[Progressive cavitating leukoencephalopathy: four cases and literatures review]

C H Ren1, F Fang, H Cheng

  • 1Department of Neurology, Beijing Children's Hospital Affiliated to Capital Medical University, Beijing 100045, China.

Summary

Progressive cavitating leukoencephalopathy (PCL) is linked to novel mutations in NDUFV1 and NDUFS1 genes. Early genetic screening for these genes is crucial for diagnosing PCL in children with characteristic clinical and imaging findings.