scholarly journals MON-249 SDHD Mutation: Nonfunctional Paragangliomas Presenting as Bilateral Carotid Body Tumors with Syncope

2020 ◽  
Vol 4 (Supplement_1) ◽  
Author(s):  
David LaChance ◽  
Thanh Duc Hoang ◽  
Mohamed K M Shakir
Keyword(s):  
Family History ◽  
Head And Neck ◽  
Carotid Body ◽  
Case Reports ◽  
Neck Region ◽  
Carotid Body Tumor ◽  
Sdhd Mutation ◽  
Bilateral Carotid ◽  
History Of ◽  
Carotid Body Tumors

Abstract SDHD Mutation: Nonfunctional paragangliomas presenting as bilateral carotid body tumors with syncope Background: A mutation of the SDHD gene is associated with hereditary paraganglioma-pheochromocytoma (PGL/PCC) syndromes which most commonly originate in the head and neck region, and usually form in the carotid body. Paragangliomas (PGL) can be secretory or non-secretory with about 95% of head and neck PGL being non-secretory. They can rarely present with symptoms due to compression, however, as in this case of a 29 year-old female presenting with syncope. Clinical Case: A 29 year-old female presented for evaluation after syncope. She had a syncopal event and fell down while walking in her home. Syncope was preceded by about 15 minutes of flushing, nausea and palpitations. She reported similar episodes once weekly in the preceding months, which generally lasted an hour. Initial workup included normal vital signs at presentation, normal ECG and echocardiogram, normal TFT, CBC, complete metabolic panel. Subsequent head/neck CT revealed bilateral masses in the carotid bifurcations consistent with carotid body tumors. Further history revealed a family history of bilateral carotid body tumors in her father which had never been evaluated. Plasma and urine metanephrines were normal. She underwent carotid body tumor excision. The left carotid body tumor was successfully excised and pathology revealed a paraganglioma with positive synaptophysin and chromogranin stains. Genetic testing revealed an SDHD (succinate dehydrogenase complex subunit D) gene mutation. Repeat biochemical assessment 4 months later was again negative and patient remained asymptomatic postoperatively. Conclusion: Paragangliomas can be secretory or non-secretory with about 95% of head and neck paragangliomas being non-secretory, as in this case. Symptoms can arise from catecholamine hypersecretion, which generally presents as hypertension, headaches, diaphoresis, flushing, anxiety or palpitations, and can be episodic or sustained, or mass effect. Syncope as a presenting symptom is rare, however, and has not been quantified but only reported in case reports. The exact etiology of syncope in our patient is not clear. Hereditary PGL/PCC syndromes should be suspected in any individual with multiple, recurrent, early-onset (age less than 45 years) or family history of PGL/PCC, as these syndromes are inherited in an autosomal dominant manner.

scholarly journals Malignant carotid body tumor presenting with myelopathy: case report

2016 ◽  
Vol 24 (4) ◽  
pp. 660-663 ◽  
Author(s):  
Dhruve S. Jeevan ◽  
Mohamed Saleh ◽  
Michael LaBagnara ◽  
Jayson A. Neil ◽  
Virany H. Hillard
Keyword(s):  
Carotid Body ◽  
Case Reports ◽  
Management Strategies ◽  
Carotid Body Tumor ◽  
Vertebral Metastases ◽  
Vertebral Metastasis ◽  
Rare Presentation ◽  
Regional Lymph Nodes ◽  
Carotid Body Tumors ◽  
Management Challenge

Malignant carotid body tumors are rare, with spread of the tumor mostly noted in regional lymph nodes. Vertebral metastases are an exceedingly rare presentation, only reported in isolated case reports, and present a diagnostic and management challenge. A case of widespread vertebral metastasis, presenting with myelopathy, from a carotid body tumor is discussed in this paper, along with management strategies.

