Patel Nisha, Sollinger Christina, D'Angio Carl T, Vinocur Jeffrey M, Ackerman Kate G, Katzman Philip J
1 Department of Pathology and Laboratory Medicine, University of Rochester Medical Center, Rochester, New York, USA.
2 Department of Pediatrics, Golisano Children's Hospital, University of Rochester Medical Center, Rochester, New York, USA.
Pediatr Dev Pathol. 2017 Sep-Oct;20(5):421-425. doi: 10.1177/1093526616686446. Epub 2017 Jan 25.
Anterior diaphragmatic defects with pericardial involvement are extremely rare and diagnostically challenging entities encountered perinatally. While a majority of diaphragmatic defects occur in isolation, others are associated with multiple defects forming a complex of syndromes such as Pentalogy of Cantrell. Liver herniation into the pericardial sac poses a particular challenge and can mimic a pericardial tumor on prenatal ultrasound, yielding a different management course. The following case is an unusual presentation of a 30-week gestation female with an anterior midline diaphragmatic defect with liver herniation mimicking as a pericardial tumor, diagnosed at time of autopsy. Postmortem studies also found multiple congenital anomalies including an atrioventricular septal defect and midline gumline defect suggesting at least a partial Pentalogy of Cantrell or variant. Early recognition and screening for associated anomalies are essential for management in this subset of patients.
伴有心包受累的前膈缺损极为罕见，是围产期遇到的诊断难题。虽然大多数膈缺损是孤立发生的，但其他一些与多种缺损相关，形成诸如坎特雷尔五联症等综合征复合体。肝脏疝入心包囊带来了特殊挑战，在产前超声检查中可能会被误诊为心包肿瘤，从而导致不同的处理方案。以下病例是一名妊娠30周的女性，表现不寻常，患有前正中膈缺损并伴有肝脏疝入，在产前超声检查中被误诊为心包肿瘤，尸检时得以确诊。尸检研究还发现了多种先天性异常，包括房室间隔缺损和中线牙龈线缺损，提示至少存在部分坎特雷尔五联症或变异型。对于这部分患者，早期识别和筛查相关异常对于治疗至关重要。
