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Query: UMLS:C0018681 (headache)
 56,091 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Cystic adrenal lesions are common, but cystic pheochromocytomas are rare. In the setting of a cystic adrenal mass in a patient with multiple endocrine neoplasia syndrome (MEN) IIB, the diagnosis of pheochromocytoma must be considered. We report a 29-year-old woman with typical phenotype of MEN IIB (marfanoid habitus, thick blubbery lips, mucosal ganglioneuromas) and a history of medullary thyroid carcinoma. She presented with headaches, palpitations and tremors. Computed tomography revealed a left cystic adrenal mass. The likelihood of the lesion being a pheochromocytoma was thought to be low due to its cystic appearance. However, urine ephinephrine and metanephrine levels were elevated. She underwent a left adrenalectomy and histological examination revealed a cystic pheochromocytoma.
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PMID:The significance of cystic adrenal lesions in multiple endocrine neoplasia IIB syndrome. 1545 72

We report the case of a patient presenting amenorrhea, hyperprolactinemia, headache and nuclear magnetic resonance (NMR) evidence of pituitary macroadenoma. The family history revealed that the patient's father had had a referred sporadic insulinoma, removed 25 yr before without evidence of other endocrine disorders. Physical examination evidenced a slight neck enlargement. Among biochemical and endocrinological assays performed, only hyperprolactinemia was observed. Neck ultrasonography (US) revealed a parathyroid enlargement and a 99mTcO4/MIBI scan showed two hyperplasic lesions. Considering the diagnostic suspect of multiple endocrine neoplasia (MEN1), we performed abdominal US and NMR studies, showing a pancreatic lesion compatible with neuroendocrine tumor. A total body 111In-DTPA-d-Phe1 -octreotide scan (Octreoscan) was also carried out, evidencing no pituitary tumor uptake but high uptake of the abdominal lesion. After surgery, the histological examination confirmed the two parathyroid adenomas and four non-functioning pancreatic neuroendocrine tumors. When the patient was admitted for studying the pituitary lesion and for planning the opportune therapy, an early and partially subclinical stage of MEN1 was identified, potentially already clear but otherwise undiagnosed, and the genetic state of the patient's relatives, as possible carriers of DNA mutation, was checked. The DNA study for germline mutations confirmed the clinical diagnosis of MEN1 syndrome in the patient and evidenced the same MEN1 mutation in her father and twin sister. In this case report, we would like to underline that, still today, a correct anamnesis and physical examination are the cornerstone of clinical approach to the patient. Furthermore, initial good practice approach is necessary to plan the diagnostic iter, enabling clinicians to decide upon the best orientation and interpretation of the results among several complicated and expensive exams.
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PMID:The early diagnosis of multiple endocrine neoplasia type 1 (MEN 1): a case report. 1564 55

Pheochromocytomas (pheo) cause the most dramatic, life-threatening crises in all of endocrinology. A proper screening for pheo must be performed in any patient who has: 1) episodic headaches, tachycardia, and diaphoresis; 2) family history of pheo or multiple endocrine neoplasia; 3) incidental suprarenal mass; 4) paroxysms of tachyarrhythmias or hypertension; 5) adverse cardiovascular responses to anesthetic agents, histamine, phenothiazine, tricyclic antidepressants, etc); and 6) spells occurring during exercise, straining, etc. The key to diagnosing pheo is to suspect it, then to confirm it. Early recognition of its presence is critical to avoiding significant morbidity and mortality. Once suspected, the diagnosis can be confirmed with biochemical testing in virtually all patients. The combination of resting plasma catecholamines > or =2000 pg/mL and urinary metanephrines > or =1.8 mg/24 h has a diagnostic accuracy of 98% in both sporadic and hereditary pheos. When available, measurement of plasma free metanephrines should be performed especially in hereditary pheos. Provocative (glucagon) and suppression tests (clonidine) may be necessary when baseline measurements are inconclusive. CT and MRI are equally sensitive for localization (98% and 100%, respectively), but have lower specificities (70% and 67%). MIBG is 100% specific, but less sensitive (78%). The availability of various medical (selective alpha-1- and beta-adrenergic receptor antagonists, calcium channel blockers) and surgical modalities have made successful management more promising than ever before.
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PMID:Pheochromocytoma: current perspectives in the pathogenesis, diagnosis, and management. 1576 46

