年轻女孩嗜铬细胞瘤1例报告一个隐藏在许多临床线索中的伟大的假面舞者

P. Dissanayake, N. Pathirana, I. U. Jayawardana, S. Pathmanathan, M. Sumanatilleke
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引用次数: 0

摘要

简介:嗜铬细胞瘤和副神经节瘤(PPGLs)是一种罕见的神经内分泌肿瘤,如果不及时诊断可能是致命的。但临床表现的可变性使诊断具有挑战性,即使是最有经验的临床医生。病例描述:我们描述了一个18岁女孩的嗜铬细胞瘤病例,她有许多非特异性症状超过3年,没有明显的高血压,但持续的心动过速。尽管有时有典型的ppgl症状(间歇性潮红、心悸和头痛),但由于患者就诊时所处的社会环境,她被标记为惊恐发作,因此没有怀疑是嗜铬细胞瘤。偶然发现一个大的肾上腺肿块,进一步的评估显示肾上腺素水平升高。她成功地接受了治疗性手术,至今仍无症状。考虑到她的年龄,潜在的遗传缺陷的可能性很高,因此她将接受终身监测,以防复发。结论:PPGLs表现多样,难以早期发现。在疾病的早期阶段,诊断需要高度怀疑。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
A case report on Phaeochromocytoma in a young girl; A great masquerader hidden among many clinical clues
Introduction: Phaeochromocytomas and paragangliomas (PPGLs) are rare neuroendocrine tumors that can be lethal if left undiagnosed. But the variability in the clinical presentation can make the diagnosis challenging even to the most experienced clinician. Case Description: We describe a case of a phaeochromocytoma in an 18-year-old girl who had had a multitude of non-specific symptoms over 3 years without apparent hypertension but with persistent tachycardia. Despite having had classic symptoms of PPGLs at times (episodic flushing, palpitations, and headaches), a phaeochromocytoma was not suspected as she was labeled with panic attacks due to her social circumstances at the time of presentation. A large adrenal mass was detected incidentally and further evaluation revealed elevated metanephrine levels. She underwent curative surgery successfully and remains symptoms free to date. She will be under lifelong surveillance for a recurrence as the possibility of an underlying genetic defect is high considering her young age. Conclusion: PPGLs can have a very diverse presentation, evading early detection. A high degree of suspicion is needed to diagnose during the early course of illnes.
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