Title of article
A Case of Megalencephalic Leukoencephalopathy with Subcortical Cysts in an Iranian Consanguineous Family
Author/Authors
Ashrafi, Mahmoud Reza tehran university of medical sciences tums - Children s Medical Center, Pediatrics Center of Excellence - Department of Pediatrics, تهران, ايران , Kariminejad, Ariana Kariminejad Najmabadi Pathology and Genetics Center, ايران , Alizadeh, Houman tehran university of medical sciences tums - Children s Medical Center, Pediatrics Center of Excellence - Department of Pediatrics, تهران, ايران , Bozorgmehr, Bita Kariminejad Najmabadi Pathology and Genetics Center, ايران , Amoeian, Sepideh tehran university of medical sciences tums - Children s Medical Center, Pediatrics Center of Excellence - Department of Pediatrics, تهران, ايران , Kariminejad, Mohammad-Hasan Kariminejad Najmabadi Pathology and Genetics Center, ايران
From page
425
To page
429
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
Journal title
Iranian Journal of Pediatrics
Journal title
Iranian Journal of Pediatrics
Record number
2710884
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