A young patient with heart failure was diagnosed with extra-adrenal paraganglioma: a case report.

BACKGROUND: We present a case of pelvic paraganglioma that presented with heart failure as the primary symptom. CASE PRESENTATION: A 35-year-old man was admitted to hospital due to heart failure. Contrast-enhanced pelvic CT showed mass shadows in the posterior wall of the bladder and multiple enlarged lymph nodes in the retroperitoneal area. Ultrasound-guided puncture was performed, and the pathologic diagnosis was extra-adrenal paraganglioma. The patient refused any chemotherapy and died within six months of diagnosis. CONCLUSION: The possibility of neuroendocrine-related tumors, for example paragangliomas, should be considered in young patients with heart failure, especially those with concomitant hypertension and diabetes.

Update on Pheochromocytoma and Paraganglioma from the SSO Endocrine and Head and Neck Disease Site Working Group, Part 2 of 2: Perioperative Management and Outcomes of Pheochromocytoma and Paraganglioma.

This is the second part of a two-part review on pheochromocytoma and paragangliomas (PPGLs). In this part, perioperative management, including preoperative preparation, intraoperative, and postoperative interventions are reviewed. Current data on outcomes following resection are presented, including outcomes after cortical-sparing adrenalectomy for bilateral adrenal disease. In addition, pathological features of malignancy, surveillance considerations, and the management of advanced disease are also discussed.

Paraganglioma in the posterior mediastinum: a case report.

BACKGROUND: Paragangliomas are tumors that arise from extra-adrenal chromaffin cells. Herein, we present a rare case of a functional paraganglioma in the posterior mediastinum. CASE PRESENTATION: A 36-year-old man presented with paroxysms of chest pain and headache. At presentation, the patient's blood pressure was 190/120 mmHg. Chest computed tomography and magnetic resonance imaging revealed a left paravertebral mass in the posterior mediastinum. 123I-metaiodobenzylguanidine scanning revealed focally high tracer uptake in the left paravertebral area. The metanephrine level in the urine was elevated, confirming a rare, catecholamine-producing, functional paraganglioma in the posterior mediastinum. Before surgery, the patient was prepared by orally administering α- and ß-adrenergic blockers. The mass was then resected via a lateral thoracotomy. The metanephrine level in urine was normal 24 h after surgery. CONCLUSIONS: Paragangliomas in the posterior mediastinum are very rare, but more than half of all cases are functional. The associated symptoms are curable with complete resection, and long-term follow-up for recurrence is important.

Caveat for Vascular Surgeons: Lesson Learned from Acute Onset of a Rare Aortic Paraganglioma in a Young Boy.

BACKGROUND: Paragangliomas (PGs) are rare neuroendocrine tumors arising from the extra-adrenal autonomic paraganglia that are tiny organs formed by bundles of neuroendocrine cells derived from the embryonic neural crest and capable of catecholamines secretion. Diagnosis and treatment of aortic PGs could be a challenging issue when they present as an emergency setup (sudden abdominal pain and radiological images resembling a vascular emergency). CASE REPORT: We present a rare case of a 16-year-old man with a symptomatic and bleeding left para-aortic mass, treated in emergency with embolization, before a staged videolaparoscopic resection. Histology of the mass showed the presence of a large aortic PG. CONCLUSIONS: In case of active bleeding, in emergency, vascular consultants are always involved. Sometimes, circumstances are very atypical; therefore, it is essential to keep in mind rare pathologies. In such settings, multidisciplinary approach is primary to obtain a prompt diagnosis and appropriate treatment.

Retroperitoneal Functioning Paraganglioma--A Rare Case of Secondary Diabetes.