Phaeochromocytomas are rare neuroendocrine tumours with a highly variable clinical presentation but most commonly presenting with episodes of headaches, sweating, palpitations, and hypertension. The serious and potentially lethal cardiovascular complications of these tumours are due to the potent effects of secreted catecholamines. Biochemical testing for phaeochromocytoma is indicated not only in symptomatic patients, but also in patients with adrenal incidentalomas or identified genetic predispositions (eg, multiple endocrine neoplasia type 2, von Hippel-Lindau syndrome, neurofibromatosis type 1, and mutations of the succinate dehydrogenase genes). Imaging techniques such as CT or MRI and functional ligands such as (123)I-MIBG are used to localise biochemically proven tumours. After the use of appropriate preoperative treatment to block the effects of secreted catecholamines, laparoscopic tumour removal is the preferred procedure. If removal of phaeochromocytoma is timely, prognosis is excellent. However, prognosis is poor in patients with metastases, which especially occur in patients with large, extra-adrenal tumours.
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PMID:Phaeochromocytoma. 1611 4

The diagnosis and surgical management of insulinomas associated with multiple endocrine neoplasia type 1 (MEN1) pose additional problems in children because of the long-term risk of recurrence of other pancreatic and non-pancreatic tumors. We report a diagnostic confirmation by laparoscopic ultrasound of an insulinoma and its successful removal by laparoscopic enucleation in an 8- year-old boy who was admitted to our hospital with a history of recurrent episodes of absences, headache, and visual and auditive disturbances diagnosed as hyperinsulinism-related hypoglycemia. Magnetic resonance imaging of the pancreas showed a small contrast-enhancing lesion in the body of the pancreas, suspected for insulinoma. MEN1 was genetically proven by direct DNA testing. A pancreatic tumor can arise before the age of 10 in patients with MEN1 and can be surgically treated by a laparoscopical approach.
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PMID:Laparoscopic management of insulinoma in a child with multiple endocrine neoplasia type 1. 1679 55

Pheochromocytoma (Pheo) is a rare cause of hypertension (HTN). Classically, a triad of symptoms includes sweating, palpitations, and headache. HTN is often present and labile. Although a triad of symptoms is cited as the most frequent presenting complaints, our clinical experience leads us to question how often these are present. Thirty-two patients with histologically proven pheo or paraganglionoma were evaluated. Around 84.4% patients had adrenal pheos and 15.6% had extra-adrenal pheos. Two patients had bilateral adrenal tumors, two had a history of prior pheos, and four had a family history of pheo. There were 19 (59.4%) female and 13 (40.6%) male patients. Six (18.7%) patients were black and 26 (81.3%) were white. The mean age at presentation was 43.2+/-13.9 years. Two patients were known to have neurofibromatosis type 1, two had von Hippel-Lindau disease, one had multiple endocrine neoplasia 2A, and one PGL/SDHD genetic mutation. Twenty-six patients had sporadic tumors or had not had genetic testing. Biochemical diagnosis was confirmed with 24-h urine measurements. Urine catecholamine measurements were elevated at least 2 to 4 times above normal levels. Mean SBP readings at presentation were 128+/-19 mmHg. Mean DBP readings were 81+/-13 mmHg. Around 65.6% patients were hypertensive at presentation. Fifty percent of the patients had palpitations, 40.6% had tachycardia, 34.4% had sweating, and 31.3% had headaches. Initial presenting symptoms were diverse. Pheo is a rare clinical entity and remains a huge diagnostic challenge for all clinicians.
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PMID:Lack of symptoms in patients with histologic evidence of pheochromocytoma: a diagnostic challenge. 1710 71

