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Título

Status dystonicus in Wilson disease

RESUMO

Case report: We describe a young woman, born from consanguineous parents, who presented at the age of 23 years with a 9-month past of anxiety and depression and a 2-month history of left upper limb dystonia. She progressed rapidly and severe generalized dystonia. She was admitted to the emergency room with status dystonicus (video). Laboratory investigation showed elevated creatine kinase, hepatic dysfunction, and low serum level of ceruloplasmin. Brain MRI demonstrated a bilateral T2-W hyperintensity in basal ganglia, pons, and midbrain (figure). Whole-exome sequencing revealed a homozygous pathogenic variant in the ATP7B gene, c.547C>T: p.(Arg183Trp). Initially, management of dystonic status was performed with orotracheal intubation, high doses of intravenous benzodiazepine associated with baclofen, amantadine, and gabapentin via enteral tube. Regarding a poor response to the therapy instituted so far, it was decided to implement intermittent intrathecal baclofen, but the treatment had to be interrupted due to infection of the central nervous system. Therefore, we chose to perform unilateral campotomy as an adjuvant treatment of status dystonicus. Discussion: Wilson disease (OMIM #277900) is an autosomal recessive inherited disorder of copper metabolism, caused by a mutation in the copper-transporting gene ATP7B. The disease can manifest as chronic liver disease, a progressive neurologic illness, or a psychiatric disorder. Movement disorder is one of the main symptoms of neurologic manifestation and dystonia is a common feature of WD. Dystonia can be focal, multifocal, segmental, or generalized. Status dystonicus is rare and is commonly associated d-penicilamine introduction, but Teive et al suggest that this presentation may be part of the natural history of this disorder. Final comments: We report a case of Wilson disease with a rare presentation of status dystonicus without any treatment introduction.