意想不到的:神经母细胞瘤患者与VACTERL相关。

IF 0.6 Q3 MEDICINE, GENERAL & INTERNAL
Sarah Braungart, Caitlin Daff
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引用次数: 0

摘要

VACTERL相关性的特征是椎体缺损、肛肠畸形、心脏缺损、气管-食管瘘、肾脏异常和肢体异常的可变组合。在这些病人身上通常不会发现恶性肿瘤。我们提出的情况下,婴儿诊断与VACTERL协会在出生时由于肛门直肠畸形,心脏和椎体异常。进一步影像学检查潜在的脊髓异常。扫描发现左侧肾上腺偶发肿块。诊断检查包括活组织检查证实肾上腺肿块为中度危险左肾上腺神经母细胞瘤,伴左肾血管和肠系膜上动脉被包裹。据我们所知,这是第一例与VACTERL相关的婴儿患者同时诊断为神经母细胞瘤。本病例表明,专家对专科影像的仔细检查可以偶然发现意想不到的发现,这需要对患者的治疗途径进行重大改变。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Expect the unexpected: neuroblastoma in a patient with the VACTERL association.

The VACTERL association is characterised by a variable combination of vertebral defects, anorectal malformation, cardiac defects, tracheo-oesophageal fistula, renal anomalies and limb abnormalities. Malignant tumours are not usually detected in these patients.We present the case of an infant diagnosed with the VACTERL association at birth due to an anorectal malformation, cardiac and vertebral anomalies. Further imaging was obtained to investigate potential spinal cord anomalies. This scan detected an incidental left adrenal mass. Diagnostic work-up including biopsy confirmed the adrenal mass as an intermediate risk left adrenal neuroblastoma with encasement of the left renal vessels and superior mesenteric artery.To our knowledge, this is the first case of an infant patient with the VACTERL association and simultaneous diagnosis of a neuroblastoma. This case demonstrates how careful expert review of specialist imaging can incidentally reveal unexpected findings which require a significant alteration of a patient's treatment pathway.

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来源期刊
BMJ Case Reports
BMJ Case Reports Medicine-Medicine (all)
CiteScore
1.40
自引率
0.00%
发文量
1588
期刊介绍: BMJ Case Reports is an important educational resource offering a high volume of cases in all disciplines so that healthcare professionals, researchers and others can easily find clinically important information on common and rare conditions. All articles are peer reviewed and copy edited before publication. BMJ Case Reports is not an edition or supplement of the BMJ.
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