Bilateral Adrenal Pheochromocytoma Research Articles

Single Stage Bilateral Adrenalectomy (Cortical-Sparing) and Pancreatectomy (Corpus-Sparing) in a Patient with Von Hippel-Lindau Disease.

Von Hippel-Lindau (VHL) disease is an autosomal dominant syndrome and affects many organs. We aim to report an adult patient with VHL disease having bilateral adrenal pheochromocytoma and multiple neuroendocrine tumors of the pancreas who was successfully treated with simultaneous function-preserving adrenalectomy and pancreatectomy. A 27-year-old woman was admitted to hospital with hypertension. The computed tomography of the abdomen revealed a solid tumor in both adrenal glands with the sizes of 12x7 cm on the right and 4x4 cm on the left. She also had two pancreatic solid masses in the head and three in the tail with varying sizes. The laboratory tests are all within normal limits except elevated 24-hour urinary metanephrine and normetanephrine. I-123 MIBG scanning showed increased uptake in both adrenal glands. Fine needle aspiration biopsy of the tumor on head of pancreas via endoscopic ultrasonography showed neuroendocrine tumor. Those findings were compatible with bilateral pheochromocytoma and multiple pancreatic neuroendocrine tumors and genetic tests revealed the mutation which confirmed the diagnosis of VHL disease. After suppression with alpha-1 inhibitor, right total, left cortical-sparing adrenalectomy, Whipple procedure for the pancreatic head lesions and spleen-preserving distal pancreatectomy were performed and pancreatic corpus was preserved. This case showed that multiple function-preserving procedures can be safely performed with oncological principles in patients with VHL disease.

Bilateral pheochromocytoma in patients with von Hippel–Lindau syndrome: clinical and molecular genetic features

Bilateral adrenal pheochromocytoma (PCС) is extremely rare in children, with major predisposing factors being multiple endocrine neoplasia type 2 and von Hippel–Lindau syndrome. In case of bilateral PCC with underlying von Hippel–Lindau syndrome, organ-preserving surgery is preferred in view of the low malignant potential of such neoplasms. We aimed to study clinical and molecular genetic features of patients with bilateral adrenal PCCs treated at the Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Ministry of Healthcare of the Russian Federation. The study was approved by the Independent Ethics Committee and the Scientific Council of the Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Ministry of Healthcare of the Russian Federation. The study included 20 patients with paraganglioma (PGL)/PCC (PPGL) who had received treatment (n = 17) or outpatient care (n = 3) at the Center over the period from 2012 to 2023. Bilateral adrenal PCC was diagnosed in 4 (20%) patients. In all these cases, the diagnosis was confirmed by histology. Molecular genetic testing was carried out at the Laboratory of Molecular Biology at the Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Ministry of Healthcare of the Russian Federation in order to search for germline pathogenic variants in PCC/PGL susceptibility genes. The median age of the four patients with bilateral adrenal PCC was 9.5 years (range 4.5–14.6 years). All the patients were male. In one patient, synchronous bilateral PCC/PGL was observed. In 100% of the cases, arterial hypertension was diagnosed at the onset of the primary disease and was treated with alpha-blockers as part of preparation for surgery. According to the results of a 24-hour urine biochemistry test, all the patients had at least a 4-fold increase above the upper limit of normal for normetanephrine levels. Molecular genetic testing using the multiplex ligation-dependent probe amplification method revealed a pathogenic germline variant in exon 3 of the VHL gene in all the children (4/4). Hereditary PPGL was proven in 2/4 (50%) patients. In all the cases, R0/R1 resection was achieved. Organ-sparing surgery on one/two adrenal glands was performed in 3/4 cases. One out of four (25%) patients developed a local relapse 18.4 months after diagnosis. The overall survival rate in this group was 100%, with a median follow-up time of 8.1 months (range 0.8–50.2 months). Bilateral adrenal PCC is a very rare childhood tumor. A medical genetic consultation is necessary to identify tumor predisposition syndromes. A multidisciplinary team discussion of a surgical strategy is recommended, with organ-sparing surgery on one or two adrenal glands being the treatment of choice that should be carried out at centers specializing in pediatric surgical oncology. Here, we report a rare clinical case of bilateral retroperitoneal PCC/PGL in a patient with von Hippel-Lindau syndrome. The patient's parents gave consent to the use of their child's data, including photographs, for research purposes and in publications.

