Pediatrics, Hospital do Divino Espirito Santo de Ponta Delgada EPE, Ponta Delgada, Portugal
Pediatric Cardiology, Centro Hospitalar de Lisboa Ocidental EPE Hospital de Santa Cruz, Carnaxide, Portugal.
BMJ Case Rep. 2022 Jul 27;15(7):e248691. doi: 10.1136/bcr-2021-248691.
We present the case of a boy in his middle childhood with gait ataxia and loss of reflexes with a 1-year onset. He had a background of an autism spectrum disorder but was otherwise healthy. A paediatric cardiology assessment was requested to investigate possible cardiac involvement associated to his neurological symptoms. Even though he had no cardiac symptoms and a normal electrocardiography, the echocardiogram revealed severe asymmetric left ventricle hypertrophy consistent with hypertrophic cardiomyopathy. This prompted genetic testing and the diagnosis of Friedreich's ataxia was confirmed.
我们报告了一例处于童年中期的男孩，其在 1 年前出现步态共济失调和反射消失。他有自闭症谱系障碍的背景，但其他方面健康。为了调查与他的神经症状相关的可能的心脏受累，请求儿科心脏病学评估。尽管他没有心脏症状和正常的心电图，但超声心动图显示严重的不对称左心室肥厚，符合肥厚型心肌病。这促使进行基因检测，并确认了弗里德里希共济失调的诊断。
