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

JCEM case reports Pub Date : 2024-06-28 eCollection Date: 2024-07-01 DOI:10.1210/jcemcr/luae107
David Kishlyansky, Rithvika Ramesh, Olivia Cook, Meera Luthra
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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 (SDHB) 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.

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妊娠后不久诊断出伴有去甲肾上腺素分泌过多的喉下神经副神经节瘤
妊娠期嗜铬细胞瘤或副神经节瘤(PGL)的诊断极为罕见,两个大型病例系列表明其发病率介于 0.0002% 和 0.007% 之间。在此,我们介绍了一例 38 岁女性的病例,她在怀孕期间出现了提示子痫前期的临床特征,被发现患有分泌去甲肾上腺素的下喉神经 PGL,并在怀孕后确诊。她接受了不复杂的手术切除,基因检测发现了琥珀酸脱氢酶亚基 B(SDHB)致病变体。总之,妊娠期诊断的PGL和头颈部分泌过多的PGL都是罕见的临床病例。功能亢进的PGL可能会模拟妊娠诱发的高血压或子痫前期。对于具有不典型特征的患者,应考虑进行肾上腺素检测,并使用非妊娠参考范围进行可靠评估。总之,通过早期诊断和治疗,孕产妇和胎儿的死亡率已大大降低。
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