Surgical approaches to the adrenal gland.

Review the literature on the surgical management of adrenal diseases, highlighting the various surgical approaches and their respective pros and cons. Minimally invasive adrenalectomy is commonly used for small and benign adrenal tumors, whereas open adrenalectomy is preferred for larger tumors and primary adrenal malignancy. Although minimally invasive adrenalectomy results in shorter recovery and fewer complications compared with open, the latter offers better oncologic outcomes in the setting of primary adrenal malignancy. Adrenalectomy is performed transabdominally or retroperitoneoscopically, both yielding equivalent results and recovery. Traditional laparoscopic or robotic equipment can be utilized for either minimally invasive approach. Subtotal adrenalectomy may be appropriate for patients with genetically associated pheochromocytoma to preserve cortical function and reduce the risk of adrenal insufficiency. However, the potential benefits of sparing adrenal function must be weighed against the risk of recurrence. Adrenalectomy is becoming increasingly common worldwide. For benign and small adrenal tumors, minimally invasive adrenalectomy is generally considered the standard approach, while open adrenalectomy is preferred for primary adrenal malignancy and larger tumors. Subtotal adrenalectomy may be appropriate for patients with bilateral adrenal pheochromocytoma, as it can reduce the need for lifelong glucocorticoid dependency.

A FAMILY WITH HEREDITARY PARAGANGLIOMA SECONDARY TO SDHD MUTATION

INTRODUCTIONA third of pheochromocytoma and paraganglioma (PPGL) tumours are part of a hereditary syndrome. Hereditary PPGL shows autosomal dominant inheritance with variable penetrance. Genetic testing is recommended in all patients diagnosed with PPGL regardless of age at presentation and family history. SDHD is the most frequently mutated gene in head and neck PGLs and associated tumours have low malignancy rate. This gene is maternally imprinted with silencing of the maternal allele, thus, the risk of developing paragangliomas is limited to offsprings who inherit the pathogenic variant from their father. Paternally inherited pathogenic variants are highly penetrant by age 50. We describe a family with hereditary paraganglioma due to mutation in the SDHD gene. RESULTSThe index patient is a 23 year-old female who was diagnosed to have bilateral adrenal pheochromocytoma with carotid and cardiac paragangliomas. Genetic screening revealed that she has SDHD mutation. Further family history revealed that 2 out of 3 paternal aunts have carotid paragangliomas. Her father, youngest of 5 siblings, paternal uncle and grandfather passed away at age 42, 40, 39 years old, respectively, due to severe headache and possible haemorrhagic stroke. Six other family members underwent genetic screening as well. Five family members were positive for SDHD mutation. These include the index patient’s elder sister, 3 paternal aunts (2 with carotid paragangliomas) and one male cousin. CONCLUSIONGenetic testing for family members of patients with hereditary paragangliomas is recommended after thorough genetic counselling. Genetic testing for firstand second-degree relatives is recommended for SDHDrelated paraganglioma. Healthy asymptomatic carriers for the gene mutation should undergo clinical assessment, plasma and/or urine metanephrines and normetanephrines and a combination of whole-body MRI (head and neck, abdominal and pelvic) and PET-CT imaging at initial screening. Thereafter, recommendations for long-term surveillance include annual clinical and biochemical evaluation along with whole body MRI repeated every 2-3 years.

