Concurrent bilateral pheochromocytoma and thoracic paraganglioma during pregnancy.
Although hypertension occurring during pregnancies is not uncommon and its prognosis is generally excellent, some of its unusual causes can lead to catastrophic consequences, especially in undiagnosed cases. Here, we report a pregnant woman who presented with hypertension in her early pregnancy. It was subsequently found to be caused by bilateral pheochromocytoma. After removal of both tumors, catecholamine levels unexpectedly and unexplainably remained elevated. At 23 weeks of gestation, the fetus was found dead in utero. After the fetal death, additional studies were performed and revealed a thoracic paraganglioma. To our knowledge, this is the first report of a case of three catecholamine-producing tumors occurring concurrently during a pregnancy. Genetic analysis helped identify this unprecedented condition; the patient harbored a heterozygous missense mutation c.482G>A in exon 3 of the VHL gene, indicating von Hippel-Lindau syndrome. Physicians who care for hypertensive pregnant patients should be aware of this condition as its diagnosis would probably lead to a better outcome.
Division of Endocrine and Metabolism, Department of Internal Medicine, Faculty of Medicine, Chulalongkorn University, Patumwan, Bangkok, 10330, Thailand. Thiti.S@chula.ac.th
Thiti
T
Snabboon
Wanee
W
Plengpanich
Natnicha
N
Houngngam
Patinut
P
Buranasupkajorn
Nattachet
N
Plengvidhya
Wisan
W
Sereepapong
Sarat
S
Sunthornyothin
Vorasuk
V
Shotelersuk
D000310:Adrenal Gland Neoplasms / Q000150:complications* / Q000235:genetics; D000328:Adult; D005260:Female; D005313:Fetal Death; D006801:Humans; D008479:Mediastinal Neoplasms / Q000150:complications* / Q000235:genetics; D010235:Paraganglioma / Q000150:complications* / Q000235:genetics; D010673:Pheochromocytoma / Q000150:complications* / Q000235:genetics; D011247:Pregnancy; D011252:Pregnancy Complications, Neoplastic / Q000235:genetics; D051794:Von Hippel-Lindau Tumor Suppressor Protein / Q000235:genetics; D006623:von Hippel-Lindau Disease / Q000150:complications* / Q000235:genetics
D051794:Von Hippel-Lindau Tumor Suppressor Protein; C497446:VHL protein, human