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妊娠后不久诊断出的伴有去甲肾上腺素分泌过多的喉下神经节细胞瘤

Inferior Laryngeal Nerve Paraganglioma With Norepinephrine Hypersecretion Diagnosed Shortly After Pregnancy.

作者信息

Kishlyansky David, Ramesh Rithvika, Cook Olivia, Luthra Meera

机构信息

McMaster University, Division of Endocrinology and Metabolism, Hamilton, ON L8S 4L8, Canada.

Michael G. DeGroote School of Medicine, McMaster University, Hamilton, ON L8P 1H6, Canada.

出版信息

JCEM Case Rep. 2024 Jun 28;2(7):luae107. doi: 10.1210/jcemcr/luae107. eCollection 2024 Jul.

Abstract

The diagnosis of pheochromocytoma or paraganglioma (PGL) during pregnancy is extremely rare, with 2 large case series suggesting that the prevalence is between 0.0002% and 0.007%. Here, we present a case of a 38-year-old woman who presented during pregnancy with clinical features suggestive of preeclampsia and was found to have a norepinephrine-secreting inferior laryngeal nerve PGL, which was diagnosed after pregnancy. She underwent uncomplicated surgical resection and genetic testing revealed a succinate dehydrogenase subunit B pathogenic variant. In conclusion, PGLs diagnosed during pregnancy and hypersecreting head and neck PGLs are both rare clinical entities. Hyperfunctioning PGLs may mimic pregnancy-induced hypertension or preeclampsia. Metanephrine testing should be considered in patients with atypical features and can be reliably assessed using nonpregnant reference ranges. Overall, maternal and fetal mortality has improved considerably with early diagnosis and treatment.

摘要

孕期诊断嗜铬细胞瘤或副神经节瘤(PGL)极为罕见,两项大型病例系列研究表明其患病率在0.0002%至0.007%之间。在此,我们报告一例38岁女性病例,该患者孕期出现提示子痫前期的临床特征,产后被发现患有分泌去甲肾上腺素的喉下神经PGL。她接受了无并发症的手术切除,基因检测发现琥珀酸脱氢酶亚基B致病性变异。总之,孕期诊断的PGL和分泌过多的头颈部PGL均为罕见的临床实体。功能亢进的PGL可能会模仿妊娠高血压或子痫前期。对于具有非典型特征的患者应考虑进行间甲肾上腺素检测,并且可以使用非孕期参考范围进行可靠评估。总体而言,早期诊断和治疗使母婴死亡率有了显著改善。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2993/11211820/58d55ced9de5/luae107f1.jpg

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