A CASE OF MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS IN AN IRANIAN CONSANGUINEOUS FAMILY

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ASHRAFI M.R.; KARIMINEZHAD A.; ALIZADEH HOUMAN; BOZORGMEHR B.; AMOUEIAN S.; KARIMINEZHAD M.H.

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Journal: Iranian Journal of Pediatrics Year:2009 | Volume:19 | Issue:4 Page(s): 425-429

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Title

A CASE OF MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS IN AN IRANIAN CONSANGUINEOUS FAMILY

Author(s)

Keywords

MACROCEPHALYQ3

LEUKOENCEPHALOPATHYQ3

MEGALENCEPHALYQ3

MLC1 GENEQ3

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.Case Presentation: 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.

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APA: Copy

ASHRAFI, M.R., KARIMINEZHAD, A., ALIZADEH, HOUMAN, BOZORGMEHR, B., AMOUEIAN, S., & KARIMINEZHAD, M.H.. (2009). A CASE OF MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS IN AN IRANIAN CONSANGUINEOUS FAMILY. IRANIAN JOURNAL OF PEDIATRICS, 19(4), 425-429. SID. https://sid.ir/paper/76013/en

Vancouver: Copy

ASHRAFI M.R., KARIMINEZHAD A., ALIZADEH HOUMAN, BOZORGMEHR B., AMOUEIAN S., KARIMINEZHAD M.H.. A CASE OF MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS IN AN IRANIAN CONSANGUINEOUS FAMILY. IRANIAN JOURNAL OF PEDIATRICS[Internet]. 2009;19(4):425-429. Available from: https://sid.ir/paper/76013/en

IEEE: Copy

M.R. ASHRAFI, A. KARIMINEZHAD, HOUMAN ALIZADEH, B. BOZORGMEHR, S. AMOUEIAN, and M.H. KARIMINEZHAD, “A CASE OF MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS IN AN IRANIAN CONSANGUINEOUS FAMILY,” IRANIAN JOURNAL OF PEDIATRICS, vol. 19, no. 4, pp. 425–429, 2009, [Online]. Available: https://sid.ir/paper/76013/en

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