Characteristics of infantile convulsions and choreoathetosis syndrome caused by PRRT2 mutation

• 作者: Deng Yaxian Xu Juanyu Yao Chunmei Wang Lei Dong Xiaohuan Zhao Chengsong
• 来源期刊: 儿科学研究（英文）
• 关键词: ICCA Paroxysmal kinesigenic dyskinesia PRRT2 Treatment
• 年，卷（期）: 2022,（1）
• 所属期刊栏目: Original Article
• 页码范围: 11-15
• 页数: 5页
• 语种: 中文
• DOI: 10.1002/ped4.12308

摘要

Importance::Infantile convulsions and choreoathetosis (ICCA) is a rare neurological disorder. Many affected patients are either misdiagnosed or prescribed multiple antiepileptic drugs.Objective::To explore therapeutic drug treatments and dosages for ICCA in children.Methods::Detailed clinical features (e.g., past medical history and family history), genetic features, and treatment outcomes were collected from the records of six patients with ICCA.Results::Mean age at paroxysmal kinesigenic dyskinesia (PKD) onset was 8 years 8 months (range, 3-12 years); the clinical presentation was characterized by daily short paroxysmal episodes of dystonia/dyskinesia. All patients had infantile convulsions at less than 1 year of age, and the mean onset age was 5.5 months (range, 4-7 months). Two patients had a family history of ICCA, PKD, or benign familial infantile epilepsy. Whole exome sequencing identified the c.649-650insC mutation in PRRT2 in six patients; three mutations were inherited and three were de novo. All patients were prescribed low-dose carbamazepine and showed dramatic improvement with the complete disappearance of dyskinetic episodes after 3 days. They attended follow-up for 5-17 months and were attack-free until the final follow-up. Interpretation::PRRT2 mutations are the primary cause of ICCA. Low-dose carbamazepine monotherapy is effective and well-tolerated in children.