共济失调毛细血管扩张症（AT）是一类罕见累及神经、血管、皮肤及内分泌等多系统疾病,该病典型临床症状为婴幼儿期发病的进行性小脑共济失调,眼球结膜和皮肤毛细血管扩张,免疫缺陷,反复发作的副鼻窦炎及肺部感染。而共济失调毛细血管扩张样障碍（ATLD）临床特征与AT相似,但ATLD与AT相比,无毛细血管扩张、甲胎蛋白升高和免疫球蛋白水平降低等神经系统外特征。 女性患儿,11岁,间歇左膝关节疼痛3年余,运动、智力倒退2年余。临床发现：双手轮替试验阳性,闭目难立征阳性、指鼻试验阳性、跟-膝-胫试验弱阳性,左侧踝阵挛弱阳性,四肢肌力IV级,协调性差,步行时身体左右摇摆。全基因组测序发现MRE11基因两处变异即c.728 G>C及c.68 T>C,均尚未见报道。患儿诊断为ATLD,予电子生物反馈、低频脉冲、关节松动训练、牵引、作业疗法、手功能训练、运动课等康复训练康复后效果不佳。导致儿童运动发育落后和智力障碍的病因较多,及时基因检测可及早明确病因、产前咨询及母亲再孕时产前诊断,避免过度治疗及出生缺陷。

To improve the understanding of clinical phenotype and genotype of ataxia telangiectasia-like disorder 1 (ATLD1). Clinical data of a child with ATLD1 were retrospectively analyzed and related literatures were reviewed. An 11-year-old female patient was admitted to the hospital for regression in motor and intelligence development for more than two years. Clinical features include positive findings in hand rotation test, Romberg's sign, and finger-nose test, weakly positive findings in heel-knee-tibia test and left ankle clonus, other findings are grade IV muscle strength in all four limbs, poor coordination, and body swaying from side to side during walking. Two variants in MRE11 gene, c.728G>C and c.68G>C, were found by whole genome sequencing, which have not been reported. Diagnosis of ATLD was made, and rehabilitation with electronic biofeedback, low-frequency pulses, joint release training, traction, occupational therapy, hand function training, and exercise classes were ineffective. There are many causes of motor developmental delay and intellegence delay in children. Timely genetic testing helps early confirmed diagnosis. Guided prenatal counseling and diagnosis helps to avoid over-treatment and birth defects.