A rare case of bilateral adrenal pheochromocytoma with unusual presentation: the case report

Here we report a 25 years old male patient came to our emergency department with chief complaints of headache from 3 months, blurring of vision 7 days, abdominal pain 7 days, and vomiting from 2 days. Young male, with no known comorbidities, presented to our casualty with headache since, 3 months, episodic in nature, increased over the last 1 week, holocranial, gradually progressive in severity. last recorded Blood pressure outside was 220/120 mmHg and papilledema were noted on fundoscopy. USG abdomen and pelvis, CECT abdomen done and diagnosed to have bilateral adrenal pheochromocytoma. Patient underwent bilateral adrenalectomy was performed with good intra op BP control. Right adrenals were enlarged and shows multiple nodular lesions, left adrenal noted shows nodular lesions. Surgery remains the first line of management in malignant pheochromocytoma. Norepinephrine, epinephrine, and dopamine all act on their target receptors, which causes a physiological change in the body. Increase in catecholamines cause severe hypertension and multiple systemic complications like (cardiovascular, cerebrovascular events) and can lead to death if untreated.

V10-02 ROBOTIC BILATERAL PARTIAL ADRENALECTOMY FOR PHEOCHROMOCYTOMA

You have accessJournal of UrologyAdrenal Surgery & Kidney Cancer II (Advanced Kidney Cancer & Vascular Reconstruction) (V10)1 Apr 2020V10-02 ROBOTIC BILATERAL PARTIAL ADRENALECTOMY FOR PHEOCHROMOCYTOMA Jeremy Archer*, Jonathan Pavlinec, Shavano Stedman, Tejal Patel, Sara Falzarano, and Li-Ming Su Jeremy Archer*Jeremy Archer* More articles by this author , Jonathan PavlinecJonathan Pavlinec More articles by this author , Shavano StedmanShavano Stedman More articles by this author , Tejal PatelTejal Patel More articles by this author , Sara FalzaranoSara Falzarano More articles by this author , and Li-Ming SuLi-Ming Su More articles by this author View All Author Informationhttps://doi.org/10.1097/JU.0000000000000935.02AboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissionsReprints ShareFacebookLinked InTwitterEmail Abstract INTRODUCTION AND OBJECTIVE: Patients with multiple endocrine neoplasia type 2 (MEN2) and von Hippel-Lindau disease (VHL) are risk of bilateral adrenal pheochromocytomas. Total adrenalectomy was historically the standard of care for patients with hereditary syndromes, but this leads to lifelong steroid supplementation. Adrenal-sparing surgery has been described in the treatment of adrenal incidentaloma, aldosteronoma, isolated metastasis, and the hereditary pheochromocytomas of MEN2 and VHL. Synchronous bilateral laparoscopic partial adrenalectomy with intraoperative ultrasonography has been described for pheochromocytomas as safe and technically feasible, but the majority of bilateral lesions have been treated by staged operations. We report our experience of synchronous bilateral robotic partial adrenalectomy for multifocal bilateral adrenal pheochromocytomas. METHODS: A 36-year-old female with marfanoid habitus and biopsy-proven medullary thyroid cancer was found to have bilateral adrenal masses on staging workup. Laboratory results showed elevated serum metanephrines, and she was started on alpha blockade with phenoxybenzamine. Imaging revealed a 3 cm right adrenal mass with a separate area of 1 cm irregularity and a 2 cm left adrenal lesion. Bilateral robotic partial adrenalectomies were successfully performed using a 4-arm technique with the daVinci Xi robotic platform (Intuitive, Sunnyvale CA) and a 12mm assistant trocar at the umbilicus. The patient was positioned in full-flank positioning for each side with docking from the same side of the room. The midline subxiphoid robotic 8mm and the 12mm assistant trocars were used for both portions of the operation. RESULTS: Enucleation of the tumors was performed with a total operative time of 330 minutes and estimated blood loss of 50mL. Pathology revealed three pheochromocytomas, and the patient was started post-operatively on a steroid taper. She was referred for genetic counseling given suspicion for MEN2B syndrome. CONCLUSIONS: Bilateral adrenal-sparing surgery for pheochromocytoma is safe and feasible and may be achieved using a robotic 4-arm technique with linear trocar configuration with repositioning. This approach in patients with genetic predisposition to synchronous adrenal lesions may preclude or delay the need for lifelong steroid supplementation. Source of Funding: N/A © 2020 by American Urological Association Education and Research, Inc.FiguresReferencesRelatedDetails Volume 203Issue Supplement 4April 2020Page: e931-e931 Advertisement Copyright & Permissions© 2020 by American Urological Association Education and Research, Inc.MetricsAuthor Information Jeremy Archer* More articles by this author Jonathan Pavlinec More articles by this author Shavano Stedman More articles by this author Tejal Patel More articles by this author Sara Falzarano More articles by this author Li-Ming Su More articles by this author Expand All Advertisement PDF downloadLoading ...

