Reporte de caso de feocromocitoma bilateral asociado a mutación del gen TMEM127. Primer caso chileno / Bilateral pheochromocytoma associates with TMEM127 gene mutation. Report of one case

Up to 40% of Pheochromocytoma/paraganglioma syndromes are associated with germline mutations. Therefore, they are considered familial and heritable. We report a 65 year old woman with hypertension, bilateral adrenal nodules found in the CT scan and elevated urinary metanephrines. Her genetic testing showed a c.117_120delGTCT TMEM127 gene mutation. She was subjected to a laparoscopic bilateral adrenal excision. After five years of follow up, no recurrence of the disease has been recorded.

Síndrome del dedo azul como manifestación de feocromocitoma / Blue toe syndrome as a clinical finding of pheochromocytoma

Los feocromocitomas son tumores que proceden de las células cromafines del sistema nervioso simpático y actúan sintetizando y liberando catecolaminas. Suelen presentarse entre la cuarta y quinta década de la vida y tienen presentaciones clínicas muy diversas. Ocurren solamente en 0.1-0.2% de la población hipertensa, constituyen una causa tratable y curable de hipertensión arterial, así como de otras manifestaciones derivadas de la liberación incontrolada de catecolaminas. La isquemia arterial periférica secundaria a la liberación masiva de aminas por un feocromocitoma es muy infrecuente. Aquí se presenta un caso clínico de feocromocitoma manifestado como síndrome del dedo azul en un paciente con pulsos distales conservados y el antecedente de mal control tensional a pesar de tratamiento con dos fármacos.

Pheochromocytomas are tumors that arise from chromaffin cells of the sympathetic nervous system and act by synthesizing and releasing catecholamines. They usually occur between the fourth and fifth decade of life and have a very wide clinical presentation. They occur only in 0.1-0.2% of the hypertensive population and represent a treatable and curable cause of arterial hypertension, as well as other symptoms derived from the uncontrolled secretion of catecholamines. Peripheral arterial ischemia secondary to massive amines release by a pheochromocytoma is a very uncommon condition. Here we report a case of pheochromocytoma manifested as blue finger syndrome in a patient with palpable distal pulses and history of poor blood pressure control despite treatment with two drugs.

Laparoscopic management of paraganglioma in a pregnant woman: a case report

ABSTRACT Introduction: Paraganglioma is an extremely rare catecholamine-producing tumor during pregnancy. Paraganglioma carries high risks of fetal and maternal mortality during pregnancy. We report a pregnant woman with paraganglioma in the second trimester. Case Description: A 24-year-old pregnant woman presented with severe hypertension in the 17th week of gestation. Hormonal examination and Magnetic Resonance Imaging (MRI) confirmed the diagnosis of extra adrenal pheochromocytoma (paraganglioma). She underwent laparoscopic tumor excision successfully. Conclusions: A high index of suspicion is needed to diagnose paraganglioma in a pregnant patient with hypertension. Laparoscopic tumor removal for paraganglioma seems to be a feasible and safe procedure during pregnancy.

Ruptured abdominal aortic aneurysm with a suprarenal tumor

Abstract This paper presents a case study of a patient that underwent surgery for a ruptured abdominal aneurysm. The postoperative course was complicated by resistant hypertension and tachycardia. A suprarenal mass was detected in the computed tomography scan with radiological suspicion of pheochromocytoma. Few cases of pheochromocytoma coexisting with aneurysms have been reported. Management of cardiovascular stability is crucial in such cases. Despite the lack of evidence, pheochromocytomas might have a role in the etiology of aortic aneurysms.

