Choi Han-Byeol, Na Yoonju, Lee Jiwon, Lee Jeehun, Jang Ja-Hyun, Kim Jong-Won, Kwon Jeong-Yi
Department of Physical and Rehabilitation Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea.
Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea.
Front Pediatr. 2023 Oct 13;11:1204360. doi: 10.3389/fped.2023.1204360. eCollection 2023.
Herein, we describe the case of a 43-month-old girl who presented with clinical manifestations of dyskinetic cerebral palsy (CP), classified as the Gross Motor Function Classification System (GMFCS) V. The patient had no family history of neurological or perinatal disorders. Despite early rehabilitation, serial assessments using the Gross Motor Function Measure (GMFM) showed no significant improvements in gross motor function. Brain magnetic resonance imaging showed nonspecific findings that could not account for developmental delay or dystonia. Whole-genome sequencing identified a heterozygous NM_002074.5(GNB1):c.239T>C (p.Ile80Thr) mutation in guanine nucleotide-binding protein beta 1 () gene. Considering this case and previous studies, genetic testing for the etiology of dyskinetic CP is recommended for children without relevant or with nonspecific brain lesions.
在此，我们描述了一名43个月大女童的病例，其表现为运动障碍型脑性瘫痪（CP）的临床表现，根据粗大运动功能分类系统（GMFCS）被归类为V级。该患者无神经或围产期疾病家族史。尽管进行了早期康复治疗，但使用粗大运动功能测量（GMFM）进行的系列评估显示粗大运动功能没有显著改善。脑磁共振成像显示非特异性结果，无法解释发育迟缓或肌张力障碍。全基因组测序在鸟嘌呤核苷酸结合蛋白β1（）基因中鉴定出一个杂合的NM_002074.5(GNB1):c.239T>C（p.Ile80Thr）突变。考虑到该病例及先前的研究，对于无相关脑损伤或脑损伤非特异性的儿童，建议进行基因检测以明确运动障碍型CP的病因。
