妊娠期嗜铬细胞瘤伴有冯-希佩尔-林道病和林奇综合征的罕见病例。

JCEM case reports Pub Date : 2024-06-21 eCollection Date: 2024-06-01 DOI:10.1210/jcemcr/luae097
Michael Tang, Shumei Meng
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引用次数: 0

摘要

嗜铬细胞瘤(PCC)和/或副神经节瘤(PGL)是妊娠期诊断的难题,因为其体征难以捉摸,而且检测困难。我们报告了一名无相关病史的 25 岁女性,她因高血压、视力下降和虚弱入院,初步诊断为子痫前期。影像学检查显示其髓质和胸椎有血管母细胞瘤、胰腺囊肿和肾囊肿。内分泌科就可能与冯-希佩尔-林道病(VHL)有关的 PCC 进行了会诊。尽管在磁共振成像和磁共振血管造影中未发现明显的PCCs/PGLs,但血清和尿液中的去甲肾上腺素水平却升高了。患者接受了多沙唑嗪和拉贝洛尔的药物治疗。尽管成功切除了髓质中的血管母细胞瘤,但患者仍出现呼吸困难,需要进行气管造口术和静脉-静脉体外膜氧合(V-V ECMO),并导致胎儿夭折。3 个月后,患者康复出院。随访遗传学结果为 VHL 和林奇综合征杂合。DOTATATE 正电子发射断层扫描/计算机断层扫描显示肝脏有一个小病灶,最大标准摄取值为 12.1。总之,该病例说明了在妊娠期间及时诊断和妥善处理 PCC/PGLs 以及在监测期间纳入遗传信息以降低发病率和死亡率的重要性。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
An Unusual Case of Pheochromocytoma Associated with von Hippel-Lindau Disease and Lynch Syndrome During Pregnancy.

Pheochromocytomas (PCCs) and/or paragangliomas (PGLs) are a challenge to diagnose during pregnancy because of elusive signs and testing difficulties. We report a 25-year-old woman with no pertinent medical history who presented to the hospital with hypertension, vision loss, and weakness and was initially diagnosed with preeclampsia. Imaging showed hemangioblastomas in the medulla and thoracic spine, pancreatic cysts, and a renal cyst. The endocrinology service was consulted for possible PCCs associated with von Hippel-Lindau disease (VHL). Serum and urine normetanephrine levels were elevated despite the lack of overt PCCs/PGLs seen on magnetic resonance imaging and magnetic resonance angiography. The patient was medically managed with doxazosin and then labetalol. Despite successful resection of the hemangioblastoma in the medulla, the patient suffered respiratory distress requiring tracheostomy and venous-venous extracorporeal membrane oxygenation (V-V ECMO) and fetal demise. After 3 months, the patient was discharged to rehabilitation. Follow-up genetics were heterozygous for VHL and Lynch syndrome. DOTATATE positron emission tomography/computed tomography scan showed a small hepatic focus of a maximum standard uptake value of 12.1. Altogether, this case illustrates the importance of prompt diagnosis and proper management of PCCs/PGLs during pregnancy and incorporating genetic information during surveillance to lower morbidity and mortality.

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