Catecholamine-producing tumors may arise in the adrenal medulla (pheochromocytomas) or in extraadrenal chromaffin cells (secreting paragangliomas). Their prevalence is about 0.1% in patients with hypertension and 4% in patients with a fortuitously discovered adrenal mass. An increase in the production of catecholamines causes symptoms (mainly headaches, palpitations and excess sweating) and signs (mainly hypertension, weight loss and diabetes) reflecting the effects of epinephrine and norepinephrine on alpha- and beta-adrenergic receptors. Catecholamine-producing tumors mimic paroxysmal conditions with hypertension and/or cardiac rhythm disorders, including panic attacks, in which sympathetic activation linked to anxiety reproduces the same signs and symptoms. These tumors may be sporadic or part of any of several genetic diseases: familial pheochromocytoma-paraganglioma syndromes, multiple endocrine neoplasia type 2, neurofibromatosis 1 and von Hippel-Lindau disease. Familial cases are diagnosed earlier and are more frequently bilateral and recurring than sporadic cases. The most specific and sensitive diagnostic test for the tumor is the determination of plasma or urinary metanephrines. The tumor can be located by computed tomography, magnetic resonance imaging and metaiodobenzylguanidine scintigraphy. Treatment requires resection of the tumor, generally by laparoscopic surgery. About 10% of tumors are malignant either at first operation or during follow-up, malignancy being diagnosed by the presence of lymph node, visceral or bone metastases. Recurrences and malignancy are more frequent in cases with large or extraadrenal tumors. Patients, especially those with familial or extraadrenal tumors, should be followed-up indefinitely.
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PMID:Pheochromocytomas and secreting paragangliomas. 1715 52

Pheochromocytomas are catecholamine-producing tumors presenting with various clinical symptoms, but mostly with headache, sweating, palpitations and hypertension. If not properly diagnosed, secretion of catecholamines may lead to fatal cardiovascular consequences. Biochemical testing for pheochromocytoma should be performed not only in symptomatic subjects or in subjects with adrenal incidentaloma but also in subjects with a genetic predisposition for pheochromocytoma (multiple endocrine neoplasia type 2, Von Hippel-Lindau (VHL) syndrome, neurofibromatosis type 1 (NF 1)and mutations of succinate dehydrogenase (SDH) genes). Once a pheochromocytoma is proven, computed tomography (CT), magnetic resonance imaging (MRI) and functional imaging with [(123)I]-MIBG may be used for tumor localization. Adequate medical pre-treatment is essential for successful operation which is performed in most cases by laparoscopy. After tumor removal, further follow-up is necessary due to possible recurrence. Although prognosis after tumor resection is excellent, a significant proportion of pheochromocytomas recur, some as metastases. Thus, appropriate follow-up is mandatory.
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PMID:Pheochromocytoma as a catecholamine producing tumor: implications for clinical practice. 1751 88

Paragangliomas are tumors arising from sympathetic and parasympathetic tissues. The classic associated syndromes are neurofibromatosis type 1, multiple endocrine neoplasia type 2 and von Hippel-Lindau. Germline mutations of succinate dehydrogenase subunits genes, are associated with familial paraganglioma syndromes 1,2,3 and 4. We report a 29-year-old woman with a family background of pheochromocytoma and history of paroxysmal headache, nausea, sweating, palpitations, associated with severe hypertension. The patient had elevated plasma noradrenalin and urinary normetanephrines. Imaging studies revealed three retroperitoneal extra-adrenal masses. The clinical and laboratory study of classic syndromes associated with paraganglioma was negative. The patient was operated and the pathological study of the surgical specimen was consistent with paragangliomas. The genetic study showed a mutation in the SDHB succinate dehydrogenase gen, Exon 2 of CCTCA c.300_304 (p.P56delYfsX5).
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PMID:[Multiple paragangliomas associated to a SDHB gene mutation: report of one case]. 2244 54

Pheochromocytomas and paragangliomas are tumors arising from chromaffin cells. These tumors produce catecholamines and are typically found with symptoms and signs that may include hypertension (persistent or episodic), palpitations, headache and sweating. So far, 10 different genes have been associated with both tumors and other genes are expected to be detected. Pheochromocytoma and paraganglioma can occur as a part of genetic syndromes - familial paragangliomas (SDH genes, SDHAF2 gene), von Hippel-Lindau syndrome (VHL gene), multiple endocrine neoplasia type 2 (RET gene), and neurofibromatosis type 1 (NF1 gene). These tumors may be the first and only manifestation of these genetic syndromes. Patients with SDHB mutations are at high risk to develop malignant disease and unfortunately current therapeutic options for malignant form of disease are poor. Genetic testing plays a key role in the management of these tumors and therefore not only index patients with pheochromocytoma but also relatives should be tested. Management of this disease requires multidisciplinary cooperation and should be performed in the specialized medical centres.
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PMID:[Hereditary pheochromocytoma and paraganglioma]. 2292 Feb 2


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