国际神经病学神经外科学杂志2024，Vol.51Issue(2)：7-12,6.DOI:10.16636/j.cnki.jinn.1673-2642.2024.02.002
中国伴皮质下囊肿的巨脑性白质脑病携带者筛查专家共识
Expert consensus on carrier screening for megalencephalic leukoencephalopathy with subcortical cysts in China
摘要
Abstract
Macrocephalic leukoencephalopathy with subcortical cysts(MLC)is a rare hereditary neurological disorder inherited in an autosomal recessive or autosomal dominant manner.The main clinical manifestations of MLC include macrocephaly in infancy,motor developmental delay,cognitive deterioration,epilepsy,and progressive neurological dysfunction.At present,there is still a lack of specific drugs for the treatment of MLC,which brings a huge burden to families and society.Therefore,the screening for MLC carriers to reduce the birth rate of affected children is the key to the prevention and control of MLC.This expert consensus aims to guide MLC carrier screening and provide genetic counseling and interventions to reduce the risk of childbearing,so as to support clinical work and promote the standardized prevention and control of MLC.关键词
伴皮质下囊肿的巨脑性白质脑病/常染色体隐性遗传/常染色体显性遗传/携带者筛查/专家共识Key words
megalencephalic leukoencephalopathy with subcortical cysts/autosomal recessive inheritance/autosomal dominant inheritance/carrier screening/expert consensus分类
医药卫生引用本文复制引用
《中国伴皮质下囊肿的巨脑性白质脑病携带者筛查专家共识》制订组,杨飞,肖波..中国伴皮质下囊肿的巨脑性白质脑病携带者筛查专家共识[J].国际神经病学神经外科学杂志,2024,51(2):7-12,6.基金项目
国家重点研发计划(2021YFC1005300). （2021YFC1005300）
