5. Stroke in a young patient with Wilson's disease: the spectre of ‘re balanced hemostasis’

Javid, K.; Cg, Sridhar; Khan, Juned; Ts, Ramesh Kumar; Reddy, Ramcharan

doi:10.1016/j.jceh.2018.06.366

Cited by 1 publication

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“…Presentation with acute neurologic symptoms like dysarthria may suggest a stroke-like episode and a mitochondriopathy such as mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS). However, few studies have reported true stroke episodes [2][3][4][5][6]. We report an early and atypical case of Wilson's disease with a stroke episode.…”

Section: Introductionmentioning

confidence: 88%

“…Mutations in the ATP7B gene (NM_000053.4) were c.525dupA p.(Val176fs) and c.3244-2A>G. For these two patients, a clinical strokelike episode was mentioned and led to an incorrect diagnosis of MELAS until the results of brain MRI. In 2017, Javid et al [3] reported a 7-year-old boy, a priority patient on the liver transplant list, who experienced a sudden onset of decerebrate posturing and died. Cerebral computed tomography (CT) concluded that it was an acute frontal lobe venous infarct with midline shift.…”

Section: Case Presentationmentioning

confidence: 99%

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Stroke Episode in a Young Patient with Wilson’s Disease

2023

Arch Pediatr

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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.

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