scholarly journals Diagnostic Dilemma in a Carotid Body Tumor: A Case Report

2021 ◽  
Vol 6 (2) ◽  
Author(s):  
Md Ashraful Islam
Keyword(s):  
Carotid Body ◽  
Histopathological Examination ◽  
Neck Region ◽  
Carotid Body Tumor ◽  
Lateral Neck ◽  
Neck Swelling ◽  
Diagnostic Dilemma ◽  
Carotid Body Tumors ◽  
Carotid Bulb ◽  
Lateral Neck Swelling

An asymptomatic swelling in the neck region has many differential diagnoses. Most common of them is reactive lymphadenitis and carotid body tumor being the last thing. We present here a case of carotid body tumor that misguided us on clinical and radiological ground. It was suspected intra-operatively and confirmed by histopathological examination. Carotid body tumors are rare neoplasm. It arises from the chemoreceptor cells of the carotid bulb. We report a case of carotid body tumor in a 57-year-old female, who presented with painless, gradually progressive lateral neck swelling. The diagnosis is suspected on the basis of clinical radiological and per-operative examination findings. Histopathological examination confirms the diagnosis of carotid body tumor

scholarly journals Leiomyosarcoma of the Tracheostomy Site in a Patient with History of Laryngeal Squamous Cell Carcinoma

2021 ◽  
pp. 912-917
Author(s):  
Zainub Ajmal ◽  
Abdul Moiz Khan ◽  
Lezah McCarthy ◽  
Allison Lupinetti ◽  
Syed Mehdi
Keyword(s):  
Risk Factors ◽  
Squamous Cell Carcinoma ◽  
Cell Carcinoma ◽  
Head And Neck ◽  
Squamous Cell ◽  
English Literature ◽  
Neck Region ◽  
Multiple Risk Factors ◽  
History Of ◽  
Rare Malignancy

Leiomyosarcoma (LMS) of the trachea is an extremely rare malignancy with only a few reported cases in English literature. As such the diagnosis can be frequently missed or delayed. We present a case of a 69-year-old male who underwent tracheostomy for airway obstruction secondary to glottic squamous cell carcinoma and treated definitely with radiation therapy. Subsequently, the patient developed LMS of the tracheostomy site. The case further details multiple risk factors that could contribute to development of LMS including radiation exposure, prior malignancy, and chronic inflammation. These risk factors have been well established for LMS in other sites but less so in the head and neck region, which is the subject of our discussion. We also review the current guidelines for head and neck as well as limb sarcomas and discussed role of surgery or radiation and their accompanying challenges in management of this rare malignancy.

scholarly journals Clozapine-induced stuttering in the absence of known risk factors: a case report

2021 ◽  
Vol 15 (1) ◽  
Author(s):  
Florence Jaguga
Keyword(s):  
Risk Factors ◽  
Family History ◽  
Side Effect ◽  
Case Reports ◽  
Extrapyramidal Symptoms ◽  
Prior History ◽  
Case Presentation ◽  
Rare Side Effect ◽  
History Of ◽  
Electrophysiological Findings

Abstract Background Stuttering is a rare side effect of clozapine. It has been shown to occur in the presence of one or more factors such as abnormal electrophysiological findings and seizures, extrapyramidal symptoms, brain pathology, and a family history of stuttering. Few case reports have documented the occurrence of clozapine-induced stuttering in the absence of these risk factors. Case presentation A 29-year-old African male on clozapine for treatment-resistant schizophrenia presented with stuttering at a dosage of 400 mg/day that resolved with dose reduction. Electroencephalogram findings were normal, and there was no clinical evidence of seizures. The patient had no prior history or family history of stuttering, had a normal neurological examination, and showed no signs of extrapyramidal symptoms. Conclusion Clinicians ought to be aware of stuttering as a side effect of clozapine, even in the absence of known risk factors. Further research should investigate the pathophysiology of clozapine-induced stuttering.

scholarly journals Management of Multiple Head and Neck Paragangliomas With Assistance of a 3-D Model

