-onset Wilson’s disease, dementia and Ekbom Syndrome.

Background: Wilson’s disease is an autosomal-recessive disorder due to a mutation in the ATP7B gene, causing impairment of biliary excretion of copper and its accumulation, first in the liver but ultimately in the brain and other tissues. Ekbom syndrome is characterized by a firm conviction by the patient that he/she is infested by parasites which come out of the skin, mouth, eyes or genital region.

Methods: We report the case of a patient with an atypical presentations of Wilson’s disease with Ekbom syndrome.

Results: A 69 year-old man with chronic liver disease was referred to the Neurology group to investigate cognitive impairment, mostly executive complaints and deficits of episodic memory that had started 3 years previously. Neurological examination showed only flapping tremor. On follow-up the patient worsened and became agitated, aggressive and confused. After 6 months he started saying there were bugs moving through his skin, which were not observed by his relatives. Subsequently he developed extrapiramidal signs, with bradikynesia and muscle stiffness. Brain MRI showed diffuse white matter hyperintensities and cortical atrophy. Total serum ceruluplasmin was low in 2 occasions: 6.9 and 11. Ophthalmologic evaluation showed Kayser-Fleischer rings in both eyes. The diagnosis of Wilson’s disease was made and D-penicilamine was initiated, without clinical response.

Conclusions: Ekbom syndrome is normally related to psychiatric conditions or dementia, but its presence should raise the suspicion of other neurodegenerative disorders as it can appear before other classical signs. Although late-onset Wilson’s disease is rare and usually doesn’t present with initial dementia, it may have an atypical course. It should be included in the differential diagnosis work-up of dementia, especially because it is a potentially treatable if diagnosed in the early stages.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/late-onset-wilsons-disease-dementia-ekbom-syndrome-and-whitte-matter-hyperintensities/