INTRODUCTION: Paragangliomas are rare neuroendocrine tumors that arise from the extra-adrenal autonomic paraganglia, which can derive from either parasympathetic or sympathetic paraganglia and are closely related to pheochromocytomas. CASE REPORT: We present the case of a young male patient of 37 years old, who was admitted for hypertensive crisis and palpitations. His medical history included medically controlled type 2 diabetes mellitus, (diagnosed 10 months ago), Hepatitis A. Hormonal evaluation revealed elevated urinary metanephrines and normetanephrines, with mainly increased normetanephrines (2330 ug/24 h). Plasmatic metanephrins were in normal range, but levels of plasmatic normetanephrins were elevated (952 pg/ml). The assessment of pituitary and aldosterone-renin axis values were within normal limits. Abdominal computed tomography showed left adrenal nodular lesion on the external arm, bilobulated, size 32/33 mm with maximum axial and cranio-caudal diameter of approx. 45 cm, suggestive of a benign lesion, keeping the cleavage plane to vecinatate structures. Left adrenalectomy was performed by laparoscopic approach. We mention that immediately after induction of anesthesia were recorded blood pressures of 298/143 mmHg. Histopathologic and immunohistochemical examination diagnose paraganglioma, without invasion of adjacent tissues. The patient evolution was favorable, with the remission of the symptoms and normalization of hormonal markers. It is imperative to note the remission of diabetes in the postoperative period. DISCUSSION: This is the case of a young patient with functional retroperitoneal paraganglioma, who presented with symptoms of pheochromocytoma. Compared to pheochromocytomas, paragangliomas are rarely symptomatic and functional. Association with diabetes is even more rare. Specialized investigations allowed the proper diagnosis and the therapeutic approach above was the result of a multidisciplinary cooperation.

Tumoral EPAS1 (HIF2A) mutations explain sporadic pheochromocytoma and paraganglioma in the absence of erythrocytosis.

Pheochromocytomas (PCCs) and paragangliomas (PGLs) are chromaffin-cell tumors that arise from the adrenal medulla and extra-adrenal paraganglia, respectively. The dysfunction of genes involved in the cellular response to hypoxia, such as VHL, EGL nine homolog 1, and the succinate dehydrogenase (SDH) genes, leads to a direct abrogation of hypoxia inducible factor (HIF) degradation, resulting in a pseudo-hypoxic state implicated in PCC/PGL development. Recently, somatic post-zygotic mutations in EPAS1 (HIF2A) have been found in patients with multiple PGLs and congenital erythrocytosis. We assessed 41 PCCs/PGLs for mutations in EPAS1 and herein describe the clinical, molecular and genetic characteristics of the 7 patients found to carry somatic EPAS1 mutations; 4 presented with multiple PGLs (3 of them also had congenital erythrocytosis), whereas 3 were single sporadic PCC/PGL cases. Gene expression analysis of EPAS1-mutated tumors revealed similar mRNA EPAS1 levels to those found in SDH-gene- and VHL-mutated cases and a significant up-regulation of two hypoxia-induced genes (PCSK6 and GNA14). Interestingly, single nucleotide polymorphism array analysis revealed an exclusive gain of chromosome 2p in three EPAS1-mutated tumors. Furthermore, multiplex-PCR screening for small rearrangements detected a specific EPAS1 gain in another EPAS1-mutated tumor and in three non-EPAS1-mutated cases. The finding that EPAS1 is involved in the sporadic presentation of the disease not only increases the percentage of PCCs/PGLs with known driver mutations, but also highlights the relevance of studying other hypoxia-related genes in apparently sporadic tumors. Finally, the detection of a specific copy number alteration affecting chromosome 2p in EPAS1-mutated tumors may guide the genetic diagnosis of patients with this disease.

[Glomuvenous malformations]. / Glomuvenöse Malformationen.

