摘要
本文报告1例以精神及运动功能倒退为主要临床特征的婴儿神经轴索营养不良(infantile neuroaxonal dystrophy,INAD)。患儿为2岁2月女孩,家长在其1岁2月时发现女孩与人眼神交流少,并逐渐产生语言及运动功能倒退。体格检查发现患儿四肢肌力Ⅲ级,双侧膝腱反射亢进,病理征未引出。头颅磁共振显示小脑萎缩,脑电图呈现出大量快节律脑电波,全外显子基因检测到PLA2G6基因发生c668C>T纯合变异。由于INAD目前尚缺乏有效治疗措施,本例患儿予甲钴胺片、维生素B1口服以及对症康复治疗,疗效欠佳。该病例有助于提高临床医生对INAD的认识,对于精神及运动功能发育倒退的儿童,应尽早完成遗传检测并提供准确的遗传咨询。
A case of infantile neuroaxonal dystrophy(infantile neuroaxonal dystrophy,INAD)characterized by retrogression of mental and motor function is reported.The child was a 2-year-and-2-month-old girl,and her parents found that she had less eye contact with people at the age of 1-year-and-2-month-old,and gradually regressed in language and motor function.Physical examination showed that the muscle strength of the extremities was gradeⅢ,bilateral knee tendon reflexes were hyperreflex,and the pathological signs were not elicited.Brain MRI showed cerebellar atrophy,EEG showed a large number of fast rhythm brain waves,and the whole exon gene detected a homozygous variation of c668C>T in PLA2G6 gene.Due to the lack of effective treatment for INAD,this patient was given oral mecobalamin tablets,vitamin B1 and symptomatic rehabilitation treatment,and the response was not satisfactory.This case is helpful to improve clinicians’understanding of INAD.For children with retrogression in mental and motor function,genetic testing should be completed as soon as possible and accurate genetic counseling should be provided.
作者
朱柳杰
胡恕香
黄种钦
廖心歆
ZHU Liujie;HU Shuxiang;HUANG Zhongqin;LIAO Xinxin(Women and Children's Hospital,School of Medicine,Xiamen university Xiamen Maternal and Child Health Care Hospital.NO.10,Zhenhai District,Xiamen,Fujian 361003,China)
出处
《中国神经精神疾病杂志》
CAS
CSCD
北大核心
2022年第12期741-745,共5页
Chinese Journal of Nervous and Mental Diseases
