Literature DB >> 22104638

Oxcarbazepine-responsive paroxysmal kinesigenic dyskinesia in Wilson disease.

Federico Micheli1, Lorena Tschopp, Maria Graciela Cersosimo.   

Abstract

A 22-year-old man presented with a 2-year history of tremor of the upper limbs associated to behavioral disorders. A magnetic resonance imaging of the brain showed hyperintensity in the right frontoparietal region, basal ganglia, particularly in the caudate nucleus, midbrain, and pons in T2 sequences, fluid-attenuated inversion recovery, and diffusion. Serum ceruloplasmin levels were 4 mg/dL (range, 20-45 mg/dL), and 24-hour urine cooper excretion was increased up to 223 µg (10-40 µg/24 hours). Slit lamp examination demonstrated the presence of a Kayser-Fleischer ring and penicillamine treatment started. Four months later, he developed episodes of paroxysmal dystonic posturing of his left arm, which increased in frequency reaching 2 or 3 attacks per hour. They were triggered by voluntary movements and forced him to adopt an abnormal flexion of the left forearm over the left bicep and were preceded by a tightening sensation of the left forearm muscles. Episodes completely remitted with oxcarbazepine.

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Year:  2011        PMID: 22104638     DOI: 10.1097/WNF.0b013e3182348964

Source DB:  PubMed          Journal:  Clin Neuropharmacol        ISSN: 0362-5664            Impact factor:   1.592


  5 in total

1.  Difficulties in diagnosis and treatment of Wilson disease-a case series of five patients.

Authors:  Anna Członkowska; Karolina Dzieżyc-Jaworska; Bożena Kłysz; Rędzia-Ogrodnik Barbara; Tomasz Litwin
Journal:  Ann Transl Med       Date:  2019-04

2.  A case of Wilson's disease presenting with paroxysmal dystonia.

Authors:  Hyun Jae Kim; Jung Han Yoon
Journal:  Neurol Sci       Date:  2017-05-30       Impact factor: 3.307

Review 3.  Genetic updates on paroxysmal dyskinesias.

Authors:  James Y Liao; Philippe A Salles; Umar A Shuaib; Hubert H Fernandez
Journal:  J Neural Transm (Vienna)       Date:  2021-04-30       Impact factor: 3.575

Review 4.  Clinical and Genetic Overview of Paroxysmal Movement Disorders and Episodic Ataxias.

Authors:  Giacomo Garone; Alessandro Capuano; Lorena Travaglini; Federica Graziola; Fabrizia Stregapede; Ginevra Zanni; Federico Vigevano; Enrico Bertini; Francesco Nicita
Journal:  Int J Mol Sci       Date:  2020-05-20       Impact factor: 5.923

5.  Advance in the pathogenesis and treatment of Wilson disease.

Authors:  Qin-Yun Dong; Zhi-Ying Wu
Journal:  Transl Neurodegener       Date:  2012-11-27       Impact factor: 8.014

  5 in total

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