SYMPTOMS: A patient presented suffering from neural pain in the medial foot for a period of over 20 years. DIAGNOSIS: Diagnostic showed a widely spread soft-tissue tumor consisting of confluent glomuvenous malformations that was responsible for the immense pain syndrome.The solitary or multiform-appearing knots are not compressible and manifest as the characteristic syndromes of regional pain, sensitivity to coldness, or local pressure pain. Alternatively, the patient could also be completely symptom-free. TREATMENT: Because of the dimension of the tumor and the degree of suffering, a radical resection with simultaneous microsurgical reconstruction was carried out. Twelve weeks postoperatively, healing of the flap stabilized, the foot is fully weight-bearing, and the patient is pain-free.

Extra-adrenal paraganglioma presenting as acute chest pain mimicking acute myocardial infarction in a 10-year-old boy.

Extraadrenal paragangliomas are rare pediatric tumors with variable symptoms that cause difficultly in diagnosis and delayed treatment. We report the case of a 10-year-old boy who presented to the pediatric emergency department with acute chest pain and dyspnea mimicking a non-ST-segment elevation acute myocardial infarction. He was subsequently found to have an extraadrenal paraganglioma after a series of imaging and laboratory examinations. The mass was subsequently removed, and the diagnosis of extraadrenal paraganglioma was confirmed histologically. Acute coronary syndrome as the presenting feature of extraadrenal paragangliomas in pediatric population is an even rarer clinical entity.

Papilloedema secondary to a spinal paraganglioma.

An asymptomatic 72-year-old man presented with bilateral papilloedema. Cranial CT imaging was normal, but lumbar puncture found an opening pressure of 320 mmH2O (120-250) with raised cerebrospinal fluid protein, increased red blood cells and xanthochromia. MR scan of spine showed a cauda equina tumour, histologically defined as a paraganglioma. The papilloedema resolved after surgery.

Retroperitoneal venous malformation mimics paraganglioma on triple imaging modalities.

Here, we report a case of a woman in her 50s who was referred for an incidentally discovered lesion anterior to the origin of inferior vena cava suspicious for a paraganglioma following a CT scan for vaginal bleeding. A follow-up 68Ga-DOTATATE PET-CT and MRI of the abdomen reinforced the radiological impression of an extra-adrenal paraganglioma (EAP). The EAP was deemed non-functional given normal urine biogenic amine, supine plasma fractionated metanephrines and chromogranin A levels. The mass was resected laparoscopically without perioperative blockade. Histological examination revealed a venous malformation. Extrahepatic abdominal venous malformations are rare and can be indistinguishable from an EAP on imaging preoperatively. Although benign, the lesion nevertheless warrants excision as it is associated with a risk of haemorrhage.

Spitz nevus arising upon a congenital glomuvenous malformation.

There are several reports of the collision of vascular and pigmentary anomalies (e.g., phakomatosis pigmentovascularis) and the association between congenital melanocytic nevi and infantile hemangiomas. We report a case of Spitz nevus arising in skin overlying a congenital plaque-like glomuvenous malformation (GVM). This is the first report of a Spitz nevus arising in direct contiguity to a GVM.

Paragangliomas in an endemic area: from genetics to morphofunctional imaging. A pictorial essay.

The aim of this pictorial essay is to illustrate the morphological [computed tomography (CT) and magnetic resonance imaging (MRI)], vascular (angiography) and functional (nuclear medicine) features of paragangliomas, uncommon lesions of the head and neck region and even more of the thorax, abdomen and pelvis, arising in an endemic area in northern Italy. These hypervascular, well-circumscribed masses usually have innocuous clinical manifestations as slowly enlarging soft-tissue lesions; however, more rarely, they can cause cranial-nerve palsy, particularly lesions arising near the skull base, or symptoms related to their secreting activity. Most paragangliomas are benign and their prognosis is directly related to the location of the tumour: those arising at the carotid body have the best outcome, whereas those located at the skull base have a less favourable prognosis. Angiography is required preoperatively in larger paragangliomas for surgical planning (vascular mapping) and, rarely, for preoperative embolisation. Morphological and functional imaging is also mandatory for surgical and/or radiometabolic treatment planning and follow-up.

