Zhang Liping, Jia Yu, Qi Xiaohong, Li Mingyu, Wang Shiyu, Wang Yuping
Department of Pediatrics, Xuanwu Hospital, Capital Medical University, Beijing, China.
Department of Neurology, Xuanwu Hospital, Capital Medical University, Beijing, China.
Childs Nerv Syst. 2020 Apr;36(4):873-875. doi: 10.1007/s00381-019-04399-3. Epub 2019 Nov 5.
Ataxia telangiectasia (AT) is an autosomal recessive multisystem disorder caused by mutations of ATM gene. And dystonia may develop as a late manifestation in typical AT. Here we report a novel homozygous frameshift ATM mutation (c.1402_1403delAA; p. K468Efs*18) in a 10-year-old male. The patient was diagnosed as typical AT according to clinical presentations which included progressive cerebellar ataxia, oculocutaneous telangiectasia, immune deficiency, and cerebellar atrophy. The genetic finding confirmed the diagnosis. Severe dystonia was presented in late stage of this disease. After 3 months of trihexyphenidyl treatment, the frequency of dystonia was reduced significantly. Although dystonia is not uncommon in phenotype spectrum of AT, compared with other symptoms of this syndrome, such as cerebellar ataxia and dysarthria, dystonia can be treated.
共济失调毛细血管扩张症（AT）是一种由ATM基因突变引起的常染色体隐性多系统疾病。在典型的AT中，肌张力障碍可能作为晚期表现出现。在此，我们报告一名10岁男性患者中一种新的纯合移码ATM突变（c.1402_1403delAA；p.K468Efs*18）。根据临床表现，包括进行性小脑共济失调、眼皮肤毛细血管扩张、免疫缺陷和小脑萎缩，该患者被诊断为典型的AT。基因检测结果证实了诊断。在该疾病晚期出现了严重的肌张力障碍。经过3个月的苯海索治疗，肌张力障碍的发作频率显著降低。虽然肌张力障碍在AT的表型谱中并不罕见，但与该综合征的其他症状，如小脑共济失调和构音障碍相比，肌张力障碍是可以治疗的。
