[P3-79] Clinical Features and Oxcarbazepine Taken at A Draught at Morning in The Treatment of Paroxysmal Kinesigenic Dyskinesia
[Introduction] The objective was to summarize the clinical features of children PKD patients, and observe the effect of low doses of OXC taken at a draught at morning in PKD.
[Methodology] 20 patients diagnosed with PKD between January 2011 and December 2015 were enrolled, the medical records of them were scrutinized. Peripheral venous blood was taken from all the patients, Sanger sequencing was used for PRRT2 gene mutation sequencing. Clinical features were compared between PKD patients with and without PRRT2 gene mutations. All the patients were treated with OXC taken at a draught at morning, the starting doses was 5mg/kg.d and increased at 5mg/kg.d per week until the attack is stopped.
[Results] The dyskinesia of all the patients was triggered by sudden movement. Dyskinetic movement usually involved the limbs and was shown bilateral, more than half of them had both dystonia and choreoathetosis. We identify PRRT2 gene mutations in 5 patients, 4 of them were from family cases while the other 1 were sporadic. All of them took OXC with low doses of OXC(5-20 mg/kg•d) at a draught at morning, the attack of dyskinesia was stopped in 19 of them. Few rash occurred only in 1 patient, other adverse effect was not observed.
[Conclusions] Children PKD patients have various phenotypes, PRRT2 gene mutation is common in family cases, the genetic mechanism in sporadic cases need further study, low doses of OXC taken at a draught at morning could be a alternative treatment choices for children PKD patients.
[Methodology] 20 patients diagnosed with PKD between January 2011 and December 2015 were enrolled, the medical records of them were scrutinized. Peripheral venous blood was taken from all the patients, Sanger sequencing was used for PRRT2 gene mutation sequencing. Clinical features were compared between PKD patients with and without PRRT2 gene mutations. All the patients were treated with OXC taken at a draught at morning, the starting doses was 5mg/kg.d and increased at 5mg/kg.d per week until the attack is stopped.
[Results] The dyskinesia of all the patients was triggered by sudden movement. Dyskinetic movement usually involved the limbs and was shown bilateral, more than half of them had both dystonia and choreoathetosis. We identify PRRT2 gene mutations in 5 patients, 4 of them were from family cases while the other 1 were sporadic. All of them took OXC with low doses of OXC(5-20 mg/kg•d) at a draught at morning, the attack of dyskinesia was stopped in 19 of them. Few rash occurred only in 1 patient, other adverse effect was not observed.
[Conclusions] Children PKD patients have various phenotypes, PRRT2 gene mutation is common in family cases, the genetic mechanism in sporadic cases need further study, low doses of OXC taken at a draught at morning could be a alternative treatment choices for children PKD patients.