Histopathologic Findings Associated with Miller-Dieker Syndrome: An Autopsy Report.

与 Miller - Dieker 综合征相关的组织病理学发现 ：尸检报告.

• 发表时间: Nov 2022 1
• 来源期刊: Diseases
• DOI: 10.3390/diseases10040095
• PMID: 36412589
• 文章类型: Case Reports
• 作者列表: Bahmad HF,Ramesar L,Nosti C,Anthonio G,Brathwaite C,Vincentelli C,Castellano-Sánchez AA,Poppiti R

关键词: Miller–Dieker syndrome; facial dysmorphism; lissencephaly; neuronal heterotopia; sepsis

Abstract

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.

摘要

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。