腹膜后神经母细胞瘤合并泌尿直肠间隔畸形序列：一例异常关联病例报告。

IF 1.3 4区医学 Q3 PATHOLOGY

Pediatric and Developmental Pathology Pub Date : 2024-01-01 Epub Date: 2023-09-28 DOI:10.1177/10935266231196032

Immanuel Pradeep, Naina Kumar, Poojitha Kalyani, Jitendra Singh Nigam, Shrinivas Bheemrao Somalwar, Annapurna Srirambhatla, Ashutosh Rath

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引用次数: 0

摘要

泌尿直肠隔畸形序列（URMS）是一种罕见的疾病，其特征是肛门直肠隔未能分割泄殖腔并与泄殖腔膜融合。由于严重的肾功能不全和肺发育不全，新生儿完全性URMS通常是致命的。部分URMS与生活兼容，只有一个会阴开口引流一个常见的肛门闭锁泄殖腔，可接受手术治疗。URMS的产前诊断具有挑战性，因为涉及胃肠道、泌尿生殖道、心血管和肌肉骨骼系统的多系统复杂异常。在本病例报告中，我们描述了一名患有部分URMS的15周男性胎儿，该胎儿有一系列多系统结构异常，与腹膜后位置的胎儿神经母细胞瘤和原位肾上腺神经母细胞癌有关。

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Urorectal Septum Malformation Sequence With Retroperitoneal Neuroblastoma: A Case Report of an Unusual Association.

Urorectal septum malformation sequence (URSMS) is an uncommon disease characterized by a failure of the anorectal septum to divide the cloaca and fuse with the cloacal membrane. Complete URSMS is usually lethal in newborn due to severe renal dysfunction and pulmonary hypoplasia. Partial URSMS is compatible with life with a single perineal opening draining a common cloaca with an imperforate anus which amenable to surgical management. Antenatal diagnosis of URSMS is challenging because of multisystem, complex abnormalities involving gastrointestinal, urogenital tract, cardiovascular, and musculoskeletal systems. In this case report, we describe a 15-week male fetus with partial URSMS having a spectrum of multisystem structural anomalies associated with fetal neuroblastoma in retroperitoneal location and adrenal neuroblastoma in situ.

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来源期刊

Pediatric and Developmental Pathology 医学-病理学

CiteScore

3.70

自引率

5.30%

发文量

审稿时长

6-12 weeks

期刊介绍： The Journal covers the spectrum of disorders of early development (including embryology, placentology, and teratology), gestational and perinatal diseases, and all diseases of childhood. Studies may be in any field of experimental, anatomic, or clinical pathology, including molecular pathology. Case reports are published only if they provide new insights into disease mechanisms or new information.