薄胼胝体和“猞猁耳征”——遗传性痉挛性截瘫11型一家系报告  

Thin corpus callosum and“lynx ear sign”:A report of a family of hereditary spastic paraplegia type 11

作　　者：于宗泳 武紫阳 田霏霏 栗静[2] 袁薇[2] 李鑫[2] 魏海萍[2] 武国德[2] 刘珺[3] YU Zongyong;WU Ziyang;TIAN Feifei;LI Jing;YUAN Wei;LI Xin;WEI Haiping;WU Guode;LIU Jun(The Second Clinical Medical School,Lanzhou University,Department of Neurology,the Second Hospital of Lanzhou University,Department of Respiratory and Critical Care,Gansu Provincial People’s Hospital,Lanzhou 730030,China)

机构地区：[1]兰州大学第二临床医学院,兰州730030 [2]兰州大学第二医院神经内科 [3]甘肃省人民医院呼吸与危重症科

出　　处：《中国神经精神疾病杂志》2024年第10期632-635,共4页Chinese Journal of Nervous and Mental Diseases

基　　金：甘肃省自然科学基金(编号:22JR5RA994);兰州大学第二医院萃英科研创新项目(编号:CY2022-MS-A07)。

摘　　要：报道1例MRI影像表现为典型薄胼胝体(thin corpus callosum,TCC)和“猞猁耳征(ears-of-the-lynx sign)”的遗传性痉挛性截瘫11型(spastic paraplegia 11,SPG11)病例。患者为13岁男孩,主要表现走路不稳容易跌倒,症状逐渐加重伴双手书写不灵、学习能力下降1年;父母无血缘关系。患儿头颅MRI表现为胼胝体变薄,双侧脑室前角旁白质T2、Flair轴位对称性高信号,全外显子组测序检测到SPG11基因NM_025137:c.2073delT和c.257+5G>A两处杂合突变分别来自父母,先证者最终诊断为SPG11,并给予对症治疗。脑MRI影像表现TCC和“猞猁耳征”对诊断SPG11具有高度敏感性和特异性,对于有痉挛性截瘫表现的患者要考虑到SPG11的可能。To report a case with hereditary spastic paraplegia type 11(SPG11)in association with typical thin corpus callosum(TCC)and“Ears-of-the-lynx sign”on MRI imaging.The patient was a 13-year-old boy.The main symptoms are walking instability and falling easily.Over the period of one year,the symptoms gradually progressed when accompanied by poor handwriting and a decrease in learning ability.The parents are not related.Brain MRI shows a thin corpus callosum,and high symmetric signals in the anterior horn of the lateral ventricles on T2 and Flair sequence.WES detected two heterozygous mutations in the SPG11 gene,NM_025137:c.2073delT and c.257+5G>A,respectively from the parents.The proband was finally diagnosed with SPG11.Brain MRI found that TCC and“lynx ear sign”are highly sensitive and specific for the diagnosis of SPG11.The patients with spastic paraplegia should be considered the possibility of SPG11.

关 键 词：遗传性痉挛性截瘫11型 薄胼胝体 猞猁耳征 SPG11基因 复合杂合突变 

分 类 号：R741.02[医药卫生—神经病学与精神病学]