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A Case of Megalencephalic Leukoencephalopathy with Subcortical Cysts in an Iranian Consanguineous Family Ashrafi, Mahmoud Reza; Kariminejad, Ariana; Alizadeh, Houman; Bozorgmehr, Bita; Amoeian, Sepideh & Kariminejad, Mohammad-Hasan Abstract Background: Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is an autosomal recessive disorder characterized by macrocephaly, and 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. Conclusion: A 4-year-old girl with macrocephaly, spasticity, ataxia and abnormal cerebral white matter and subcortical cysts in brain MRI diagnosed with MLC. This is the first report of MLC in an Iranian family. Conclusion: MLC1 should be considered in children with macrocephaly and slowly progressive psychomotor decline. This disease can be prenatally diagnosed and genetic counseling offered for future pregnancies. Keywords Macrocephaly; Leukoencephalopathy; Megalencephaly; MLC1 gene

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