Solomon Nadia, Hayes Jonathan
St. George's University School of Medicine, Windward Islands Research and Education Foundation.
District 20 Medical Examiners Office.
Acad Forensic Pathol. 2016 Dec;6(4):720-730. doi: 10.23907/2016.068. Epub 2016 Dec 1.
Congenital diaphragmatic hernia (CDH) is an uncommon condition in which the embryological elements of the diaphragm fail to fuse completely, leaving a defect in the barrier separating the thorax from the abdomen. Although most cases are symptomatic at birth and lead to prompt treatment, asymptomatic cases may go undetected, presenting later on as a result of sudden or exacerbated herniation of abdominal contents into the thoracic cavity. Presented here is the sudden death of a 6-week-old girl. At autopsy, the abdominal organs were found to be filling the left chest cavity, having herniated through a previously undetected posterior diaphragmatic hernia of Bochdalek. The literature on CDH is reviewed, including discussion of the embryological origin, clinical presentation, diagnosis, and treatment of the condition. Special emphasis is placed on the challenges posed by these late-presenting cases, particularly in their diagnosis and management, highlighting the importance of developing more direct methods of detection for these very reasons.
先天性膈疝(CDH)是一种罕见的疾病,其中膈肌的胚胎成分未能完全融合,在分隔胸腔和腹腔的屏障上留下一个缺陷。虽然大多数病例在出生时就有症状并能得到及时治疗,但无症状的病例可能未被发现,后来由于腹腔内容物突然或加剧疝入胸腔而出现症状。本文介绍了一名6周大女孩的猝死病例。尸检时发现腹腔器官通过一个先前未被发现的Bochdalek后外侧膈疝疝入左胸腔。本文回顾了关于CDH的文献,包括对该疾病的胚胎起源、临床表现、诊断和治疗的讨论。特别强调了这些迟发性病例所带来的挑战,尤其是在诊断和管理方面,正因如此凸显了开发更直接检测方法的重要性。