Six Cases of Megalencephalic Leukoencephalopathy with Subcortical Cysts in a family

Abstract

Abstract 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.