Hakami Wejdan S, Hundallah Khaled J, Tabarki Brahim M
Division of Pediatric Neurology, Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Kingdom of Saudi Arabia.
Neurosciences (Riyadh). 2019 Jul;24(3):155-163. doi: 10.17712/nsj.2019.3.20190045.
Cerebral palsy is a syndrome that encompasses a large group of childhood movement and posture disorders that result from a lesion occurring in the developing brain. The clinical presentation of many metabolic and genetic conditions, particularly in highly consanguineous populations, can mimic cerebral palsy particularly at early age. The aim of this review article is to identify the clinical features that should alert the physician to the possibility of disorders that resemble cerebral palsy, the clinical and neuroimaging red flags, and highlight some metabolic and genetic conditions which may present with spasticity, ataxia and dyskinesia. In the case of metabolic or genetic disorder, making a precise diagnosis is particularly important for the possibility of treatment, accurate prognosis and genetic counseling.
脑瘫是一种综合征,它包含一大类儿童期运动和姿势障碍,这些障碍是由发育中的大脑发生病变引起的。许多代谢和遗传疾病的临床表现,尤其是在近亲结婚的人群中,可能会模仿脑瘫,特别是在早期。这篇综述文章的目的是确定那些应提醒医生注意类似脑瘫疾病可能性的临床特征、临床和神经影像学警示信号,并强调一些可能表现为痉挛、共济失调和运动障碍的代谢和遗传疾病。对于代谢或遗传疾病,做出准确诊断对于治疗可能性、准确预后和遗传咨询尤为重要。