An Autopsy Case Report of Von Hippel-Lindau Syndrome-Type 2C Masquerading as Pre-eclampsia and Resulting in Maternal and Foetal Mortality

A 23-year-old female with seven months pregnancy, presented with gestational hypertension associated with mild proteinuria and was diagnosed clinically as pre-eclampsia and referred to tertiary care centre. She also had progressive breathlessness and giddiness. On examination, pallor, Blood pressure (BP) of 180/100 mm Hg and crepitations in left lower lung were noted. Laboratory investigations revealed neutrophilic leucocytosis and a profile of Disseminated Intravascular Coagulation (DIC). An ultrasound (USG) of the abdomen showed a gravid uterus with Intrauterine Foetal Death (IUFD) and a left adrenal mass. The clinical diagnosis was acute hypertensive heart failure with severe pre-eclampsia. She was put on three anti-hypertensives and ventilatory support, but she succumbed to her illness, within three days of admission. A complete autopsy was performed. The autopsy revealed hypertensive heart disease with marked left ventricular hypertrophy, severe coronary atherosclerosis, cystic bilateral adrenal pheochromocytoma, a cystic para-aortic paraganglioma, a pancreatic Neuroendocrine Tumour (NET) with lymph node metastasis. Hence, a diagnosis of DIC with refractory hypertension in Type 2C Von Hippel-Lindau (VHL) syndrome was established. VHL syndrome is an autosomal dominant disorder caused by germline VHL mutation which leads to development of various tumours. VHL disease is classified into four subtypes and VHL type 2C has predominantly pheochromocytomas without haemangioblastoma and Renal Cell Carcinoma (RCC). As the patient mimicked pre-eclampsia clinically, the diagnosis of VHL was missed. Bilateral adrenal cystic masses with gestational hypertension should be thoroughly evaluated, at the earliest, for familial pheochromocytomas or VHL syndromes as they may prove fatal.

Bilateral adrenal pheochromocytomas in a 14 year-old boy

Abstract Introduction Pheochromocytomas are catecholamine-secreting tumors arise from chromaffin cells of the adrenal medulla. Classical symptoms include palpitations, headaches, sweating and paroxysmal hypertension as a result of elevated catecolamine production. This case report aims to describe the clinical presentation, management and outcome of the phechromocytomas. Case A 14 year-old boy came with hypertensive crisis (blood pressure 220/140 mmHg), recurrent tension headache, excessive sweating, palpitation and weight loss during the last 1 year. Twenty four hour urinary catecholamine level was normal. Abdominal CT scan confirmed the suspicion of pheochromocytoma. After having preoperative treatment with nicardipine infusion, oral nifedipine and captopril, bilateral cortical sparing adrenalectomy was done. Nicardipine infusion was administered to maintain the blood pressure during surgery. Histopathology confirmed the diagnosis of adrenal pheochromocytoma Adrenocortical was preserved. Complete resolution of hypertension was achieved gradually after one month. Conclusion Pheochromocytomas is a rare disease which may lead to a life-threatening hypertension as a result of elevated catecolamine production. Initial recognition and appropriate management of pheochromocytomas are important. Preoperative management to normalize blood pressure followed by tumor removal has proved to be the ideal choice for good prognosis. Multidisciplinary team during preoperative, intraoperative and postoperative are required for successful outcome.

