Carotid Body Tumors in Humans Caused by a Mutation in the Gene for Succinate Dehydrogenase D (SDHD)

2004 ◽  
pp. 71-76 ◽  
Author(s):  
Albert Dahan ◽  
Peter E. M. Taschner ◽  
Jeroen C. Jansen ◽  
Andel van der Mey ◽  
Luc J. Teppema ◽  
...  
Keyword(s):  
Succinate Dehydrogenase ◽  
Carotid Body ◽  
Carotid Body Tumors

Carotid Body Tumors

2017 ◽  
Author(s):  
Audra A Duncan
Keyword(s):  
Succinate Dehydrogenase ◽  
Nerve Injury ◽  
Carotid Body ◽  
Stroke Risk ◽  
Nasotracheal Intubation ◽  
Cranial Nerves ◽  
Autonomic Nerve ◽  
Type I ◽  
Tumor Embolization ◽  
Carotid Body Tumors

Carotid body tumors (CBTs) are derived from parasympathetic autonomic nervous system cells and are the most common type of head and neck paragangliomas, accounting for 65-80% of lesions.  CBTs may occur sporadically, may be familial with identified gene mutations on the succinate dehydrogenase subunit, or a component of familial neuroendocrine syndromes.  Environments or medical conditions leading to chronic hypoxia can increase the risk of CBTs.  The differential diagnosis of CBT include other neck masses such as enlarged lymph nodes or other neck tumors.  Computed tomography or magnetic resonance angiography is often diagnostic as CBTs cause a characteristic splaying of the carotid bifurcation.  The degree of encasement of the carotid arteries is classified by Shamblin Type I-III, and the higher Shamblin category correlates to highest risk of nerve injury after surgical resection.  All tumors should be removed in healthy patients, with observation or radiotherapy reserved for high-risk or elderly asymptomatic patients.  Tumor embolization may be considered in CBTs larger than 4cm.  Resection, with or without tumor embolization, requires adequate exposure of the distal carotid with consideration of nasotracheal intubation or mandibular subluxation.  The surgeon must be prepared to resect and replace the carotid artery in large CBTs using techniques similar to carotid endarterectomy to reduce stroke risk.   Cranial nerves should be carefully exposed and preserved during a systematic dissection.  Despite careful resection, cranial nerve injury may be as high as 30-40%, although only 5% are permanent.  Stroke risk (1%) and mortality (<1%) are low. KEY WORDS: Carotid body tumor, succinate dehydrogenase, Shamblin Type, neuroendocrine tumors, parasympathetic autonomic nerve cells, tumor embolization

Presentation with Personality changes and Tinnitus to a Vascular Intervention: Rare case of Carotid Body Paraganglioma

2018 ◽  
pp. e000109
Author(s):  
Ahsan Zil-E-Ali ◽  
Zubair Ahmed ◽  
Amber Ehsan Faquih ◽  
Muhammad Ishaq ◽  
Muhammad Aadil
Keyword(s):  
Case Report ◽  
Carotid Body ◽  
Neuroendocrine Neoplasms ◽  
Vascular Surgeon ◽  
Vascular Intervention ◽  
Presenting Symptoms ◽  
Personality Changes ◽  
Tender Mass ◽  
Carotid Body Tumors ◽  
General Physical

Background: Carotid body paragangliomas are rare neuroendocrine neoplasms of chromaffin negative glomus cells. This case report explains an atypical case with unusual presentation and treatment. Case Report: A healthy smoker technician by profession was brought to the emergency room (ER) with coprolalia. The general physical exam did not reveal any information. His history revealed unilateral tinnitus and odynophagia leading to a consultation by the neurologist with head imaging. Acoustic neuroma was ruled out and the caregiver was asked to elaborate the events mentioned in the history and a psychiatric examination was done. The personality changes were evaluated by the psychiatrist that showed overlapping of delirium and depression. The patient was further examined by a vascular surgeon. After careful revisiting of the history, examination and indication of tender mass in the neck by the patient's vascular surgeon, the diagnosis of carotid body paraganglioma was made which was followed by surgical resection for treatment. Conclusion: Carotid Body Paragangliomas are very vascular structures and their manipulation in a surgery setting requires expertise. This case presented with personality changes and tinnitus, a very less likely event to occur in a carotid body tumor. The present care report, thus adds on to the literature of carotid body tumors and its presenting symptoms.

scholarly journals A Family With a Carotid Body Paraganglioma and Thyroid Neoplasias With a New SDHAF2 Germline Variant

2019 ◽  
Vol 3 (11) ◽  
pp. 2151-2157
Author(s):  
Katherine I Wolf ◽  
Michelle F Jacobs ◽  
Rohit Mehra ◽  
Priya Begani ◽  
Matthew S Davenport ◽  
...  
Keyword(s):  
Succinate Dehydrogenase ◽  
Carotid Body ◽  
Follicular Adenoma ◽  
Needle Aspiration ◽  
Neck Mass ◽  
Whole Body ◽  
Whole Body Mri ◽  
Pathogenic Variants ◽  
Assembly Factor ◽  
Associated Tumors

Abstract At least 30% of all pheochromocytomas (PCCs)/paragangliomas (PGLs) arise in patients with a germline predisposition syndrome. Variants in succinate dehydrogenase subunits A, B, C, and D (SDHA, SDHB, SDHC, and SDHD) are the most common pathogenic germline alterations. Few pathogenic variants have been reported in succinate dehydrogenase assembly factor 2 (SDHAF2). Here, we describe a 30-year-old female patient who presented with a left-sided neck mass, which was later characterized as a carotid body PGL. Genetic testing revealed a likely pathogenic SDHAF2 variant (c.347G>A;p.W116X). Two sisters carried the same pathologic variant, and screening protocols were recommended. Whole-body MRI revealed thyroid nodules; this testing was followed by fine-needle aspiration, which confirmed papillary thyroid carcinoma in one sister and a follicular adenoma in the other. The two sisters then underwent hemithyroidectomy and total thyroidectomy, respectively. Because evidence for pathogenic variants in SDHAF2 causing predisposition to PCC/PGL is limited, we discuss the challenges in mutational variant interpretation and decision making regarding screening for associated tumors.

scholarly journals Carotid body tumors: 13 years experience

2014 ◽  
Vol 24 (2) ◽  
pp. 217-222
Author(s):  
Yukie Koike ◽  
Hirotaka Shinomiya ◽  
Naoki Otsuki ◽  
Kenichi Nibu
Keyword(s):  
Carotid Body ◽  
Carotid Body Tumors

Carotid body tumors

1938 ◽  
Vol 40 (2) ◽  
pp. 462-469 ◽  
Author(s):  
H.K. Shawan ◽  
C.I. Owen
Keyword(s):  
Carotid Body ◽  
Carotid Body Tumors
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