疑似脑性瘫痪的遗传代谢病

Metabolic and genetic disorders mimicking cerebral palsy

脑性瘫痪(脑瘫)是发育中的胎儿或婴幼儿脑部非进行性损伤所致的一组持续存在中枢性运动和姿势发育障碍、活动受限的综合征,其临床特征主要包括痉挛型、不随意运动型、共济失调型和混合型。许多先天遗传代谢病在早期可能会表现为脑瘫症状,临床工作中易被误诊而延误治疗。文章目的是提高儿科临床医生对疑似脑瘫的先天遗传代谢病的认识,准确诊断遗传代谢病,尽早治疗,改善预后,预防残疾发生,并为家庭优生优育提供遗传咨询和产前诊断依据。

Cerebral palsy(CP)describes a group of permanent disorders of the development of movement and posture which are attributed to non-progressive disturbances that occurred in the developing fetal or infant brain,resulting in activity limitation.According to the most predominant pattern of motor disturbance,the CP is grouped as spastic,dyskinetic ataxic or mixed.The clinical presentation of many metabolic and genetic conditions can mimic CP.Misdiagnosis is likely to occur in clinical work,and the treatment may be delayed.The aim of this review is to help pediatricians recognize the congenital genetic and metabolic disorders that resemble CP.The accurate diagnosis of genetic and metabolic disorders is the basis for earlier treatment and better prognosis,which also prevents disability and provides evidences for genetic counseling and prenatal diagnosis.