Liu Dongmei, Yu Jiali, Wang Xin, Yang Yang, Yu Li, Zeng Shi, Zhang Ming, Xu Ganqiong
Department of Ultrasound Diagnostic, The Second Xiangya Hospital, Central South University, Changsha, China.
Research Center of Ultrasound Diagnostic, The Second Xiangya Hospital, Central South University, Changsha, China.
Front Pediatr. 2022 Jul 19;10:937668. doi: 10.3389/fped.2022.937668. eCollection 2022.
Nemaline myopathy (NM) is a rare, hereditary heterogeneous myopathy. Fetal NM has a more severe disease course and a poorer prognosis and is usually lethal during the first few months of life. Hence, early prenatal diagnosis is especially important for clinical interventions and patient counseling. We report the case of a fetus with NM due to gene variation leading to arthrogryposis multiplex congenita (AMC). The ultrasonography and histopathology results revealed an enhanced echo intensity and decreased muscle thickness, which may be novel features providing early clues for the prenatal diagnosis of NM. Moreover, to our knowledge, this article is the first report to describe a case of NM associated with complex congenital heart disease (CHD).
杆状体肌病（NM）是一种罕见的遗传性异质性肌病。胎儿期NM病程更严重，预后更差，通常在出生后的头几个月内致命。因此，早期产前诊断对于临床干预和患者咨询尤为重要。我们报告了一例因基因变异导致多发性先天性关节挛缩症（AMC）的胎儿NM病例。超声检查和组织病理学结果显示回声强度增强和肌肉厚度减小，这可能是为NM产前诊断提供早期线索的新特征。此外，据我们所知，本文是首例描述与复杂性先天性心脏病（CHD）相关的NM病例的报告。