2021 ◽  
pp. 014556132110094
Author(s):  
Lifeng Li ◽  
Hongbo Xu ◽  
Xiaohong Chen ◽  
Zhenya Yu ◽  
Jing Zhou ◽  
...  
Keyword(s):  
Head And Neck ◽  
Genomic Analysis ◽  
Study Cohort ◽  
Bilateral Carotid ◽  
Succinate Dehydrogenase Complex ◽  
Carotid Body Tumors ◽  
D Model ◽  
Vessel Rupture ◽  
Head And Neck Paragangliomas ◽  
Succinate Dehydrogenase Complex Subunit

Introduction: Extirpation of multiple head and neck paragangliomas carries challenge due to close anatomic relationships with critical neurovascular bundles. Objectives: This study aims to assess whether the application of 3-D models can assist with surgical planning and treatment of these paragangliomas, decrease surgically related morbidity and mortality. Methods: Fourteen patients undergoing surgical resection of multiple head and neck paragangliomas were enrolled in this study. A preoperative 3-D model was created based on radiologic data, and relevant critical anatomic relationships were preoperatively assessed and intraoperatively validated. Results: All 14 patients presented with multiple head and neck paragangliomas, including bilateral carotid body tumors (CBT, n = 9), concurrent CBT with glomus jugulare tumors (GJT, n = 4), and multiple vagal paragangliomas (n = 1). Ten patients underwent genomic analysis and all harbored succinate dehydrogenase complex subunit D (SDHD) mutations. Under guidance of the 3-D model, the internal carotid artery (ICA) was circumferentially encased by tumor on 5 of the operated sides, in 4 (80%) of which the tumor was successfully dissected out from the ICA, whereas ICA reconstruction was required on one side (20%). Following removal of CBT, anterior rerouting of the facial nerve was avoided in 3 (75%) of 4 patients during the extirpation of GJT with assistance of a 3-D model. Two patients developed permanent postoperative vocal cord paralysis. There was no vessel rupture or mortality in this study cohort. Conclusion: The 3-D model is beneficial for establishment of a preoperative strategy, as well as planning and guiding the intraoperative procedure for resection of multiple head and neck paragangliomas.

Myeloid Sarcoma of the Head and Neck Region

2013 ◽  
Vol 137 (11) ◽  
pp. 1560-1568 ◽  
Author(s):  
Jane Zhou ◽  
Diana Bell ◽  
L. Jeffrey Medeiros
Keyword(s):  
Head And Neck ◽  
Low Frequency ◽  
Neck Region ◽  
Immunohistochemical Analysis ◽  
Myeloid Sarcoma ◽  
Head And Neck Region ◽  
Bone Marrow Disease ◽  
Highly Sensitive ◽  
History Of ◽  
High Degree

Context.—Myeloid sarcoma of the head and neck region can pose diagnostic challenges because of the low frequency of myeloid sarcoma and the potential for tumors of almost any lineage to occur in the head and neck. Objective.—To study the clinicopathologic and immunohistochemical characteristics of myeloid sarcoma in the head and neck region and to review the differential diagnosis. Design.—We searched for cases of myeloid sarcoma involving the head and neck region for a 24-year period at our institution. The medical records and pathology slides were reviewed. Additional immunohistochemical stains were performed. Results.—We identified 17 patients, age 17 to 85 years. Most tumors involved the oral cavity. Myeloid sarcoma was the initial diagnosis in 9 patients (53%); the remaining 8 patients (47%) had a history of bone marrow disease. Immunohistochemical analysis using antibodies specific for lysozyme, CD43, and CD68 were highly sensitive for diagnosis but were not specific. By contrast, assessment for myeloperoxidase in this study was less sensitive but more specific. We also used antibodies specific for CD11c and CD33 in a subset of cases, and these reagents seem helpful as well. Conclusions.—The clinical presentation of myeloid sarcoma involving the head and neck, particularly the mouth, is often nonspecific, and a high degree of suspicion for the possibility of myeloid sarcoma is needed. Immunohistochemistry is very helpful for establishing the diagnosis.

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