Objective: To report a patient with clinically diagnosed late-onset Wilson’s disease (WD).

Background: WD is an autosomal recessive disorder of copper biliary excretion caused by an impaired function of ATP7B. It is generally discovered in children or young adults, and neurological symptoms in WD typically begin in the second or third decade of life. There have been only a few reports of patients with late onset WD who became symptomatic after 50 years of age.

Method: Here, we report a patient with late-onset WD with hepatic and neurological manifestations.

Results: A 53-year-old woman was referred to our hospital with parkinsonism, which was developed several months before her visit. She complained of gait difficulty, especially festination, intermittent tremor of her hands and backward pulling of her neck. On neurologic examination, she had start hesitation, wide based gait but preserved arm swing, postural instability, dysarthria, postural tremor, and clumsiness of Left hand, but no limitation of extraocular muscle movement. Brain magnetic resonance image showed diffuse brain atrophy, which was more severe involvement of midbrain and frontal lobe, decreased midbrain to pons area ratio, and bilateral T2 hyperintensity involving medial thalamus. On brain F-18 FP-CIT positron emission tomography, dopamine transporter binding was mildly decreased in posterior portion of bilateral striatum. Initially, she was diagnosed with progressive supranuclear gaze palsy and started levodopa/benserazide 200/50 mg/day. A week later, she revisited our clinic and complained of frequent falls. Negative myoclonus was observed at the time and laboratory tests for WD were run. Serum ceruloplasmin and copper levels were noted to be below 4 mg/dL and 32.5 mg/dL, respectively. The 24-h urinary copper excretion was 311.2 mg/day. Abdomen computed tomography demonstrated liver cirrhosis with splenomegaly. Autoantibodies and virus markers for hepatitis were negative. Kayser-Fleischer ring was demonstrated. Therefore, we started with D-penicillamine (1000 mg/day) and pyridoxine (50 mg/day). Since then genetic tests for ATP7B, the causative gene for WD, confirmed pathogenic variant in exon 8 (p.Arg778Leu) and exon 15 (p.Leu1083Phe).

Conclusion: WD can be fatal when overlooked, but curable when properly diagnosed in time. The diagnosis of WD should never be excluded even in patients over the age of 50.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/late-onset-wilsons-disease-with-hepatic-and-neurological-manifestations/