Clinical analysis of middle-aged cases of macroencephalic leukoencephalopathy with subcortical cysts / 中华神经科杂志

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.