摘要
目的 探讨以儿童慢性小腑共济失调为主要临床表现的疾病诊断.方法 回顾性分析15例以慢性小脑共济失调为主要临床表现患儿的临床资料、实验室检查、影像学检查结果.结果15例患儿中,共济失调毛细血管扩张症3例,表现为进行性慢性小脑共济失调,神经影像学提示不同程度小脑萎缩.另12例表现为非进行性,其中Joubert综合征2例,表现为运动发育落后、下肢共济失调及言语表达障碍,神经影像学提示小脑蚓部发育不良;脑性瘫痪（共济失调型）10例,均表现为运动发育落后,9例伴智力、言语障碍,7例头颅计算机X射线断层扫描或MRI成像提示存在小脑半球萎缩,3例头颅MRI末发现小脑结构异常,其中2例行头颅正电子发射计算机断层扫描提示小脑神经元功能降低.分析10例共济失调型脑性瘫痪患儿康复治疗前后粗大运动功能测试量表（GMFM）总分及Gesell发育量表5个能区发育商（D0）,提示康复治疗前GMFM总分为44.15±20.41,康复治疗后GMFM总分为56.42±15.65,二者比较差异有统计学意义（t=-3.121,P＜0.05）;而Gescll发育量表社会适应、大运动、精细运动、语言及个人社交5个能区DQ,治疗前分别为37.47±14.47、35.23±17.23、37.06±11.51、40.69±12.10、40.41±15.79,治疗后分别为39.44±16.29、28.27±14.65、35.96±10.76、40.26±14.20、38.61±11.95,其中治疗后大运动能区DQ较治疗前下降,差异有统计学意义0=2.75,P＜0.05）,余功能区治疗前后比较差异均无统计学意义（P均＞0.05）.结论 婴儿期起病表现为肌张力低下、运动发育迟缓的慢性小脑共济失调患儿,多有先天性小脑结构或功能异常;以进行性小脑共济失调为主要表现者,注意排除遗传或代谢病因,并应行全面的检查及评估以提高诊断准确性.
Objective To investigate the diagnosis of the diseases that presented with childhood chronic cerebellar ataxia.Method The clinical data of 15 children with chronic cerebellar ataxia were studied,including the clinical features,laboratory results and neuroimaging aspect.Results Of the 15 children with chronic cerebellar ataxia,3 cases had chronic progressive cerebellar ataxia diagnosed as ataxia telangiectasia,and neuroimaging finding that indicated mild to marked cerebellar atrophy.The others 12 cases had non-progressive cerebellar ataxia,2 cases of them had Joubert syndrome,characterized by delayed motor function and speech,lower limbs ataxia and cerebellar vermis hypoplasia; 10 cases had ataxic cerebral palsy with delayed motor skills,9 of them had mental retardation and verbal problem.Of the 10 children with ataxic cerebral palsy,7 cases had cerebellar hemispheric atrophy by computer tomography （CT） or MRI,while the other 3 cases had no positive finding in cerebellum by MRI,but 2 of whom were found reduced metabolism in cerebellar neuron during the test of positron emission tomography and CT.Comparson with the scores in the gross motor function measure （GMFM） and developmental quotient （DQ） of 5 domains （adaption,gross motor,fine motor,language and social development） in Gesell developmental Schedules before and after the rehabilitation approach：the totaI scores in GMFM after the treatment （56.42 ± 15.65） was significantly higher than that of before traatment （44.15 ±20.41） （t =-3.121,P 〈0.05）,while the DQ of gross motor after the treatment （28.27 ± 14.65） was sigrificantly lower than that before treatment （35.23 ± 17.23） （t =2.75,P 〈 0.05）.The other 4 domains before the treatment were 37.47 ± 14.47,37.06 ± 11.51,40.69 ± 12.10 and 40.41 ± 15.79,and had no remarkable change after the treatment （39.44 ±16.29,35.96 ±10.76,40.26 ±14.20 and 38.61± 11.95） （allP〉0.05）.Conclusions Children with chronic cerebellar ataxia presented as hypotonia with delayed motor function,and ususlly had inherent cerobellum abnormalities,without matter structure or function of the neuron.Chronic ataxia is an important symptom in genetic or metabolic disease,and a systematic approach may enhance diagnostic accuracy.
出处
《中华实用儿科临床杂志》
CAS
CSCD
北大核心
2014年第10期781-785,共5页
Chinese Journal of Applied Clinical Pediatrics
