Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0018681 (headache)
 56,091 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 42-year old woman presented with headache, palpitation and facial flushing. Ultrasonograms and computed tomograms revealed tumors in both of the adrenal glands, anterior aspect of the inferior vena cava, and the right lobe of the thyroid gland. Fine needle aspiration biopsy of the thyroid nodule revealed papillary thyroid carcinoma. Serum calcitonin, CEA, intact PTH and calcium levels were within normal limits. Markedly elevated levels of urinary normetanephrine and vanillylmandelic acid, and the result of 131I-metaiodobenzylguanidine (131I-MIBG) scintigraphy indicated that both adrenal masses were pheochromocytoma. Bilateral adrenalectomy, paracaval mass removal and total thyroidectomy together with central lymph node dissection were performed. The final pathological diagnosis was bilateral adrenal pheochromocytoma, paraganglioma, papillary thyroid carcinoma and either parathyroid adenoma or hyperplasia. Analysis of the RET proto-oncogene mutation, von Hippel Lindau mutation, succinate dehydrogenase subunit B mutation, and succinate dehydrogenase subunit D mutation yielded negative results. The relationship of these lesions could not be determined. This is the first report of a combination of bilateral pheochromocytoma, abdominal paraganglioma, papillary thyroid carcinoma and either parathyroid adenoma or hyperplasia without hyperparathyroidism.
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PMID:Bilateral pheochromocytoma associated with paraganglioma and papillary thyroid carcinoma: report of an unusual case. 1726 67

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

Phaeochromocytoma is a rare catecholamine-secreting tumour that may arise at any age, but is particularly unusual in childhood. The case of a 6-year-old girl who presented with a prolonged history of general malaise, headaches and abdominal pain is reported. On examination, she was noted to have malignant hypertension. Subsequent imaging of the abdomen demonstrated a left adrenal mass, with the diagnosis of phaeochromocytoma being confirmed by serial raised urinary metanephrines. Sympathetic blockade was established prior to definitive surgical treatment, resulting in complete resolution of the patient's symptoms and hypertension. Genetic screening of the family has since identified a previously undocumented missense mutation in the patient's VHL gene. The case raises the importance of routine measurement of blood pressure in all paediatric patients regardless of age, presentation or other factors.
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PMID:Diagnosis at dusk: malignant hypertension and phaeochromocytoma in a 6-year-old girl. 1825 29

Adrenal pheochromocytomas are rare catecholamine-secreting tumors that originate from chromaffin cells in the adrenal medulla, and giant pheochromocytomas with cystic changes are particularly rare. We report a case of a 46-year-old man who presented with episodic hypertension and headache. Radiographic studies showed an 18-cm cystic mass in the left upper quadrant of the abdomen; further workups, which included light microscopy, immunohistochemical, and electron microscopic analysis, revealed a pheochromocytoma of the left adrenal gland. Cytogenetic analysis and genetic mutation analyses for von-Hippel-Lindau (VHL), rearranged during transfection (RET), and succinate dehydrogenase complex subunit B (SDHB) genes were also performed but failed to reveal any abnormalities within the tumor cells.
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PMID:A giant cystic pheochromocytoma of the adrenal gland. 1832 57

We report on a 34-year-old woman, who was recently diagnosed with Von Hippel-Lindau disease (VHL), genetically confirmed. At this moment, she presented with an acute history of arterial hypertension, headache, cortical blindness and epilepsy. On the basis of clinical and magnetic resonance imaging (MRI) criteria the diagnosis of a posterior reversible encephalopathy syndrome (PRES) was made. A iodine 123-Labeled metaiodobenzylguanidine (MIBG) scan revealed the presence of bilateral adrenal pheochromocytomas.
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PMID:Posterior reversible encephalopathy syndrome: a rare neurological manifestation in Von Hippel-Lindau disease. 2095 70

An 18-year-old woman with a 2-year history of hypertension and headache was diagnosed with noradrenalin-secreting bilateral adrenal pheochromocytomas with paragangliomas in the background of von Hippel-Lindau disease with family histories and a missense mutation, 712C to T (Arg167Trp) in the VHL gene. She had optic disc hemangioma in the left eye which gradually enlarged and caused serous retinal detachment on the macula in one year. Low-dose external beam radiation (20 Gy) was administered to the left eye using a lens-sparing single lateral technique. She underwent craniotomy for cerebellar hemangioblastoma at the age of 22 years and total pancreatectomy for multiple neuroendocrine tumors at the age of 24 years. In the 6-year follow-up period after the radiotherapy, the optic disc hemangioma gradually reduced in size and its activity remained low, allowing good central vision to be maintained. External beam radiation is recommended as a treatment option for the initial therapy for optic disc hemangioma.
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PMID:Long-term effect of external beam radiotherapy of optic disc hemangioma in a patient with von Hippel-Lindau disease. 2151 72

Von Hippel-Lindau disease is a rare genetic disorder characterized by various tumours and cysts in the central nervous system and other viscera. Here a case was described in a young female who was pregnant at the time of initial presentation with the complaints of occasional headache, low back pain and pain in the upper abdomen. After the birth of a healthy baby she was admitted to the hospital and the CT scan of upper abdomen suggested a multiloculated pancreatic cyst. MRI of thoracolumbar spine revealed an intracanalicular extradural mass and CT scan of brain revealed a cerebellar cystic mass. The spinal and cerebellar masses both were diagnosed histologically as haemangioblastoma. After a month she underwent laparotomy with near total pancreatectomy. Microscopically it was a microcystic cystadenoma. Based on the clinical presentation, imaging and histopathology of spinal, cerebellar and pancreatic lesions as well as a family history of her father's death due to brain tumour the final diagnosis was Von Hippel-Lindau disease.
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PMID:Von Hippel-Lindau disease in a pregnant lady. 2231 80

A 33-year-old male presented with a headache. He had a history of a previous surgical procedure for excisions of cervical spine hemangioblastomas 13 years prior He had a family history of von-Hippel Lindau (VHL) disease, and a VHL mutation was identified. Brain magnetic resonance imaging showed enhanced mass lesions in both the third and right lateral ventricles as well as in the cerebellum. The lesion in the right lateral ventricle also had a cystic component. Two-staged resections of the tumors in the third and right lateral ventricles and ventriculo-peritoneal shunt were performed. A histopathological specimen was compatible with a hemangioblastoma. Supratentorial intraventricular hemangioblastomas are extremely rare. We reviewed the literature and discussed the features.
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PMID:Supratentorial intraventricular hemangioblastomas. 2236 81

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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