MON-392 Bilateral Pheocromocytoma With A Ret Proto-oncogene Mutation

Introduction: Pheochromocytoma is a rare neoplasm, occurring in less than 0.2% percent of patients with hypertension. We present a case of bilateral pheochromocytoma with a RET proto-oncogene mutation. Clinical case: 47 year old male with history of multiple hypertensive crises, 10 kg weight loss in a 3 month period and atrial fibrillation with rapid ventricular rate; heavy tobacco use; and family history of cerebrovascular disease. He presents to the emergency department with fever, right flank ecchymosis, abdominal pain, and blood pressure of 210/110 mmHg (n <120/90 mmHg); thyroid and pulmonary examination were normal. Abdominal CT scan revealed bilateral growth of adrenal glands, which prompted his hospital admission. Total plasma catecholamines were 12159 pg/ml (n <504 pg/ml), predominately epinephrine; 24 hour urine catecholamines measured 1254 µg (n <100 µg), and 24 hour urine metanephrines measured 22485 µg (n <900 µg). Abdominal MRI showed bilateral adrenal tumors; right adrenal gland measuring 3.5 x 4 cm and left adrenal gland 6 x 5 cm; heterogeneous, with cystic features and hyperintensity on T2 weighted images. Patient underwent bilateral adrenalectomy. The pathology report showed bilateral pheochromocytoma without capsular or vascular invasion. Peripheral leukocyte DNA analysis showed a RET proto-oncogene TGC-TAC mutation in codon 634 of exon 11. Postoperative testing showed normal catecholamine and metanephrine levels. Patient presented complete clinical remission. Conclusion: There are several familial disorders associated with adrenal pheochromocytoma, all of which have autosomal dominant inheritance: von Hippel-Lindau syndrome, multiple endocrine neoplasia type 2 and, less commonly, neurofibromatosis type 1. Multiple endocrine neoplasia type 2 is associated with mutations in the RET proto-oncogene. If a patient presents with bilateral adrenal pheochromocytoma but without a history of medullary thyroid cancer or goiter, tests for mutations in the following genes should be ordered sequentially: VHL, RET, SDHx, TMEM127, and MAX. This particular case presented with bilateral pheochromocytoma and a RET proto-oncogene mutation, but no other neoplasms. The definite treatment is laparoscopic adrenalectomy by an experienced endocrine surgeon with preoperative alpha-adrenergic blockade. Because of the identification of the RET proto-oncogene mutation a prophylactic thyroidectomy is recommended.

Pedigree analysis, diagnosis and treatment in Von Hippel-Lindau syndrome: A report of three cases.

The objective of the present study was to systematically investigate the clinical features, diagnosis and therapeutic treatment of Von Hippel-Lindau (VHL) syndrome in order to improve understanding of this disease. A total of 3 cases of VHL syndrome treated at the Affiliated Hospital of Zunyi Medical College (Zunyi, China) between September 2014 and October 2015 were retrospectively analyzed. The associated literature was reviewed, and the diagnostic and therapeutic features were discussed. Case 1 was diagnosed as VHL syndrome accompanied by a renal tumor on the right side, and radical tumor resection in the right kidney was performed. Postoperative pathological examination indicated clear cell carcinoma. Case 2 was diagnosed as VHL syndrome accompanied by bilateral adrenal pheochromocytoma. The left-side adrenal tumor was removed, and postoperative pathological analysis was suggestive of adrenal pheochromocytoma. Case 3 visited the hospital due to the presence of masses on the left and right sides of the kidney, but did not undergo surgery for personal reasons. Follow-ups were scheduled subsequent to surgery at another hospital. The diagnosis in all 3 cases was confirmed by genetic testing, where VHL mutations were detected in all patients. Following surgery, pedigree and genetic analysis was performed in all 3 pedigrees and VHL mutations were identified in 7 family members. The diagnosis of VHL syndrome should be based on the clinical manifestation of the patients and the results of genetic tests. DNA analysis of mutations is the main method for diagnosis. An appropriate surgical plan should be formulated based on the site, size and number of tumors, and the condition of the patient. Since VHL syndrome is an inheritable genetic disorder and relapse following surgery is common, pedigree analysis of the patient and lifelong follow-ups are essential. Additionally, physicians should pay attention to VHL syndrome in order to avoid missing diagnosis or misdiagnosis.

