Iranian Journal of Pediatrics
Tehran University of Medical Sciences Press
Vol. 19, No. 4, 2009, pp. 425-429
Bioline Code: pe09054
Full paper language: English
Document type: Case Report
Document available free of charge
Iranian Journal of Pediatrics, Vol. 19, No. 4, 2009, pp. 425-429
© © 2009 by Center of Excellence for Pediatrics, Children’s Medical Center, Tehran University of Medical Sciences,All rights reserved.
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
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.
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.
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.
Macrocephaly; Leukoencephalopathy; Megalencephaly; MLC1 gene
Alternative site location: http://diglib.tums.ac.ir/pub/