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.
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