The Turkish Journal of Pediatrics
2010 , Vol 52 , Num 2
Two Cases with Megalencephalic Leukoencephalopathy with Subcortical Cysts and MLC1 Mutations in the Turkish Population
Divisions of Child Neurology, 1Gaziantep Children’s Hospital, Gaziantep, 3Behçet Uz Research and Training Hospital,
and Departments of 4Radiology and 5Pediatrics, Dokuz Eylül University Faculty of Medicine, İzmir, Turkey and 2Division
of Child Neurology, Department of Pediatrics, VU University Medical Center, Amsterdam, The Netherlands
Megalencephalic leukoencephalopathy with subcortical cysts is a rare
leukodystrophy that is characterized by macrocephaly and a slowly progressive
clinical course. It is one of the most commonly reported leukoencephalopathies
in Turkey. Mutations in the MLC1 gene are the main cause of the disease.
We report two patients with megalencephalic leukoencephalopathy with
subcortical cysts with confirmed mutations in the MLC1 gene. The mutation
in the second patient was novel. We also review identified mutations in the
Turkish population.
Keywords :
megalencephalic leukoencephalopathy, subcortical cysts, MLC1 gene,
Turkish population.