Aherrao Nitin, Kumar Nilesh, Gambhir Indarajeet Singh, Kishore Dhiraj, Singh Suryakumar, Mishra Abhinandan, Anand Aravind
Department of Medicine, Institute of Medical Sciences, Banaras Hindu University, Varanasi 221005, India.
Case Rep Endocrinol. 2012;2012:824030. doi: 10.1155/2012/824030. Epub 2012 Jul 5.
Pheochromocytoma is a rare catecholamine-producing tumor arising from chromaffin tissue in the adrenal medulla, occurring in less than 0.2 percent of patients with hypertension. The mean age at diagnosis is about 40 years. Pheochromocytomas are commonly inherited as features of multiple endocrine neoplasia type 2 or several other pheochromocytoma-associated syndromes and have variable clinical presentation. Among the presenting symptoms, episodes of palpitations, headaches, and profuse sweating are typical and constitute a classic triad. We report a case of a 17-year-old male patient with rare bilateral pheochromocytoma presenting with persistent hiccups for 4 months and blurring of vision for 1 week, later followed by hypertensive crisis. There was neither family history of pheochromocytoma nor any classic symptoms. Patient was diagnosed with bilateral pheochromocytoma without any syndromic association. But still this patient needs to be followed for future development of medullary carcinoma of thyroid because it could be an initial presentation of MEN 2A/2B/VHL syndromes. Our paper highlights the importance of maintaining a high level of suspicion for persistent hiccups and careful clinical screening for hypertension even in absence of associated syndromes of pheochromocytoma and classical symptoms to achieve prompt diagnosis and to avoid improper management.
嗜铬细胞瘤是一种罕见的分泌儿茶酚胺的肿瘤,起源于肾上腺髓质的嗜铬组织,在高血压患者中的发生率不到0.2%。诊断时的平均年龄约为40岁。嗜铬细胞瘤通常作为2型多发性内分泌腺瘤或其他几种与嗜铬细胞瘤相关的综合征的特征而遗传,临床表现多样。在出现的症状中,心悸、头痛和多汗发作是典型的,构成经典三联征。我们报告一例17岁男性患者,患有罕见的双侧嗜铬细胞瘤,表现为持续打嗝4个月和视力模糊1周,随后出现高血压危象。既无嗜铬细胞瘤家族史,也无任何经典症状。患者被诊断为双侧嗜铬细胞瘤,无任何综合征关联。但该患者仍需随访甲状腺髓样癌的未来发展情况,因为这可能是MEN 2A/2B/VHL综合征的初始表现。我们的论文强调了即使在没有嗜铬细胞瘤相关综合征和经典症状的情况下,对持续打嗝保持高度怀疑以及对高血压进行仔细临床筛查的重要性,以实现及时诊断并避免不当处理。