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Urorectal Septum Malformation Sequence With Retroperitoneal Neuroblastoma: A Case Report of an Unusual Association.
Pediatric and Developmental Pathology ( IF 1.9 ) Pub Date : 2023-09-28 , DOI: 10.1177/10935266231196032
Immanuel Pradeep 1 , Naina Kumar 2 , Poojitha Kalyani 2 , Jitendra Singh Nigam 1 , Shrinivas Bheemrao Somalwar 1 , Annapurna Srirambhatla 3 , Ashutosh Rath 1
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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.

中文翻译:

尿直肠隔膜畸形序列与腹膜后神经母细胞瘤:异常关联的病例报告。

尿直肠隔膜畸形序列(URSMS)是一种罕见的疾病,其特征是肛门直肠隔膜无法分开泄殖腔并与泄殖腔膜融合。由于严重的肾功能障碍和肺发育不全,完全 URSMS 对新生儿通常是致命的。部分 URSMS 与肛门闭锁的单个会阴开口引流共同泄殖腔的生活兼容,适合手术治疗。由于涉及胃肠道、泌尿生殖道、心血管和肌肉骨骼系统的多系统、复杂异常,URSMS 的产前诊断具有挑战性。在本病例报告中,我们描述了一名患有部分 URSMS 的 15 周男性胎儿,其具有与腹膜后胎儿神经母细胞瘤和原位肾上腺神经母细胞瘤相关的一系列多系统结构异常。
更新日期:2023-09-28
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