Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0085584 (encephalopathy)
 18,178 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The pheochromocytomas are an important cause of secondary hypertension. Although pheochromocytoma susceptibility may be associated with germline mutations in the tumor-suppressor genes VHL and NF1 and in the proto-oncogene RET, the genetic basis for most cases of nonsyndromic familial pheochromocytoma is unknown. Recently, pheochromocytoma susceptibility has been associated with germline SDHD mutations. Germline SDHD mutations were originally described in hereditary paraganglioma, a dominantly inherited disorder characterized by vascular tumors in the head and the neck, most frequently at the carotid bifurcation. The gene products of two components of succinate dehydrogenase, SDHC and SDHD, anchor the gene products of two other components, SDHA and SDHB, which form the catalytic core, to the inner-mitochondrial membrane. Although mutations in SDHC and in SDHD may cause hereditary paraganglioma, germline SDHA mutations are associated with juvenile encephalopathy, and the phenotypic consequences of SDHB mutations have not been defined. To investigate the genetic causes of pheochromocytoma, we analyzed SDHB and SDHC, in familial and in sporadic cases. Inactivating SDHB mutations were detected in two of the five kindreds with familial pheochromocytoma, two of the three kindreds with pheochromocytoma and paraganglioma susceptibility, and 1 of the 24 cases of sporadic pheochromocytoma. These findings extend the link between mitochondrial dysfunction and tumorigenesis and suggest that germline SDHB mutations are an important cause of pheochromocytoma susceptibility.
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PMID:Gene mutations in the succinate dehydrogenase subunit SDHB cause susceptibility to familial pheochromocytoma and to familial paraganglioma. 1140 20

Background Paraganglioma is a rare neuroendocrine tumour arising anywhere along the paravertebral sympathetic and parasympathetic chains. In the neck, paraganglioma may affect the carotid body (carotid body tumour). Case report We describe a 43-year-old woman who presented with a reversible vasoconstriction syndrome associated with a posterior reversible encephalopathy syndrome following a surgery for a left carotid paraganglioma (with a past medical history of surgery for a right carotid paraganglioma a few months before). Conclusion A consequence of a baroreflex modification is discussed in order to explain the rare occurrence of such symptoms.
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PMID:Posterior reversible encephalopathy syndrome and reversible cerebral vasoconstriction syndrome after bilateral carotid paraganglioma resection: A case report. 2687 58

Posterior reversible encephalopathy syndrome (PRES) is a clinico-radiological syndrome characterized by white matter vasogenic edema affecting the posterior occipital and parietal lobes of the brain predominantly. A 48-year-old female patient presented to ER with complaints of breathlessness and developed sudden painless loss of vision while eliciting history. The patient had a heart rate of 104/min and accelerated hypertension (BP of 220/120 mm of Hg). MRI Brain showed subcortical white matter T2/Fluid-attenuated inversion recovery hyperintensities, suggestive of PRES. The patient regained vision completely over 5 days after nitroglycerin infusion and calcium channel blockers. Beta blocker was started in view of increased BP and anxiety. Blood pressure paradoxically increased from 170/90 mm of Hg to 200/100 mm of Hg. Urine and plasma metanephrines were elevated. Contrast-enhanced computerized tomography abdomen showed locally infiltrative, retroperitoneal mass in left para-aortic prevertebral region diagnosed as paraganglioma. The patient improved with alpha blockers and surgical removal of paraganglioma. 0.1% of hypertensive patients harbor a pheochromocytoma or paraganglioma and its presentation as PRES is very rare.
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PMID:Paradoxical hypertension. 3008 81

Multicentric Castleman disease (MCD) comprises a heterogeneous group of lymphoproliferative disorders. Interleukin 6 (IL-6) plays an important role in the MCD pathophysiology. Here, we report the case of a 17-year-old Japanese man who presented with fever, headache, fatigue, and weight loss, with normal blood pressure. A movable mass was palpated in his lower abdomen. Laboratory tests revealed microcytic anemia and hypoalbuminemia, with elevated IL-6, sIL-2R, and vascular endothelial growth factor. Computed tomography of the abdomen demonstrated a 55-mm-diameter pelvic tumor and enlarged mesenteric lymph nodes. MCD was suspected, and the pelvic tumor resected. After the operation, his blood pressure rose slowly, and resulted to seizures of posterior reversible encephalopathy syndrome. Evaluation of hypertension revealed that plasma norepinephrine and normetanephrine concentrations were elevated, and pathological examinations showed that the resected tumor was positive for IL-6 and chromogranin-A. Therefore, we diagnosed the patient with IL-6-producing paraganglioma with MCD-mimicking symptoms. Moreover, IL-6-producing pheochromocytoma and paraganglioma should be included in differential diagnoses of MCD, even in normotensive patients.
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PMID:[Interleukin-6-producing paraganglioma mimicking multicentric Castleman disease]. 3329 54