Miller-Dieker综合征(MDS)是一种罕见的遗传性疾病,其特征是先天性脑畸形(脑回缺失或减少)。面部畸形,神经发育迟缓,胎儿宫内死亡,在婴儿或儿童早期死亡。我们介绍了一个4岁女孩的MDS(17p13.3p13.2删除),由于发烧和鼻子分泌物增加而入院。嘴,和气管造口管(因为她自出生以来一直依靠呼吸机和G管)。在住院期间,她出现了多器官衰竭,第三间距,和显著的乳酸性酸中毒。该患者有心脏呼吸骤停,并在住院4个月零8天后过期。我们提供了主要尸检结果的概要,专注于神经病理学异常。
Miller-Dieker syndrome (MDS) is a rare genetic disorder characterized by congenital lissencephaly (absent or diminished cerebral gyri), facial dysmorphisms, neurodevelopmental retardation, intrauterine fetal demise, and death in early infancy or childhood. We present a case of a 4-year-old girl with MDS (17p13.3p13.2 deletion) who was admitted to the hospital due to fever and increased secretions from her nose, mouth, and tracheostomy tube (as she had been on a ventilator and G-tube dependent since birth). During the course of hospitalization, she developed multiorgan failure, third spacing, and significant lactic acidosis. The patient had a cardiorespiratory arrest and expired after 4 months and 8 days of hospitalization. We provide a synopsis of the main autopsy findings, with a focus on the neuropathologic anomalies.