An unusual case of neuroblastoma presenting with prolonged watery diarrhea in a pediatric patient.

Claire Claeyssens, Peter Witters, Heidi Segers, Jan De Koster, Elena Levtchenko, Pieter Vermeersch
{"title":"An unusual case of neuroblastoma presenting with prolonged watery diarrhea in a pediatric patient.","authors":"Claire Claeyssens, Peter Witters, Heidi Segers, Jan De Koster, Elena Levtchenko, Pieter Vermeersch","doi":"10.11613/BM.2025.020901","DOIUrl":null,"url":null,"abstract":"<p><p>Neuroblastomas represent a diverse group of neuroblastic tumors characterized by variability in their clinical progression and degree of differentiation. In rare cases, patients with neuroblastoma may present with paraneoplastic syndromes, such as watery diarrhea, hypokalemia, and achlorhydria (WDHA syndrome), linked to the secretion of vasoactive intestinal peptide (VIP). We report a case of a 14-month-old girl presented with a three-week history of watery diarrhea and signs of dehydration with no other symptoms. The patient's medical history was unremarkable, and no medication use was reported. Venous blood gas analysis revealed a normal anion gap metabolic acidosis with severe hypokalemia. The patient was referred to our hospital 48 hours post-admission due to persistent hypokalemic metabolic acidosis, unresponsive to intravenous fluid therapy. The primary causes of normal anion gap metabolic acidosis in young children are gastrointestinal bicarbonate loss due to diarrhea and renal bicarbonate loss. Semi-quantitative urine organic acid analysis, reported 48 hours after admission, revealed increased vanillylmandelic acid (VMA) (89 mmol/mol creatinine) and homovanillic acid (HVA) (21 mmol/mol creatinine), raising the suspicion of a neuroblastoma. Subsequent analysis of an acidified urine sample confirmed a more than threefold increase in VMA, HVA, normetanephrine, norepinephrine, and 3-methoxytyramine concentrations. In addition, VIP was markedly elevated (1994 ng/L) in a blood sample. The diagnosis of neuroblastoma was confirmed through imaging and histological examination. This case illustrates that chronic diarrhea with metabolic dysregulation (<i>e.g.</i> hypokalemia) can be the first and only symptom in patients with VIP-secreting neuroblastoma which can result in delayed diagnosis of neuroblastoma.</p>","PeriodicalId":94370,"journal":{"name":"Biochemia medica","volume":"35 2","pages":"020901"},"PeriodicalIF":0.0000,"publicationDate":"2025-06-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12161515/pdf/","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Biochemia medica","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.11613/BM.2025.020901","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0

Abstract

Neuroblastomas represent a diverse group of neuroblastic tumors characterized by variability in their clinical progression and degree of differentiation. In rare cases, patients with neuroblastoma may present with paraneoplastic syndromes, such as watery diarrhea, hypokalemia, and achlorhydria (WDHA syndrome), linked to the secretion of vasoactive intestinal peptide (VIP). We report a case of a 14-month-old girl presented with a three-week history of watery diarrhea and signs of dehydration with no other symptoms. The patient's medical history was unremarkable, and no medication use was reported. Venous blood gas analysis revealed a normal anion gap metabolic acidosis with severe hypokalemia. The patient was referred to our hospital 48 hours post-admission due to persistent hypokalemic metabolic acidosis, unresponsive to intravenous fluid therapy. The primary causes of normal anion gap metabolic acidosis in young children are gastrointestinal bicarbonate loss due to diarrhea and renal bicarbonate loss. Semi-quantitative urine organic acid analysis, reported 48 hours after admission, revealed increased vanillylmandelic acid (VMA) (89 mmol/mol creatinine) and homovanillic acid (HVA) (21 mmol/mol creatinine), raising the suspicion of a neuroblastoma. Subsequent analysis of an acidified urine sample confirmed a more than threefold increase in VMA, HVA, normetanephrine, norepinephrine, and 3-methoxytyramine concentrations. In addition, VIP was markedly elevated (1994 ng/L) in a blood sample. The diagnosis of neuroblastoma was confirmed through imaging and histological examination. This case illustrates that chronic diarrhea with metabolic dysregulation (e.g. hypokalemia) can be the first and only symptom in patients with VIP-secreting neuroblastoma which can result in delayed diagnosis of neuroblastoma.

一个不寻常的病例神经母细胞瘤表现为长期水样腹泻的儿科患者。
神经母细胞瘤代表了一组不同的神经母细胞肿瘤,其临床进展和分化程度具有可变性。在极少数情况下,神经母细胞瘤患者可能出现副肿瘤综合征,如水样腹泻、低钾血症和缺氯血症(WDHA综合征),这与血管活性肠肽(VIP)的分泌有关。我们报告一个病例14个月大的女孩提出了三周的水样腹泻和脱水的迹象,没有其他症状。患者的病史一般,无用药记录。静脉血气分析显示正常阴离子间隙代谢性酸中毒伴严重低钾血症。患者入院48小时后因持续低钾代谢性酸中毒,静脉输液治疗无反应而转诊至我院。幼儿正常阴离子间隙代谢性酸中毒的主要原因是腹泻引起的胃肠道碳酸氢盐损失和肾脏碳酸氢盐损失。入院后48小时半定量尿有机酸分析显示,香草酸(VMA) (89 mmol/mol肌酐)和同型香草酸(HVA) (21 mmol/mol肌酐)升高,提示有神经母细胞瘤的可能。随后对酸化尿液样本的分析证实VMA、HVA、去甲肾上腺素、去甲肾上腺素和3-甲氧基酪胺浓度增加了三倍以上。此外,血液样本中VIP明显升高(1994 ng/L)。经影像学及组织学检查证实为神经母细胞瘤。本病例说明慢性腹泻伴代谢失调(如低钾血症)可能是vip分泌性神经母细胞瘤患者的第一和唯一症状,这可能导致神经母细胞瘤的延迟诊断。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
求助全文
约1分钟内获得全文 求助全文
来源期刊
自引率
0.00%
发文量
0
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
copy
已复制链接
快去分享给好友吧!
我知道了
右上角分享
点击右上角分享
0
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:604180095
Book学术官方微信