megalencephalic leukoencephalopathy with subcortical cysts in 4 iranian families and review of literature

megalencephalic leukoencephalopathy with subcortical cysts (mlc) is an autosomal recessive disorder characterized by macrocephaly and a slowly progressive clinical course marked by ataxia, spasticity and mental decline. mlc is caused by mutations in the gene mlc1 which encodes a novel protein, mlc1. here we report 4 cases presenting with macrocephaly, spasticity, ataxia and abnormal cerebral white matter and subcortical cysts in brain mri diagnosed with mlc. mlc was molecularly confirmed in all 4 patients. this is the first report of mlc in 4 iranian families. conclusion: mlc1 should be considered in children with macrocephaly and a slowly progressive psychomotor decline. this disease can be genetically confirmed and prenatal diagnosis is suggested for future pregnancies.