Slight hormonal alterations in a patient with a large pheochromocytoma

We present a case report that the patient had symptoms suggesting pheochromocytoma, a large tumor (> 50 g) and a single minimally altered laboratorial test, exemplifying a diagnostic pitfall. A 31 y.o. male patient had two acute abdominal events, the last one accompanied by headache, arterial hypertension, facial flushing, perspiration and cutaneous pallor. In another admission, the patient had sustained arterial hypertension and cardiac arrhythmia. From laboratory analysis, the vanililmandelic acid was slightly modified. Scintigraphy disclosed a large adrenal mass suggesting pheochromocytoma. Histopathology confirmed this hypothesis. This report points out that patients with symptoms suggesting pheochromocytoma, even when plasma catecholamines and urinary metanephrines levels are normal, may harbor large tumors with a high catecholamines turnover or that had undergone hemorrhagic necrosis.     

Human cardiac explantation and autotransplantation: application in a patient with a large cardiac pheochromocytoma

A rare paraganglioma of the chromaffin type, located intrapericardially, was removed from a 42-year-old man by autotransplantation of the heart. Although the results were unfavorable in this case, the technique of autotransplantation deserves consideration in resecting large tumors that encroach upon the heart. To our knowledge, this technique has not been previously used for surgical excision of cardiac tumors.     

Pontine hemorrhage in a patient with pheochromocytoma

A 24-year-old woman with a two-year history of hypertension was hospitalized for coma and quadriplegia secondary to pontine hemorrhage. A seven-year history of intermittent severe headaches, diaphoresis, and anxiety together with persistent severe hypertension led to the diagnosis of pheochromocytoma. This unusual but devastating manifestation of pheochromocytoma illustrates the importance of excluding remedial forms of hypertension in young patients before initiating antihypertensive therapy.     

嗜铬细胞瘤的诊治

一例34岁男性因波动性高血压疑为嗜铬细胞瘤而转至本科就诊。该患者临床表现典型,人院查血浆甲氧基肾上腺素(MN)及甲氧基去甲肾上腺素(NMN)均明显升高,CT和PET-CT检查均发现左侧肾上腺占位,诊断为嗜铬细胞瘤。术前予以甲磺酸多沙唑嗪控释片4 mg/d口服2周,血压平稳,在腹腔镜下行左侧肾上腺肿瘤切除术。术后病理提示嗜铬细胞瘤,MN、NMN、血压恢复正常,症状缓解。该患者术后随访3年,血压、血浆MN、NMN水平均正常,肾上腺CT未见肿瘤复发。     

Relapse of Graves' disease in a patient with pheochromocytoma

We describe a patient with right adrenal tumor detected incidentally. The tumor was diagnosed as pheochromocytoma by endocrinological and radiological studies, and was removed surgically. Graves' disease, which had been in remission for more than two decades after discontinuation of antithyroid drug treatment, relapsed during preoperative evaluation of pheochromocytoma when the patient was treated with alpha- and beta1-adrenergic antagonists. Administration of methimazole resulted in a rapid improvement of thyroid function and the patient remained euthyroid on small doses of methimazole. This case may suggest possible involvement of excessive catecholamine secretion and beta2-adrenergic receptor activation by pheochromocytoma in the relapse of Graves' disease.     

Delayed diagnosis of congenital thrombotic thrombocytopenic purpura in a patient with recurrent strokes

Journal of Thrombosis and Thrombolysis - Congenital thrombotic thrombocytopenic purpura (cTTP) is caused by ADAMTS13 mutations and associated with high risk of microvascular thrombosis. A...     

A RET mutation with decreased penetrance in the family of a patient with a "sporadic" pheochromocytoma

We present the case of a 38-yr-old man with a sporadic, multifocal pheochromocytoma and paraganglioma who was discovered to carry a Y791F germline mutation in exon 13 of the RET proto-oncogene. This mutation was found in his 65-yr-old mother and his 86-yr-old maternal grandmother. Neither of them had either biochemical evidence of pheochromocytoma or medullary thyroid carcinoma. The patient had a pro-phylactic thyroidectomy, which revealed mild C-cell hyperplasia. This case brings to discussion several issues: (1) the benefit of screening patients with apparently sporadic pheochromocytomas for genetic mutations; (2) the management of patients and families with "lower-risk" RET mutations; and (3) the possibility that lower-penetrance RET mutations may contribute to the list of causes of familial pheochromocytomas.     

