Background: Wilson's disease (WD) is a rare autosomal recessive disease that causes impaired copper circulation and excretion. The initial manifestations of WD vary clinically, which makes early diagnosis very difficult. Sleep disorders have been described as common symptoms of WD, but the initial manifestations are in rare cases.

Case Report: This study aims to present a patient with acute insomnia as the initial manifestation of WD. Cranial magnetic resonance imaging showed extensive lesions in the bilateral putamen and caudate nucleus, pressure area of corpus callosum, midbrain, and pons. Interestingly, rare but characteristic signs of WD, such as "face of the giant panda," were shown in this case. WD diagnosis was further established by decreased ceruloplasmin level and ATP7B (adenosine-triphosphatase copper transporting beta polypeptide) gene mutations.

Conclusions: We describe acute insomnia as the initial manifestation of WD in a 21-year-old male patient. Timely diagnosis allows for early copper-eliminating pharmacotherapy, which is of high prognostic importance, as the patient may be more responsive to treatment at this point.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11332700PMC
http://dx.doi.org/10.1097/MD.0000000000039380DOI Listing

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