scholarly journals Anaesthetic Management for Laparascopic Adrenalectomy for Pheochromocytoma as Part of Vonn Hippel-Lindau Syndrome in Child

2021 ◽  
Vol 4 (2) ◽  
Keyword(s):  
Blood Pressure ◽  
Perioperative Management ◽  
Multiple Endocrine Neoplasia Type ◽  
Anaesthetic Management ◽  
Urinary Catecholamine ◽  
Excessive Sweating ◽  
Von Hippel Lindau ◽  
Adrenergic Blocker ◽  
Hereditary Tumors ◽  
Von Hippel Lindau Syndrome

Pheochromocytoma is a tumor that originates from either chromaffincells in adrenal medulla or in other paraganglia tissues (paragangliomas) of the sympathetic nervous system. It might be familial and associated with hereditary tumors such as Von Hippel-Lindau syndrome and multiple endocrine neoplasia type II. The symptoms are variable related to the level of secreted catecholamine. The most common are hypertension, tachycardia, headache and abdominal pain. The most effective treatment is surgical resection as in recent years, laparoscopic surgery has been more preferred. The perioperative management is quite challenging especially in view of hemodynamic fluctuations. Although there is a considerable amount of information on the management of the adult with phaeochromocytoma, much less has been written concerning children with the disease. We present a case of 9-year-old hypertensive boy with left sided pheochromocytoma, scheduled for excision of tumour. He had presented with complaints of pain in abdomen, excessive sweating, headache and raised blood pressure, as well as family anamnesis for von Hippel-Lindau syndrome (father with confirmed diagnosis). Diagnosis was confirmed by CT scan (abdomen), raised 24-hour urinary catecholamine levels and genetics tests. Preoperative blood pressure was controlled with prazosin (ά-adrenergic blocker). The anaesthetic technique used was general anaesthesia. Child was later discharged on oral antihypertensive.

scholarly journals Proteomic profiling of von Hippel–Lindau syndrome and multiple endocrine neoplasia type 2 pheochromocytomas reveals different expression of chromogranin B

2007 ◽  
Vol 14 (2) ◽  
pp. 463-471 ◽  
Author(s):  
Frederieke M Brouwers ◽  
Sven Gläsker ◽  
Amanda F Nave ◽  
Alexander O Vortmeyer ◽  
Irina Lubensky ◽  
...  
Keyword(s):  
Multiple Endocrine Neoplasia ◽  
Multiple Endocrine Neoplasia Type ◽  
Differentially Expressed ◽  
Differentially Expressed Proteins ◽  
Proteomic Profiling ◽  
Chromogranin B ◽  
Von Hippel Lindau ◽  
Endocrine Neoplasia ◽  
Von Hippel Lindau Syndrome

Pheochromocytomas are catecholamine-producing tumors that can occur in the context of von Hippel–Lindau syndrome (VHL) and multiple endocrine neoplasia type 2 (MEN2). Pheochromocytomas in these two syndromes differ in histopathological features, catecholamine metabolism, and clinical phenotype. To further investigate the nature of these differences, we compared the global protein expressions of 8 MEN2A-associated pheochromocytomas with 11 VHL-associated pheochromocytomas by two-dimensional gel electrophoresis proteomic profiling followed by sequencing and identification of differentially expressed proteins. Although both types of pheochromocytoma shared similarities in their protein expression patterns, the expression of several proteins was distinctly different between VHL- and MEN2A-associated pheochromocytomas. We identified several of these differentially expressed proteins. One of the proteins with higher expression in MEN2-associated tumors was chromogranin B, of which the differential expression was confirmed by western blot analysis. Our results expand the evidence for proteomic differences between these two tumor entities, and suggest that VHL-associated pheochromocytomas may be deficient in fundamental machinery for catecholamine storage. In light of these new findings, as well as existing evidence for differences between both types of pheochromocytomas, we propose that these tumors may have different developmental origins.

scholarly journals Functioning Thoracic Paraganglioma: Association with Von Hippel-Lindau Syndrome*

1997 ◽  
Vol 82 (10) ◽  
pp. 3356-3360
Author(s):  
Bernhard U. Bender ◽  
Carsten Altehöfer ◽  
Andrzej Januszewicz ◽  
Roland Gärtner ◽  
Heinrich Schmidt ◽  
...  
Keyword(s):  
Multiple Endocrine Neoplasia ◽  
Multiple Endocrine Neoplasia Type ◽  
Germline Mutations ◽  
Von Hippel Lindau ◽  
Men 2 ◽  
Associated Lesions ◽  
Adrenal Pheochromocytoma ◽  
Von Hippel Lindau Disease ◽  
Von Hippel Lindau Syndrome

Abstract Functioning thoracic paraganglioma (pheochromocytoma) is unusual and therefore suggestive of a pathogenesis distinct from that of sporadic adrenal pheochromocytoma. To determine whether the pheochromocytoma-associated syndromes Von Hippel-Lindau disease (VHL) and multiple endocrine neoplasia type 2 (MEN 2) play a role in the development of thoracic functioning paragangliomas, germline DNA from five unselected patients with this rare tumor was analyzed for mutations in the genes that predispose to VHL and MEN 2. Genetic investigations and further clinical data revealed that three had VHL, with two different germline mutations of the vhl gene, but no individual was affected by MEN 2. Two of the three patients with VHL did not show any additional VHL-associated lesions. This result suggests that VHL should be considered in the differential diagnosis of thoracic pheochromocytoma, as such a diagnosis carries further important implications for the patient and family. Conversely, in patients suspected of a catecholamine-secreting tumor and known VHL, thoracic localization should be considered if an adrenal pheochromocytoma cannot be detected.

scholarly journals Genetics of neuroendocrine tumours, hereditary tumour syndromes

2013 ◽  
Vol 154 (39) ◽  
pp. 1541-1548 ◽  
Author(s):  
Péter Igaz
Keyword(s):  
Neuroendocrine Tumours ◽  
Autosomal Dominant ◽  
Multiple Endocrine Neoplasia Type ◽  
Neurofibromatosis Type ◽  
Pathophysiological Mechanisms ◽  
Von Hippel Lindau ◽  
Mapk Signalling ◽  
Von Hippel Lindau Syndrome ◽  
Mtor Signalling

Neuroendocrine tumours occur in some hereditary tumour syndromes, and the molecular pathophysiological mechanisms involved in these are also important in their sporadic counterparts which representing the majority of neuroendocrine tumours. These syndromes include multiple endocrine neoplasia type 1, von Hippel–Lindau syndrome, neurofibromatosis type 1 and tuberous sclerosis. All these follow an autosomal dominant inheritance. The primarily affected molecular pathways are Ras-MAPK signalling, hypoxia induced factor 1α, and mTOR signalling that are also involved in sporadic tumours and may even represent potential molecular targets of therapy. In this review, the major characteristics of hereditary tumour syndromes, their molecular genetics and the pathophysiological mechanisms involved in sporadic tumours are discussed. Orv. Hetil., 2013, 154, 1541–1548.

Von Hippel-Lindau syndrome: in vivo portrait with 68Ga-DOTANOC PET-CT

2017 ◽  
Author(s):  
Moreira Ana Paula ◽  
Gracinda Costa ◽  
de Lima Joao Pedroso
Keyword(s):  
Von Hippel Lindau ◽  
Pet Ct ◽  
Von Hippel Lindau Syndrome
Sign in / Sign up

Export Citation Format

Share Document