Temozolomide treatment of a malignant pheochromocytoma and an unresectable MAX-related paraganglioma

Pheochromocytomas (PCCs) and paragangliomas (PGLs) are neuroendocrine tumors with a strong genetic background. The mainstay of treatment for PCC/PGLs is surgery. However, for unresectable lesions, no curative treatment is currently available. Temozolomide (TMZ) has been shown to determine radiological and biochemical response in malignant PCC/PGLs. We report two cases of PCC/PGLs treated with TMZ. Case 1 is a 51-year-old man with local and distant recurrence (liver and bone metastases) of right adrenal PCC. Case 2 is a 54-year-old woman with a PCC/PGL syndrome caused by a mutation in MAX gene (c.171+1G>A), operated on for bilateral adrenal PCC and presenting with a large unresectable abdominal PGL. Both patients presented hypertension due to catecholamine hypersecretion. TMZ determined radiological response according to RECIST criteria, reduction of urinary catecholamine levels, and controlled hypertension in both patients. Furthermore, the current study demonstrates, for the first time, that MAX-related PGLs are responsive to TMZ.

Primary adrenal lymphoma with initial presentation concerning for bilateral adrenal pheochromocytomas

Primary adrenal non-Hodgkin’s lymphoma is rarely encountered. Clinical presentation is non-specific with fatigue, abdominal pain and B-symptoms being more commonly reported. We report a case of primary bilateral adrenal lymphoma...

Abstract #107: A Case of MEN2A Treated for Large; Bilateral Adrenal Pheochromocytomas with Adrenal Sparing Surgery

Abstract #107: A Case of MEN2A Treated for Large; Bilateral Adrenal Pheochromocytomas with Adrenal Sparing Surgery

Genetic analysis and clinical investigation of a pedigree with multiple endocrine neoplasia type 2A: A case report.

Multiple endocrine neoplasia 2A (MEN2A) is characterized by the coexistence of tumors that involve two or more endocrine glands within the same patient, and is defined as the occurrence of medullary thyroid carcinoma in association with pheochromocytoma (PHEO) and parathyroid tumors or hyperparathyroidism. The pathogenesis of MEN2A is due to the mutation of a tyrosine kinase receptor that is encoded by the rearrangement during transfection (RET) proto-oncogene. The mutation often occurs in exon 10q11.2. The present study reports the case of a 73-year-old man with severe hypercalcemia, bilateral adrenal PHEO and a thyroid nodule. A genetic panel was obtained, and the RET mutation was indicated. The pedigree of the patient was also studied. Genetic testing of the patient's son indicated heterozygosity for the same mutation at codon 634. The first symptom of the two patients was PHEO, which is uncommon. In addition, varied phenotypes were identified in the two patients. In the present study, the association between the phenotypic variation of the RET gene and the occurrence of MEN2A is discussed.

Perioperative Management in a Child with Familial Bilateral Pheochromocytoma

Purpose: Diagnosis and perioperative management of bilateral adrenal pheochromocytoma with a successful outcome is an apt combination of clinical knowledge and anaesthetic skills. Detailed history, meticulous physical examination, relevant laboratory investigations along with good preoperative pharmacological optimization and fluid resuscitation plays an important role in the perioperative period. Genetic testing and counseling should be offered to all the family members of patients suspected of familial predisposition. We report the anesthetic management of 10 year old male child with bilateral adrenal pheochromocytoma with family history of disease. Clinical Features: A10-year old male, presented to our pediatric outpatient clinic with gradually increasing holocranial headache, blurring of vision, sweating, photophobia, progressive quietness in nature and poor performance in school, increased thirst and urine output for one week along with pain over bilateral lower limbs and difficulty walking without support for 20days. Parents also reported two episodes of generalized convulsions with one episode of opisthotonic posturing and up rolling of eyes, which was sustained for 50 min. Family history of three sudden deaths, and father, a known case of pheochromocytoma along with clinical presentation, raised the suspicion of familial pheochromocytoma. Conclusion: Though pheochromocytomas are rare tumours, a high level of suspicion in paediatric age group, where patients don't present with classical symptoms, leads to early diagnosis and management and prevents catastrophic events. Young patients with bilateral disease and positive family history should be offered genetic testing. Preoperative catecholamine blockade and meticulous anaesthetic and surgical management are the keys to successful perioperative management of bilateral pheochromocytoma.

