Clinical analysis of 15 cases with childhood chronic cerebellar ataxia / 中华实用儿科临床杂志

ABSTRACT

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.