A Case of Megalencephalic Leukoencephalopathy with Subcortical Cysts in an Iranian Consanguineous Family

被引：0

作者：

Ashrafi, Mahmoud Reza ^{[2
]}

Kariminejad, Ariana ^{[1
]}

Alizadeh, Houman ^{[2
]}

Bozorgmehr, Bita ^{[1
]}

Amoeian, Sepideh ^{[2
]}

Kariminejad, Mohammad Hasan ^{[1
]}

机构：

[1] Kariminejad Najmabadi Pathol & Genet Ctr, Tehran, Iran

[2] Univ Tehran Med Sci, Pediat Ctr Excellence, Childrens Med Ctr, Dept Pediat, Tehran, Iran

来源：

IRANIAN JOURNAL OF PEDIATRICS | 2009年 / 19卷 / 04期

关键词：

Macrocephaly; Leukoencephalopathy; Megalencephaly; MLC1; gene; MAGNETIC-RESONANCE SPECTROSCOPY; MILD CLINICAL-COURSE; LEUKODYSTROPHY; DISEASE; MUTATIONS; DIAGNOSIS; PROTEIN;

D O I：

暂无

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

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.

引用

页码：425 / 429

页数：5

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