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:

伴皮质下囊肿的巨脑性白质脑病（MLC）是一种罕见的遗传性神经系统疾病，由常染色体隐性或显性方式遗传。MLC主要临床表现为婴儿期出现的大头畸形、运动发育迟缓、智能减退、癫痫及渐进性神经功能障碍等。目前，MLC的治疗缺乏特效药物，给家庭和社会带来巨大的负担。因此，开展对MLC携带者进行筛查，降低患儿出生率是防控关键。该专家共识的目的是指导对MLC携带者进行筛查，提供降低生育风险的遗传咨询和干预措施，为临床工作提供帮助，促进对MLC的规范化防控。

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.