Six Cases of Megalencephalic Leukoencephalopathy with Subcortical Cysts in a family

Shamrendra Narayan, Dipti Agarwal, Vandna Verma, Nirmal C Prajapati
2014 Journal of Pediatric Sciences  
We present a case series of 6 children of Megalencephalic leukoencephalopathy with subcortical cysts. It is a very rare leukodystrophy that is characterized by macrocephaly, a slowly progressive clinical course and fatal outcome. Clinical presentation and MRI scans are the mainstay of diagnosis. 6 of 7 children from the same parents were affected suggesting variation from autosomal recessive pattern.
doi:10.17334/jps.02063 fatcat:gtfnqqnbunhifhufxpavfgur44