Biochemically normal adrenal pheochromocytoma following extensive central necrosis in a child with von Hippel-Lindau (VHL) gene mutation

Pheochromocytomas are rare in children. The diagnosis is usually established from a raised urinary or plasma catecholamine or their metabolites. We present a girl aged 11 years who manifested with a hypertensive crisis secondary to an adrenal tumour but with unexpectedly normal urinary metanephrine and catecholamine results. She improved spontaneously following the crisis and underwent surgery later. The histopathological study confirmed a pheochromocytoma with large central necrosis. Her genetic screening reported a pathogenic von Hippel-Lindau gene mutation. Surveillance scan postsurgery detected no other tumours. Following the catecholamine crisis, an acute infarct occurred, resulting in extensive tumour necrosis and subsequent rapid remission of symptoms and paradoxically normal biochemical markers. Although not unheard of in adults, we believe this is the first reported case of an extensive spontaneous necrosis resulting in a biochemically normal pheochromocytoma in a child.

18F-FDG PET/CT in a Patient With Malignant Pheochromocytoma Recurrence and Bone Metastasis After Operation—Case Report and Review of the Literature

Introduction: Bone metastasis of malignant pheochromocytoma is a rare disease. We report a patient with a 10-year history who underwent 18F-FDG PET/CT to detect bone metastasis and receive radiotherapy and chemotherapy with complete response for bilateral iliac pain.Case presentation: A 48-year-old male patient complained of dizziness, hypertension, and bilateral iliac pain for 2 months. The patient had a history of resection of bilateral malignant adrenal pheochromocytoma 10 years earlier, and all complaints were relieved immediately after operation. 18F-FDGPET/CT showed abdominal lymph node uptake and multiple bone uptake, as well as multiple brown fat uptake. A biopsy of the left ilium confirms the metastasis of malignant pheochromocytoma.Discussion: In our literature review, we discuss the metastasis of pheochromocytoma reported by some scholars, and the role of radionuclides such as 18F-FDG PET/CT, 18F-DOPA PET/CT, I-123MIBG, and 68Ga-DOTATATE PET, in the diagnosis of malignant pheochromocytoma. The patient above is a good case for clinicians in the diagnosis and treatment of metastatic pheochromocytoma, especially in some hospitals with only 18F-FDG imaging agents.Conclusion: A review of this case and similar rare cases in the literature illustrates the importance of 18F-FDG PET/CT in the diagnosis of malignant pheochromocytoma.

Adrenal pheochromocytoma with involvement of aorta and left renal artery: salvaged with adrenalectomy and nephrectomy

Large adrenal pheochromocytomas encasing the renal artery are a rare entity. The management of such challenging cases is surgical resection. The involvement of renal tissue and renal artery may necessitate meticulous dissection and concomitant nephrectomy. Here, we present a case of 41-year-old man diagnosed with left adrenal pheochromocytoma with complete encasement of left renal artery and partial encasement of aorta. Open left adrenalectomy and nephrectomy was performed after adequate preoperative optimisation. The patient is doing well at 6-month follow-up. Large adrenal pheochromocytoma with renal involvement is a rare presentation and requires optimal preoperative imaging, adequate preoperative alpha and beta blockade and meticulous surgical technique.

Paraganglioma Presenting Atypical Initial Symptoms: a Case Report

Background: Paraganglioma (PGL), an extra-adrenal pheochromocytoma, is a rare tumor, especially in children. Here, we present a case of PGL with atypical initial symptoms.Case presentation: For seven months, an eight-year-old boy complained of polyuria and weight loss, followed by proteinuria and headache for one month prior to admission. He was admitted to our hospital due to an afebrile seizure. His blood pressure remained markedly elevated even after cessation of the convulsion. Magnetic resonance imaging of the brain revealed posterior reversible encephalopathy syndrome. Abdominal computed tomography showed a mass lesion encasing the left renal artery, measuring 41 mm in length along its major axis. The plasma and urine levels of normetanephrine were elevated. Additionally, iodine-123-metaiodobenzylguanidine scintigraphy showed an abnormal uptake in the abdominal mass with no evidence of metastasis. We tentatively diagnosed him with PGL. Substantial alpha- and beta-blocking procedures were performed, followed by a tumor resection and an extended left nephrectomy on day 31 of hospitalization. Pathological findings confirmed the diagnosis of PGL. The postoperative course was uneventful, and his blood pressure normalized without the use of antihypertensive agents. Genetic testing revealed a known SDHB germline mutation. The patient remained asymptomatic for eleven months after surgery without relapse.Conclusion: It remains challenging to diagnose pheochromocytoma/PGL (PPGL) promptly because PPGL can present with a variety of symptoms. Although PPGL is a rare disease, especially in children, it should be considered in differential diagnosis when various unexplained symptoms persist.

