Clinical analysis of middle-aged cases of macroencephalic leukoencephalopathy with subcortical cysts
10.3760/cma.j.cn113694-20230228-00134
- VernacularTitle:伴皮质下囊肿的巨脑性白质脑病中年病例临床分析
- Author:
Fengyu WANG
1
;
Jinlong ZOU
;
Junkui SHANG
;
Shuai CHEN
;
Mingrong XIA
;
Jiewen ZHANG
Author Information
1. 河南省人民医院（郑州大学人民医院）神经内科，郑州 450003
- Keywords:
Megalencephalic leukoencephalopathy with subcortical cyst;
Autosomal recessive genetic disease;
Genetic testing;
Insertion mutation;
MLC1gene
- From:
Chinese Journal of Neurology
2023;56(11):1294-1298
- CountryChina
- Language:Chinese
-
Abstract:
Megalencephalic leukoencephalopathy with subcortical cysts (MLC, OMIN: 604004) caused by mutations in the MLC1 gene, is an rare autosomal recessive disorder. More patients are with infancy and young children onset, whereas adult cases are rare. Only 2 patients from 1 family have been reported in domestic adult cases. Now a 58-year-old female MLC patient is reported. The clinical manifestations of the patient included large head circumference, slow responses, walking difficulties, seizures and paroxysmal loss of consciousness. The result of whole exome sequencing revealed a homozygous insertion mutation c.920_943dup in the MLC1 gene. The mutation in this patient has not been reported in the Human Gene Mutation Database.
