Thin corpus callosum and"lynx ear sign":A report of a family of hereditary spastic paraplegia type 11
10.3969/j.issn.1002-0152.2024.10.012
- VernacularTitle:薄胼胝体和"猞猁耳征"——遗传性痉挛性截瘫11型一家系报告
- Author:
Zongyong YU
1
;
Ziyang WU
;
Feifei TIAN
;
Jing LI
;
Wei YUAN
;
Xin LI
;
Haiping WEI
;
Guode WU
;
Jun LIU
Author Information
1. 兰州大学第二临床医学院(兰州 730030)
- Keywords:
Hereditary spastic paraplegia type 11(SPG11);
Thin corpus callosum(TCC);
Ears-of-the-lynx sign;
SPG11;
Complex heterozygous mutation
- From:
Chinese Journal of Nervous and Mental Diseases
2024;50(10):632-635
- CountryChina
- Language:Chinese
-
Abstract:
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.