What determines mortality in malignant pheochromocytoma? - Report of a case with eighteen-year survival and review of the literature

SUMMARY Pheochromocytoma (PCC) is a tumor derived from adrenomedullary chromaffin cells. Prognosis of malignant PCC is generally poor due to local recurrence or metastasis. We aim to report a case of malignant PCC with 18-year survival and discuss which factors may be related to mortality and long-term survival in malignant pheochromocytoma. The patient, a 45-year-old man, reported sustained arterial hypertension with paroxysmal episodes of tachycardia, associated with head and neck burning sensation, and hand and foot tremors. Diagnosis of PCC was established biochemically and a tumor with infiltration of renal parenchyma was resected. No genetic mutation or copy number variations were identified in SDHB, SDHD, SDHC, MAX and VHL. Over 18 years, tumor progression was managed with 131I-MIBG (iodine-metaiodobenzylguanidine) and 177Lutetium-octreotate therapy. Currently, the patient is asymptomatic and presents sustained stable disease, despite the presence of lung, para-aortic lymph nodes and femoral metastases. Adequate response to treatment with control of tumor progression, absence of significant cardiovascular events and other neoplasms, and lack of mutations in the main predisposing genes reported so far may be factors possibly associated with the prolonged survival in this case. Early diagnosis and life-long follow-up in patients with malignant pheochromocytoma are known to be crucial in improving survival.

Feocromocitoma quístico gigante: reporte de un caso / Pheochromocytoma giant cystic: a case report

El feocromocitoma quístico gigante es tumor adrenal raro en el que predomina el curso asintomático; por lo que muchos de los casos no son diagnosticados hasta el momento de la cirugía. La simple movilización del tumor se asocia con el paso a la sangre de grandes cantidades de catecolaminas y a una elevada morbimortalidad.; por esta razón la cirugía per se y su manejo perioperatorio constituyen un enorme desafío. En este artículo se presenta el caso de un feocromocitoma gigante maligno (35 cm) que ocupaba todo el hemiabdomen derecho. Aun con el diagnóstico preoperatorio de feocromocitoma, el bloqueo farmacológico preoperatorio y las medidas intraoperatorias, el paciente falleció poco antes de que finalizara la cirugía.

The giant cystic pheochromocytoma is a rare adrenal tumor in the predominantly asymptomatic course; so many cases are not diagnosed until the time of surgery. The simple mobilization of the tumor is associated with the passage to the blood of large amounts of catecholamines and high morbidity and mortality. So the surgery itself and perioperative management are a huge challenge. This article describes the case of a malignant giant pheochromocytoma (35 cm) which occupied the entire right abdomen. Even with the preoperative diagnosis of pheochromocytoma, pharmacological blockade preoperative and intraoperative measures, the patient died shortly before the end of surgery.

Tumores que invaden la vena cava inferior: revisión pictográfica de los principales hallazgos imagenológicos en tomografía computarizada y resonancia magnética / Tumours that invade the inferior vena cava: an illustrative review of the main imaging features on computed tomography and magnetic resonance

Abstract. The objective of this article is to describe the multiple entities that can affect and invade the inferior vena cava. These can be either benign entities, but with an aggressive behaviour, or malignancies that originate in the organs adjacent to this vascular structure, or in itself as a leiomyosarcoma. The present review shows different examples in Computed Tomography and Magnetic Resonance, with cases of angiomyolipoma, phaeochromocytoma, adrenal cortical carcinoma, renal cell carcinoma, hepatocellular carcinoma, a retroperitoneal sarcoma and a leiomyosarcoma originating in the inferior vena cava. Besides these, there are situations that may lead to diagnostic errors, such as the flow artefacts and pseudolipoma.

El objetivo de este artículo es describir las múltiples entidades que pueden afectar e invadir la vena cava inferior. Entre ellas podemos enumerar tanto entidades benignas, pero con un comportamiento agresivo, como procesos malignos que se originan en órganos adyacentes a esta estructura vascular o en ella misma como el leiomiosarcoma. En la presente revisión se exponen diferentes ejemplos en tomografía computarizada y resonancia magnética con casos de angiomiolipoma, feocromocitoma, carcinoma suprarrenal, carcinoma de células renales, hepatocarcinoma, sarcoma retroperitoneal y leiomiosarcoma originado en la vena cava inferior. Además se exponen situaciones que pueden inducir a errores diagnósticos como los artefactos de flujo y el pseudolipoma.