Bilateral adrenal pheochromocytoma in a 10-year old male patient

Abstract Pheochromocytoma, (PCC) is a sympathetic paraganglioma of chromaffin cell origin. Individuals with PCC, present with signs and symptoms of sympathetic overstimulation. In this article, we report a case of a 10-year-old male presenting with hypertensive encephalopathy precipitated by bilateral adrenal PCC. A 10 year old, male patient who presented to Emergency Department with history of headache, projectile vomiting, disturbed level of consciousness and two attacks of convulsion for one day. PCC are catecholamine secreting tumors. In the case we are describing, adrenoceptor overstimulation manifested as uncontrolled hypertension which progressed to hypertensive encephalopathy. Only 10% of PCC's cases were found to be bilateral. Though bilateral PCC is more often a part of a familial syndrome, in this case, we report bilateral PCC with no evidence of familial disorders that correlates with this presentation. Preoperative diagnosis is usually made by significantly high levels of catecholamines and their metabolites in blood and urine. In recent studies, using (131-I-MIBG, metaiodobenzylguanidine scan), in combination with platelet normetanephrin, showed 100% sensitivity in detecting PCC. Definitive treatment of PCC is surgical resection of the mass which is considered to be curative in 90% of the cases. Following Cortex sparing Bilateral Adrenalectomy, the patient showed complete resolution of hypertension. PCC should be considered as a possible diagnosis in children presenting with malignant hypertension. Stabilize blood pressure is important part in the preoperative period. Adrenal sparing surgery showed promising outcomes in treating cases of bilateral PCC.

Safety and curative effect analysis of bilateral simultaneous adrenalectomy for the treatment of the bilateral adrenal pheochromocytoma associated with multiple endocrine neoplasia type 2A

Objective To study the clinical features of the bilateral adrenal pheochromocytomas (PHEO) in patients associated with multiple endocrine neoplasia type 2A (MEN2A) and to evaluate the safety and feasibility of applying simultaneous bilateral adrenalectomy (SBA).Methods From November 2003 to April 2011,clinical data of 8 patients from 4 unrelated MEN2A families treated with SBA were analyzed.There were 6 males and 2 females.The mean age was 44 years (range,35 to 56 years).4 patients were asymptomatic and 4 had clinical features related to PHEO.The diagnosis of bilateral PHEO was made after the diagnosis of MTC in 4 cases,previous hypertension in 1 case,and family investigation found 3 MTC and all were found with hyperparathyroidism.Plasma catecholamines were substantially elevated in 4 patients.Ultrasound and computerized tomography (CT) examination showed bilateral adrenal masses,of which 6 were bilateral and multiple tumors,2 were single tumor in one side and multiple tumors in the other side.On contrast CT,the tumors displayed heterogeneous contrast enhancement and low density area in the center of the tumors observed in 3 cases;renal,splenic vessels displacement and deformation were observed;local lymph node enlargement was not found.The mean maximum diameter of PHEO was 4.4 cm (range,2.7 to 7.0 cm).RET screening showed a heterozygous nucleotide substitution on exon 11,c.G1901A (p.C634Y) in all patients.After adequate adrenergic blockade,the SBA was performed by a single surgeon,PHEO were extirpated by laparoscopic radical adrenalectomy in 2 patie.nts,while in other 6 patients,PHEO were removed by partial adrenalectomy or adrenal tumorectomy with at least one normal appearing adrenal tissue preserved (4 by laparoscopic approach and 2 by open approach).Results The procedures were successful carried out on 8 cases with bilateral PHEO.There were totally 43 pieces of tumor obtained.The average time of operation was 181 min (range,150 to 240 min).Mean blood loss was 171ml (range,100 to 300 ml).Blood pressure fluctuations happened in 2 cases during operation (maximum:230/110 vs minimum:70/40 mm Hg).Histopathology showed PHEO in all patients.During the follow-up of 35 months (range,3 to 90),local and/or distant metastatic recurrence was not found in all cases,while two treated by total bilateral adrenalectomy and one by adrenal-sparing surgery required corticosteroid replacement.Conclusions SBA for bilateral PHEO in MEN2A is technically safe and feasible.Transperitoneal laparoscopic partial adrenalectomy for the treatment of bilateral PHEO can be considered as preferential choice. Key words: Multiple endocrine neoplasia type 2A; Pheochromocytoma; Bilateral simultaneous adrenalectomy; RET gene; Laparoscopy