[Anesthetic hazards in an undiagnosed case of retroperitoneal paraganglioma].

We report a patient with undiagnosed retroperitoneal paraganglioma who developed an intraoperative hypertensive crisis. A 64-year-old female was scheduled for right partial mastectomy and removal of an abdominal mass, preoperatively diagnosed as a small intestine GIST. Surgery was performed under general anesthesia combined with epidural anesthesia with close monitoring. Immediately after the surgical manipulation of the abdominal mass, her systolic blood pressure rose to over 200 mmHg. This hypertensive crisis was managed with nicardipine and alprostadil combined with increased infusion rate of remifentanil and propofol. Thereafter, the patient was hemodynamically stable and the postoperative course was uneventful. Pathological examination identified the tumor as extraadrenal paraganglioma. The possibility of paraganglioma should be considered even in asymptomatic abdominal mass, and adequate precautions are required in such cases.

[Acute coronary syndrome as clinical presentation of cardiac paraganglioma]. / Síndrome coronário agudo como manifestação de paraganglioma cardíaco.

We present the case of a 60-year-old woman with a non secretor cardiac paraganglioma diagnosed in the setting of an acute coronary syndrome. The tumor was supplied by a huge branch of the circumflex artery and we admit flow steal as the cause of myocardial ischemia. Complete resection was feasible under cardiopulmonary bypass and the patient was discharged on the 9th postoperative day.

Case Report: An Unusual Case of Ectopic ACTH Syndrome Caused by Mediastinal Paraganglioma.

Ectopic adrenocorticotrophic hormone (ACTH) syndrome is not common, which is more unusual when caused by paraganglioma. We herein present a 40-year-old Chinese male who was diagnosed with ACTH-dependent Cushing's syndrome. However, the localization of the ACTH source was troublesome due to the inconsistent results of the high-dose dexamethasone suppression test and the desmopressin stimulation test. Bilateral inferior petrosal sinus sampling was performed, and ectopic ACTH syndrome was diagnosed. After 68Ga-DOTATATE-PET/CT and 18F-FDG-PET/CT were performed, it was localized in the anterior mediastinum. Post-operation histopathology demonstrated an ACTH-secreting mediastinal paraganglioma. The patient obtained complete clinical remission after a mediastinal tumorectomy.

Asymptomatic paraganglioma of the posterior mediastinum misdiagnosed until operation.

A 23-year-old female patient was treated for a posterior mediastinal tumor of unknown histology. Her systemic blood pressure increased rapidly to a critical level immediately after starting surgical manipulation of the tumor, which was suggestive of a hyperfunctioning pheochromocytoma. The tumor was removed after controlling the blood pressure and was histologically diagnosed as an extra-adrenal pheochromocytoma. Further postoperative investigations showed the tumor to be a sporadic type through further postoperative investigations and the patient had subsequently an uneventful course.

Congenital plaque-type glomuvenous malformation associated with chylous ascites.

Congenital plaque-type glomuvenous malformation (GVM) is caused by loss of function mutations in glomulin gene. We report a newborn with this rare vascular disorder associated with chylous ascites. The common mesenchymal origin of GVM and lymphatic vessels as well as the glomulin expression in vascular smooth muscle cells in utero could help explain this unusual prenatal complication of glomuvenous malformations.

Curious case of reversible left ventricular dysfunction in a young woman.

A 27-year-old woman presented with breathlessness on exertion of 3 months duration and was treated as dilated cardiomyopathy elsewhere. On evaluation, she was found to have left ventricular hypertrophy with ventricular dysfunction. CT angiogram revealed a peripheral-enhancing mass with central necrosis in the aortocaval region. Elevated serum metanephrine and uptake in 131iodine metaiodobenzylguanidine scan lead to the diagnosis of paraganglioma. Patient underwent open surgical excision of the tumour. Left ventricular function became normal and left ventricular hypertrophy resolved after surgery.