Hereditary paraganglioma presenting with atypical symptoms: Case report. Issue 46 (19th November 2021)

• Record Type: Journal Article
• Authors: Eguchi, Shu; Ono, Rintaro; Sato, Takeshi; Yada, Keigo; Umehara, Naoki; Narumi, Satoshi; Ichihashi, Yosuke; Nozaki, Taiki; Kanomata, Naoki; Hasegawa, Tomonobu; Ozawa, Miwa; Hasegawa, Daisuke
• Editors: Saranathan., Maya
• Is Part Of: Medicine. Volume 100:Issue 46(2021)
• Page Start: e27888
• Publication Date: 2021-11-19
• Subjects: case report -- paraganglioma -- polyuria -- posterior reversible encephalopathy syndrome -- proteinuria -- weight loss; Medicine -- Periodicals; Medicine -- Periodicals; Médecine -- Périodiques; Geneeskunde; Medicine; Periodicals; Periodicals; 610.5
• DOI: 10.1097/MD.0000000000027888
• Languages: English
• ISSNs: 0025-7974

Abstract

Abstract: 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.