ArticleNMC case report journal2025
Intrathecal Baclofen Therapy Improves Refractory Status Dystonicus in Neuro-hepatic Wilson's Disease: A Case Report.
Article in NMC case report journal, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Wilson's disease is an autosomal recessive disorder of copper metabolism. A current unresolved issue is the worsening of neurological symptoms during the initial treatment phase, particularly with chelation therapy. This phenomenon, termed "early neurological worsening," is attributed to the rapid mobilization and redistribution of copper during treatment initiation. We report the case of a 10-year-old boy, with neuro-hepatic Wilson's disease who developed treatment-refractory generalized dystonia, which improved with intrathecal baclofen therapy. The patient experienced walking discomfort 5 months before referral to our hospital, with rapid progression to dysphagia and a 3 kg weight loss. Initially, he presented with dystonia, including foot inversion. Wilson's disease was diagnosed based on physiological, clinical, and imaging findings, with confirmation of a homozygous mutation in the
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