Journal of Nobel Medical College Teaching Hospital
Vol. 6 No. 2
A case report of Megalencephalic leukoencephalopathy with subcortical cysts, a rare inherited autosomal recessive leukodystrophy, in a Nepalese child
Manoj Bhattarai
Department of Radiodiagnosis and Imaging,
B.P. Koirala Institute of Health Sciences, Dharan
Ashish Mohan Bhattarai
Department of Medicine,
Nepal Police Hospital, Kathmandu
Tags : Macrocephaly, Megalencephalic leukoencephalopathy with subcortical cysts, Nepalese
Abstract
Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare inherited autosomal recessive leukodystrophy due to mutations in MLC1 or HEPACAM gene and have typical and characteristic neuroimaging findings. This article reports a case of 13 months old Nepalese male child with diagnosis of MLC.