小儿阵发性运动障碍的一种新的神经影像学表型

IF 0.2 Q4 PEDIATRICS Journal of Pediatric Epilepsy Pub Date : 2023-05-06 DOI:10.1055/s-0043-1771518
Rahul Sinha, Bharat Hosur, Sonali Singh, Gautam Kamila, A. Meena
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摘要

摘要:阵发性动态性运动障碍(PKD)是一种罕见的疾病,其特征是反复发作的多动性运动,可单独或与良性婴儿癫痫发作相关,作为舞蹈病综合征婴儿惊厥的一部分。我们报告一例12岁女孩的多动性运动障碍,表现为舞蹈症、球性震颤、肌张力障碍,由突然运动引发,既往有良性婴儿惊厥病史。脑和脊柱磁共振增强成像显示双侧对称的小脑上细胞毒性水肿,保留了小脑叶肿胀的蚓部。全外显子组测序鉴定出PRRT2基因的纯合子移码重复NM_145239.3(PRRT2):c.649dupC(p.Arg217Profs*8)。本病例报告强调了PRRT2基因的移码复制和罕见的神经影像学发现,进一步扩大了儿童PKD的表型特征。
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A Novel Neuroimaging Phenotype in the Pediatric Paroxysmal Kinesigenic Dyskinesia
Abstract Paroxysmal kinesigenic dyskinesia (PKD) is a rare disorder characterized by recurrent attacks of hyperkinetic movements which can be isolated or associated with benign infantile seizures as part of the infantile convulsions with choreoathetosis syndrome. We present a case of hyperkinetic movement disorder in the form of choreoathetosis, ballismus, dystonia triggered by sudden movements with a past history of benign infantile convulsions in a 12-year-old girl. The contrast-enhanced brain and spine magnetic resonance imaging showed bilaterally symmetric superior cerebellar cytotoxic edema sparing the vermis with swollen cerebellar foliae. Whole-exome sequencing identified a homozygous frameshift duplication NM_145239.3(PRRT2):c.649dupC(p.Arg217Profs*8) in the PRRT2 gene. This case report highlights the frameshift duplication in the PRRT2 gene and rare neuroimaging findings which further expand the phenotypic characteristics of PKD in children.
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期刊介绍: The Journal of Pediatric Epilepsy is an English multidisciplinary peer-reviewed international journal publishing articles on all topics related to epilepsy and seizure disorders, epilepsy surgery, neurology, neurosurgery, and neuropsychology in childhood. These topics include the basic sciences related to the condition itself, the differential diagnosis, natural history, and epidemiology of seizures, and the investigation and practical management of epilepsy (including drug treatment, neurosurgery and non-medical and behavioral treatments). Use of model organisms and in vitro techniques relevant to epilepsy are also acceptable. Journal of Pediatric Epilepsy provides an in-depth update on new subjects and current comprehensive coverage of the latest techniques used in the diagnosis and treatment of childhood epilepsy.
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