PDF(Pubmed)
Abstract：
Pyruvate dehydrogenase complex deficiency (PDCD) is a disorder of mitochondrial metabolism that is caused by pathogenic variants in multiple genes, including PDHA1. Typical neonatal brain imaging findings in PDCD have been described, with a focus on malformative features and chronic encephaloclastic changes. However, fetal brain MRI imaging in confirmed PDCD has not been comprehensively described. We sought to demonstrate the prenatal neurological and systemic manifestations of PDCD determined by comprehensive fetal imaging and genomic sequencing. All fetuses with a diagnosis of genetic PDCD who had undergone fetal MRI were included in the study. Medical records, imaging data, and genetic testing results were reviewed and reported descriptively. Ten patients with diagnosis of PDCD were included. Most patients had corpus callosum dysgenesis, abnormal gyration pattern, reduced brain volumes, and periventricular cystic lesions. One patient had associated intraventricular hemorrhages. One patient had a midbrain malformation with aqueductal stenosis and severe hydrocephalus. Fetuses imaged in the second trimester were found to have enlargement of the ganglionic eminences with cystic cavitations, while those imaged in the third trimester had germinolytic cysts. Fetuses with PDCD have similar brain MRI findings to neonates described in the literature, although some of these findings may be subtle early in pregnancy. Additional features, such as cystic cavitations of the ganglionic eminences, are noted in the second trimester in fetuses with PDCD, and these may represent a novel early diagnostic marker for PDCD. Using fetal MRI to identify these radiological hallmarks to inform prenatal diagnosis of PDCD may guide genetic counseling, pregnancy decision-making, and neonatal care planning.
摘要：
丙酮酸脱氢酶复合物缺乏症(PDCD)是由多基因致病变异引起的线粒体代谢紊乱,包括PDHA1。已经描述了PDCD中典型的新生儿脑影像学发现，重点关注畸形特征和慢性脑碎性改变。然而,已证实的PDCD中的胎儿脑MRI成像尚未得到全面描述。我们试图通过全面的胎儿成像和基因组测序来证明PDCD的产前神经系统和全身性表现。所有诊断为遗传性PDCD且接受过胎儿MRI的胎儿均纳入研究。医疗记录,成像数据,和基因检测结果进行了回顾和描述性报道。包括10例诊断为PDCD的患者。大多数患者有call体发育不全，异常回转模式，大脑容量减少，和脑室周围囊性病变。一名患者患有相关的脑室内出血。一名患者患有中脑畸形，伴有导水管狭窄和严重的脑积水。在妊娠中期成像的胎儿被发现神经节隆起增大，并伴有囊性空洞，而那些在妊娠晚期成像的人有胚芽溶解囊肿。患有PDCD的胎儿具有与文献中描述的新生儿相似的脑MRI发现，尽管这些发现中的一些在怀孕早期可能是微妙的。附加功能,如神经节隆起的囊性空洞，在妊娠中期在患有PDCD的胎儿中注意到，这些可能是PDCD的一种新的早期诊断标志物。使用胎儿MRI识别这些放射学标志来告知PDCD的产前诊断可能会指导遗传咨询，怀孕决策,和新生儿护理规划。
