结节性硬化症伴发神经精神障碍1例并家系分析  

A case of tuberous sclerosis complex with neuropsychiatric disorder and family analysis

作　　者：黄凡凡 余明[1] 卢文婷[1] 赵晓川[1] 王学义[1] HUANG Fanfan;YU Ming;LU Wenting;ZHAO Xiaochuan;WANG Xueyi(The First Hospital of Hebei Medical University,Shijiazhuang 050031,China.)

机构地区：[1]河北医科大学第一医院精神卫生科,河北医科大学精神卫生中心,石家庄050031

出　　处：《中国神经精神疾病杂志》2022年第7期439-443,共5页Chinese Journal of Nervous and Mental Diseases

基　　金：河北省省级科技计划资助(编号:21377711D);河北省省级科技计划资助(编号:199776245D)。

摘　　要：报告1例TSC2基因杂合缺失变异致结节性硬化症(tuberous sclerosis complex,TSC)患者及家系的临床资料。先证者为9岁男性,表现为反复肢体抽搐,情绪不稳定,注意力不集中,活动多,以神经精神障碍为突出表现。体格检查可见鲨鱼皮样斑等特征性皮肤损害。先证者的父亲和弟弟主要表现为反复肢体抽搐及皮肤损害。先证者、其父亲及其弟弟全外显子组测序和qPCR验证结果提示在染色体16p13.3区域检出杂合缺失变异,该变异类型既往未见报道。本例考虑结节性硬化症所致精神障碍,给予药物联合康复训练治疗后患者病情好转出院。通过本例TSC案例及相关文献复习,本文阐述TSC相关神经精神障碍的识别及诊治要点,为临床诊治提供参考。To report the clinical data of a patient and his family with tuberous sclerosis complex(TSC)caused by heterozygous deletion of TSC2 gene.The proband,a 9-year-old male,presented with repeated limb convulsions,emotional instability,inattention and excessive activity,with neuropsychiatric disorders as the prominent manifestations.Physical examination showed characteristic skin lesions such as shark-skin patches.The proband′s father and younger brother mainly presented with repeated limb convulsions and skin lesions.The results of whole exome sequencing and qPCR showed a heterozygous deletion variant in chromosome 16p13.3 region,which had not been reported previously.Considering the mental disorders caused by tuberous sclerosis,the patient′s condition improved after treatment with drugs combined with rehabilitation training.Through this case of TSC and review of relevant literature,this case report emphasized the key points of recognition,diagnosis and treatment of TSC-associated neuropsychiatric disorders,so as to provide reference for clinical diagnosis and treatment.

关 键 词：结节性硬化症 神经精神障碍 先证者 家族性 临床特点 TSC2 基因 基因突变 影像学特征 

分 类 号：R742[医药卫生—神经病学与精神病学] R749.2[医药卫生—临床医学]