Hereditary paraganglioma presenting with atypical symptoms: Case report

Shu Eguchi, Rintaro Ono, Takeshi Sato, Keigo Yada, Naoki Umehara, Satoshi Narumi, Yosuke Ichihashi, Taiki Nozaki, Naoki Kanomata, Tomonobu Hasegawa, Miwa Ozawa, Daisuke Hasegawa

Research output: Contribution to journalArticlepeer-review


Rationale:Paraganglioma (PGL), an extra-adrenal pheochromocytoma, is a rare tumor, especially in children. While hypersecretion of catecholamines causes the classic triad of headaches, palpitations, and profuse sweating, prompt diagnosis is still challenging.Patient concerns:For 7 months, an 8-year-old boy complained of polyuria and weight loss, followed by proteinuria and headache for 1 month prior to admission. He was admitted to our hospital due to an afebrile seizure.Diagnosis:His blood pressure remained markedly elevated even after cessation of the convulsion. Magnetic resonance imaging of the brain revealed posterior reversible encephalopathy syndrome. Abdominal computed tomography showed a mass lesion encasing the left renal artery, measuring 41 mm in length along its major axis. The plasma and urine levels of normetanephrine were elevated. Additionally, iodine-123-metaiodobenzylguanidine scintigraphy showed an abnormal uptake in the abdominal mass with no evidence of metastasis. Based on these findings, we tentatively diagnosed him with PGL.Intervention:Substantial alpha-and beta-blocking procedures were performed, followed by a tumor resection and an extended left nephrectomy on day 31 of hospitalization. Pathological findings confirmed the diagnosis of PGL.Outcome:The postoperative course was uneventful, and his blood pressure normalized without the use of antihypertensive agents. Genetic testing revealed a known SDHB germline mutation. The same mutation was also detected on his father and paternal grandfather without any history of hypertension or malignant tumor.Lesson:It remains challenging to diagnose pheochromocytoma/paraganglioma (PPGL) promptly because PPGL can present with a variety of symptoms. Preceding symptoms of the presented case might be caused by PGL. Although PPGL is a rare disease, especially in children, it should be considered in differential diagnosis when various unexplained symptoms persist.

Original languageEnglish
Pages (from-to)E27888
JournalMedicine (United States)
Issue number46
Publication statusPublished - 2021 Nov 19


  • case report
  • paraganglioma
  • polyuria
  • posterior reversible encephalopathy syndrome
  • proteinuria
  • weight loss

ASJC Scopus subject areas

  • General Medicine


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