BSCL2突变致先天性全身性脂肪营养不良伴严重中枢神经系统受累1例

基础医学与临床 ›› 2021, Vol. 41 ›› Issue (9): 1333-1337.

BSCL2突变致先天性全身性脂肪营养不良伴严重中枢神经系统受累1例

丁娟, 马明圣, 邱正庆^*

中国医学科学院北京协和医学院北京协和医院儿科, 北京 100730

收稿日期:2020-12-18 修回日期:2021-07-13 出版日期:2021-09-05 发布日期:2021-09-02
通讯作者: *zhengqingqiu@aliyun.com
基金资助:
科技部国家重点研发计划(2016YFC0901500,2016YFC0905102)

A congenital generalized lipodystrophy patient complicated with critical central neurological involvement due to BSCL2 mutations

DING Juan,MA Ming-sheng,QIU Zheng-qing^*

Department of Pediatrics, Peking Union Medical College Hospital, CAMS & PUMC, Beijing 100730, China

Received:2020-12-18 Revised:2021-07-13 Online:2021-09-05 Published:2021-09-02
Contact: *zhengqingqiu@aliyun.com

摘要/Abstract

摘要： 目的分析1例BSCL2突变所致先天性全身性脂肪营养不良(CGL)2型合并中枢神经系统受累患者的临床特点及基因型,提高对该病神经系统受累的认识。方法总结患儿的病史、临床表现、实验室检查结果并进行分析,抽取患者及父母外周静脉血,提取基因组DNA进行第二代基因测序,并对患者治疗及随访。结果患儿临床表现为全身皮下脂肪消失、肝大、黑棘皮征、发育迟滞、癫痫发作、共济失调、认知功能倒退。血转氨酶、三酰甘油(TAG)、空腹胰岛素水平升高。脑电图(EEG)监测到多种发作。第二代基因测序显示患儿的BSCL2存在c.782dupG碱基重复纯合突变,为致病突变,父母均携带c.782dupG碱基重复杂合变异。饮食控制及口服二甲双胍,血TAG及胰岛素水平无改善。口服拉莫三嗪控制癫痫效果不佳,神经系统症状加重。结论 BSCL2突变导致的CGL2,除典型脂肪营养不良表现,还可有严重神经系统受累,预后不良。

关键词: 先天性全身性脂肪营养不良, BSCL2, seipin, 癫痫

Abstract: Objective To retrospectively analyze the clinical data of a patient with congenital generalized lipodystrophy (CGL) type 2 caused by BSCL2 mutation. Methods The clinical data of a patient with CGL was analyzed, including clinical features, laboratory data. The next generation sequencing was adopted to inspect gene mutations associated with CGL. Sanger sequencing was used to verify the pathogenic mutations. Treatment and follow-up were given to the patient. Results Patient manifested as lacking of subcutaneous fat,hepatomegaly,acanthosis nigricans,developmental retardation,epilepsy,ataxia and neurodegeneration. The levels of serum liver enzyme, triacylglyceride(TAG) and fasting insulin increased. Multiple types of seizures were detected by electroencephalogram (EEG). Gene sequencing revealed homozygous mutations of BSCL2,c.782dupG inherited from his parents respectively. The patient failed to respond to the treatment with diet control, metformin and lamotrigine, and neurologic function deteriorated gradually. Conclusions CGL2 caused by BSCL2 base repeat mutation may have serious and lethal nervous degeneration in addition to typical lipodystrophy.

Key words: congenital generalized lipodystrophy, caused by BSCL2, sepin, epilepsy

中图分类号:

R748

丁娟, 马明圣, 邱正庆. BSCL2突变致先天性全身性脂肪营养不良伴严重中枢神经系统受累1例[J]. 基础医学与临床, 2021, 41(9): 1333-1337.

DING Juan,MA Ming-sheng,QIU Zheng-qing. A congenital generalized lipodystrophy patient complicated with critical central neurological involvement due to BSCL2 mutations[J]. Basic & Clinical Medicine, 2021, 41(9): 1333-1337.

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