Differentiation of Adrenal Adenoma and Nonadenoma in Unenhanced CT: New Optimal Threshold Value and the Usefulness of Size Criteria for Differentiation

OBJECTIVE: To determine the optimal threshold for the attenuation values in unenhanced computed tomography (CT) and assess the value of the size criteria for differentiating between an adrenal adenoma and a nonadenoma. MATERIALS AND METHODS: The unenhanced CT images of 45 patients at our institution, who underwent a surgical resection of an adrenal masses between January 2001 and July 2005, were retrospectively reviewed. Forty-five adrenal masses included 25 cortical adenomas, 12 pheochromocytomas, three lymphomas, and five metastases confirmed by pathology were examined. The CT images were obtained at a slice thickness of 2 mm to 3 mm. The mAs were varied from 100 to 160 and 200 to 280, while the 120 KVp was maintained in all cases. The mean attenuation values of an adrenal adenoma and nonadenoma were compared using an unpaired t test. The sensitivity, specificity, positive predictive value, negative predictive value, and accuracy at thresholds of 10 HU, 20 HU, and 25 HU were compared. The diagnostic accuracy according to the size criteria from 2 cm to 6 cm was also compared. RESULTS: The twenty-five adenomas showed significantly lower (p 90% but a specificity < 70%. Size criteria of 2 or 3 cm had a high specificity of 100% and 80% but a low sensitivity of 20% and 60%. CONCLUSION: The threshold attenuation values of 20 or 25 HU in the unenhanced CT appear optimal for discriminating an adrenal adenoma from a nonadenoma. The size criteria are of little value in differentiating adrenal masses because of their low specificity or low sensitivity.

Feocromocitoma: diagnóstico y resultados del tratamiento quirúrgico / Pheochromocytoma: diagnosis and results of the surgical treatment

Se realizó estudio prospectivo que incluyó a todos los pacientes con feocromocitoma, operados en el Servicio de Cirugía General del Hospital Clinicoquirúrgico ôHermanos Ameijeirasö, durante el período comprendido entre junio de 1984 y junio de 2000. Incluyó a 33 pacientes, 24 mujeres y 9 hombres. Predominó la afección en la tercera, cuarta y quinta décadas de la vida. La hipertensión arterial fue la manifestación clínica principal, presente en el 85(por ciento) de los casos; el incidentaloma y la neoplasia endocrina múltiple (NEM) IIA fueron otras formas de presentación. La tomografía axial computadorizada y el ultrasonido tuvieron una sensibilidad de 95 y 100 (por ciento), respectivamente, para el diagnóstico de la entidad. La adrenalectomía fue el tratamiento de elección y la lumbar (84,8 por ciento), la vía de abordaje más empleada. La apertura pleural fue el accidente más frecuente y las complicaciones predominantes fueron el neumotórax y el hematoma lumbar. El resultado final del tratamiento fue bueno en 28 pacientes (84,8 por ciento) y ocurrieron 2 fallecimientos (6,1 por ciento)(AU)

A prospective study that included all the patients with pheochromocytoma operated on at the General Surgery Service of Hermanos Ameijeiras Clinical and Surgical Hospital from June, 1984, to June, 2000, was conducted. 33 patients, 24 females and 9 males, were included. The affection predominated in the third, fourth and fifth decade of life. Arterial hypertension was the main clinical manifestation present in 85 percent of th cases. The incidentaloma and the multiple endocrine neoplasia (MEN) II A were other forms of presentation. Computed axial tomography and ultrasound had a sensitivity of 95 and 100 percent , respectively, for the diagnosis of the entity. Adrenalectomy was the elective treatment and the lumbar approach(84.8 percent ) was the most used. The pleural opening was the most frequent accident and the prevailing complications were pneumothorax and lumbar hematoma. The final result of the treatment was good in 28 patients (84.84 percent) and 2 deaths were registered (6.1 percent )(AU)

Pheochromocytoma of urinary bladder: report of a case and brief review of the literature

A case of pheochromocytoma of the bladder is presented with a review of the literature. We discuss general management principles of bladder pheochromocytoma. Successful diagnosis and treatment of this lesion requires a high index of suspicion based upon the patient's symptom complex, allowing preoperative preparation prior to surgical treatment