Bilateral pheochromocytomas in a child who had hemihypertrophy and alteration in the VHL gene

The association of hypertrophy with neoplasm is well-known. Pheochromocytoma is a rare neoplasm in children. Isolated hemihypertrophy and hemihypertrophy linked to other genetic disorders have rarely been associated with the development of pheochromocytoma, with only two cases reported to date. We report a novel case of a 4-year-old male with bilateral adrenal pheochromocytomas and lower extremity hemihypertrophy in the setting of von Hippel-Lindau syndrome.

Aortoarteritis: Could it be a form of catecholamine-induced vasculitis?

Catecholamine-induced vasculitis is a well known but rarely described entity. However, aortoarteritis as a manifestation of catecholamine-induced vasculitis is not described in the literature. We have reported two patients in whom pheochromocytoma coexisted with aortoarteritis. Both patients were young females with history of bilateral pheochromocytomas in more than one first-degree relative. Both patients also had bilateral adrenal pheochromocytomas (second patient also had paraganglioma at left renal hilum) with elevation of plasma free normetanephrine levels. We conclude that there may be an association between pheochromocytoma and aortoarteritis, and that catecholamine excess may have a role in the etiopathogenesis of aortoarteritis in these patients.

Screening of the RET Proto-oncogene in Families with Multiple Endocrine Neoplasia Type 2 in Algeria

The MEN 2 is a hereditary disorder of dominant autosomal inheritance with complete penetrance associated with germeline RET gene mutations a genetic marker of MTC. The systematic analysis of this gene in any MTC or suspiscion of MEN2A allows for the presymptomatic diagnosis of familial forms. Specific and early treatment, by a surgery cure, of related with genetic risk at an early clinicopathological stage allows a fit treatment, the only guarantee. Three index cases with endocrine neoplasia were hospitalized at the Department of Endocrinology: Two patients 36 years old and 44 years old for exploration and management of bilateral adrenal pheochromocytoma and the other patient aged 40 years old to support a medullary thyroid carcinoma. The three patients underwent endocrine and morphological exploration seeking MEN 2a. The three patients had primary hyperparathyroidism by adenoma, MTC and pheochromocytoma. Direct sequencing of exons in three index cases revealed a mutation at codon 634 in exon 11 of the RET gene with two types of mutations: A transition TgC in the heterozygous state transforming cysteine to arginine (C634R) in the first and third family (2/3 of the cases studied); A transition G gA in the heterozygous state changing the cysteine to tyrosine (C634Y) in the second group (1/3 of the cases studied). Phenotypic and genotypic correlation was found. The extended to members of the three families (siblings, parents and direct and collateral descendants) survey has been accepted by 11 subjects. 5 of them will carry the familial mutation (45.5% of subjects). The clinical and paraclinical found no manifestation of MEN 2 out of MTC. Total thyroidectomy and central neck dissection were indicated for them. The MEN2A syndromic disorders are serious multi-cancerous conditions. Their diagnosis is based on the recognition of their family character, and on exploration highlighting various endocrine abnormalities. Confirmation by the genetic study of RET gene enables a presymptomatic screening and early therapeutic care in related.