Case Report: Successful Control of Pulmonary Metastatic Pheochromocytoma With Iodine-125 Seed Implantation

Pheochromocytoma with lung metastases is rare in clinics, and the prognosis of metastatic pheochromocytoma is generally poor. In this case, a 57-year-old woman who presented with hypertension and palpitations was diagnosed with left adrenal pheochromocytoma with lung metastasis in 2010. The patient received left adrenalectomy for pheochromocytoma 10 years ago, but pulmonary lesions had significant progression 7 years ago. The patient was treated with iodine-125 (125I) seed implantation for pulmonary lesions. All of the 5 pulmonary lesions achieved partial response 6 months later, further shrank 1 year later, and were successfully controlled for 7 years. This case indicated that 125I seed implantation could be an alternative local therapy for metastatic pheochromocytoma in the lung.

Hypercalcemia in Pheochromocytoma: From MEN to VHL

Background: Co-occurrence of phaeochromocytoma and primary hyperparathyroidism is usually seen in patients of Multiple Endocrine neoplasia 2A(MEN2A) and is rare in Von Hippel Lindau disease (VHL). Parathyroid adenoma with pheochromocytoma in a genetically confirmed VHL has been reported only once till date (1). Clinical Case: A 30-year male was admitted for evaluation of hypertension and incidentally diagnosed adrenal mass on ultrasound. 9-years back, he was diagnosed as a case of VHL (right renal clear cell carcinoma, pancreatic cystadenoma, spinal hemangioblastoma and epididymal cysts). Right nephrectomy and pancreatic cyst excision had been done and past work-up for pheochromocytoma was normal. He also had been operated twice for recurrent renal calculi. Family history revealed surgery in mother for pancreatic mass. Current imaging revealed right adrenal mass (4.7*4.6 cm) with left renal cysts and calculi, pancreatic cysts and spinal- medullary hemangioblastoma and epididymal cysts. Fundus examination was normal. 24-hours urinary fractionated normetanephrines were elevated (2062 mcg/24 hours) and I131MIBG scan showed 4.7*4.6cm concentrating lesion in right renal fossa suggestive of right adrenal pheochromocytoma. However his biochemical evaluation revealed hypercalcemia (12.1 mg/dl), low phosphorus (3.2 mg/dl), low 25(OH) D (24.84 nmol/l), and raised PTH (121pg/ml). Ultrasound neck and Tc99m-Sestamibi localized left inferior parathyroid adenoma. DEXA scan showed severe osteoporosis. Genetic analysis confirmed VHL mutation in exon-1. Calcitonin and RET mutation were normal (ruled out MEN2A). Therapeutic approach was surgical excision of adrenal pheochromocytoma followed by parathyroidectomy. We report a case of pheochromocytoma with primary hyperparathyroidism (cause: left inferior parathyroid adenoma) in a patient of VHL (Renal clear cell carcinoma, pancreatic cystadenoma, epidydymal cysts and medullary and spinal hemangioblastoma). Hypercalcemia seen in patients of VHL is either due to bone metastasis/PTHrP/IL-6 secretion from RCC or due to PTHrP/PTH/calcitonin secretion from pheochromocytoma and rarely due to associated parathyroid adenoma. Literature search revealed four case reports of parathyroid adenoma with VHL. In only one of these, VHL had pheochromocytoma associated with parathyroid adenoma (1). Conclusion: Ours is the 2nd such case reported in literature of primary hyperparathyroidism in a genetically confirmed case of VHL with pheochromocytoma. This case highlights the overlap of tumorigenesis in two rare genetically divergent syndromes and importance of long-term follow-up for sequential development of new tumors. Reference: Arao T, Okada Yet al. A case of VHL disease with bilateral pheochromocytoma, renal cell carcinoma, pelvic tumor, spinal hemangioblastoma and primary hyperparathyroidism. Endocr J. 2002 Apr;49(2):181–8.