Stroke Episode in a Young Patient with Wilson’s Disease

Abstract

Wilson's disease is an autosomal recessive genetic disease with a copper metabolism disorder leading to hepatic, kidney, hematologic and neurologic symptoms. Stroke episodes in this pathology have not been described in the literature.We report a 13-year-old girl with Wilson's disease discovered on neurological presentation, quickly treated with trihexyphenidyl and trientine. She was heterozygous in the ATP7B gene with two pathogenic variants (c.2128 G>A and c.3188C>T). Three months later, an acute neurological episode with a left capsulolenticular ischemic stroke episode occurred. Brain magnetic resonance imaging revealed a new fluid-attenuated inversion recovery hypersignal in the left internal capsule and striatum. Her neurological deficit regressed completely at six months.Few studies have reported Wilson's disease patients with stroke-like episodes. No usual cause was found during neurologic explorations. Heart tests and coagulation were normal. Trientine and trihexyphenidyl are not known to generate stroke episodes. We here describe one of the first cases of stroke in Wilson's disease.