Unusual clinical manifestation of pheochromocytoma in a MEN2A patient

A case of unusual clinical manifestation of pheochromocytoma in a type 2A multiple endocrine neoplasia (MEN2A) patient is presented. A 27-year-old man affected by MEN2A syndrome, complaining of anxiety and depression, was admitted in our Division. Past medical history included a total thyroidectomy for medullary carcinoma in 1985, and left adrenalectomy for pheochromocytoma in 1994. Blood pressure was 130/ 85 mmHg without orthostatic hypotension and pulse rate was 72 beats/min. Laboratory data revealed thyroid hormones and carcinoembryonic antigen (CEA) in the normal range and high basal serum calcitonin levels (158 pg/ml). Plasma catecholamines and vanillylmandelic acid resulted in normal levels but epinephrine/norepinephrine ratio was elevated (0.65). The glucagon stimulation test showed positive clinical and biochemical response. Magnetic resonance imaging (MRI) and meta-iodobenzylguanidine (MIBG) scintiscan confirmed the presence of bilateral adrenal masses. Bilateral adrenalectomy by laparoscopic anterior approach was performed. Histology was consistent with adrenal pheochromocytomas. After surgical approach, psychiatric findings disappeared and did not recur at follow-up in spite of no medication for two years. In conclusion, bilateral pheochromocytoma is more frequent in MEN2A syndrome and probably understimated if the follow-up is not prolonged. In these cases clinical features are often aspecific and basal hormonal data may be normal in a great number of patients. Therefore long-term observation is justified in these patients. Pheochromocytoma was described as the "great mimic" for the numerous subjective manifestations. Differential diagnosis among typical features of neuropsychiatric disorders and pheochromocytoma must be considered.     

Emerging acute unilateral pulmonary edema in a patient with pheochromocytoma

We report a patient who presented with unilateral pulmonary edema without cardiomegaly. Our patient was finally diagnosed as having pheochromocytoma crisis.     

肾上腺嗜铬细胞瘤致异位ACTH综合征的临诊应对

肾上腺嗜铬细胞瘤引起的异位ACTH综合征非常罕见.本文详细介绍1例肾上腺嗜铬细胞瘤引起异位ACTH综合征临床特点并结合国内外研究进展,讨论其诊治.提出正确的诊断应结合临床、生化、激素分泌、影像学、病理学、肿瘤免疫组化染色进行最终的综合判断.     

Preoperative management of the pheochromocytoma patient

Pheochromocytomas are rare neuroendocrine tumors with a highly variable clinical presentation, but they most commonly present as spells of headaches, sweating, palpitations, and hypertension. Patients with pheochromocytoma may develop complicated and potentially lethal cardiovascular and other complications, especially in the setting of diagnostic or interventional procedures (e.g. upon induction of anesthesia or during surgery). The serious and potentially lethal nature of such complications is due to the potent effect of paroxysmal release of catecholamines. Because this warrants prompt diagnosis and treatment, the physician should be aware of the clinical manifestations and complications of catecholamine excess and be able to provide proper preoperative management to minimize catecholamine-related pre-, intra-, and postoperative adverse events. The following clinical scenario and discussion aim to enhance the knowledge of the physician regarding the behavior of pheochromocytoma and to outline current approaches to comprehensive preoperative management of patients suffering from this tumor.     

Improved safety of glucagon testing for pheochromocytoma by prior alpha-receptor blockade. A controlled trial in a patient with a mixed ganglioneuroma/pheochromocytoma

The glucagon stimulation test has been superseded in recent years by the clonidine suppression test because it can provoke dangerous increases in blood pressure in patients with pheochromocytomas. We describe the first patient in whom a pheochromocytoma was diagnosed by a glucagon test, after which the blood pressure (but not the plasma catecholamine) response to a second injection of glucagon was blocked by pretreatment with phenoxybenzamine. After the tumor (which contained both pheochromocytoma and ganglioneuroma tissue) was removed, a third glucagon test result was negative. This experience suggests that patients with normal plasma catecholamine levels who are suspected of harboring a pheochromocytoma may be accurately diagnosed, but potentially dangerous increases in blood pressure may be minimized, by performing the glucagon test after alpha-adrenergic blockade.     

Metoclopramide in the diagnosis of pheochromocytoma

Cardiovascular and plasma catecholamine responses to metoclopramide (MCP), a dopamine antagonist, were examined in 5 patients with pheochromocytoma, 12 patients with essential hypertension (EHT) and 9 normotensive (NT) subjects who displayed symptoms suggestive of pheochromocytoma on a constant daily intake of 100 mEq sodium and 80 mEq potassium. Significant pressor responses to intravenous doses of 5 mg of MCP, which produced no serious pressor episodes and no other undesirable side effects, were found only in the patients with pheochromocytoma, in contrast to the subjects with EHT and NT who tended to display slight depressor responses. After curative surgery for pheochromocytoma, the MCP-induced pressor effects returned to normal. Furthermore, the enhanced pressor effects of MCP in the patients with pheochromocytoma were associated with increased plasma norepinephrine (NE) concentrations. However, the plasma epinephrine (E) concentrations remained unchanged after the MCP injection. Thus, this dose of MCP appears to be a more suitable vasopressor provocative agent in the pharmacological diagnosis of pheochromocytoma compared to currently used agents.