早发性小脑性共济失调,由于小说在ACO2突变(P2.224)

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摘要目的:报告一个ACO2突变和早发性小脑性共济失调患者视网膜参与背景:遗传性共济失调是一组异构障碍影响儿童和成人。几乎一半的病人,遗传紊乱的原因是未知的。ACO2突变在个人从两个无关的家庭已报告在2 - 6个月的年龄与躯干的张力减退,癫痫发作,眼科异常。当然是严重的和深刻的精神运动发育迟滞和进步的视力丧失。病例报告:我们报告一个3岁的男孩,生的一个简单的怀孕。家族史是不起眼的。男孩坐在有困难,无法坐到14个月。行走能力受损的运动障碍的存在,他只能走两国的支持。他还存在延迟演讲和语言发展。结果:神经系统检查证明著名的小脑参与眼球运动的运动障碍,树干的不稳定和不均衡,步态共济失调,轻微的肢体测距不准,降低肌肉张力。 Serial brain MRI showed no cerebellar anomalies. Hearing tests showed a mild auditory neuropathy. Repeated ophthalmologic evaluation failed to demonstrate any abnormalities. Whole exome sequencing (WES) found two novel mutations (c.2135C>T; p.P712L and c.1819C>T; p.R607C) in ACO2. Aconitase activity in patient fibroblasts was 60[percnt] of controls (0,43±0,04 n.v. 0,9 ±0,3 nmol/min/mgProt) and 10[percnt] of controls in isolated mitochondria (1,76 n.v. 11,2±4 nmol/min/mgProt). Respiratory chain enzymes activities in fibroblasts were normal, while high-resolution-respirometry showed 50[percnt] spare capacity comparing with controls. CONCLUSIONS: Defect in mitochondrial aconitase was associated with an infantile neurodegenerative disorder affecting cerebellum and retina. We report one case of aconitase deficiency with milder phenotype confined to cerebellum, thus suggesting that aconitase mutation must be considered in differential diagnosis of childhood-onset cerebellar ataxias, even when retinal involvement is not present.

披露:巴萨没有披露博士。尼尔博士没有披露。Naini博士没有披露。博士德体内已收到个人补偿活动与伊希斯制药作为顾问。DiMauro博士已经收到了个人在一篇社论中补偿MedLink神经学的能力。首页