Pediatr Ann. 2023 Aug;52(8):e283-e291. doi: 10.3928/19382359-20230613-02. Epub 2023 Aug 1.
Miller-Dieker syndrome (MDS) is a rare disease characterized by type I lissencephaly, craniofacial dysmorphisms, intellectual disability, seizures, and death in early childhood. We report a case of a premature infant with MDS with an anomalous right coronary artery from the pulmonary artery who developed sudden bowel ischemia. This case prompts the reconsideration of cardiovascular involvement in patients with MDS. In addition, this review highlights key clinical features and reviews the critical manifestations of MDS that persist into childhood. .
米勒-迪克综合征(MDS)是一种罕见疾病,其特征为 I 型无脑回畸形、颅面发育不良、智力障碍、癫痫发作和婴幼儿期死亡。我们报告了一例 MDS 合并源自肺动脉的异常右冠状动脉的早产儿病例,该患儿发生了突发性肠缺血。该病例提示我们重新考虑 MDS 患者的心血管受累问题。此外,该综述强调了 MDS 的关键临床特征,并回顾了持续至儿童期的 MDS 的关键表现。