scholarly journals Tinnitus With Unexpected Spanish Roots: Head and Neck Paragangliomas Caused by SDHAF2 Mutation

2020 ◽  
Vol 4 (3) ◽  
Author(s):  
Laura Maria Roose ◽  
Niels J Rupp ◽  
Christof Röösli ◽  
Nadejda Valcheva ◽  
Achim Weber ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Head And Neck ◽  
Carotid Body ◽  
Loss Of Function ◽  
Negative Family History ◽  
Paraganglioma Syndrome ◽  
Plasma Free Metanephrines ◽  
The Right ◽  
Head And Neck Paragangliomas

Abstract It is estimated that up to 40% of all head and neck paragangliomas (HNPGL) have a hereditary background with the most common mutations being found in the succinate dehydrogenase (SDH) genes. SDHAF2 mutation leads to the rare paraganglioma syndrome 2. The authors present the case of a 15-year-old male patient with 2, non-secretory HNPGLs, presenting with left-sided, pulsatile tinnitus, and hearing loss. Imaging led to the suspicion of a jugulotympanic paraganglioma on the left, as well as a carotid body tumor on the right. After resection of the jugulotympanic tumor, histology confirmed the presence of a paraganglioma; immunohistochemistry furthermore suggested a loss of SDHB expression. Genetic testing revealed a rare germline, loss-of-function mutation in the SDHAF2 gene, previously described to cause hereditary paraganglioma syndrome 2. Twenty months after the first operation, the patient underwent a resection of the right carotid body paraganglioma. Plasma-free metanephrines/catecholamines always remained within the reference range; the patient is under regular follow-up, and his relatives will be screened. Our findings emphasize the relevance of genetic testing in patients with HNPGL, also with negative family history, especially when the patients present at a young age and with multiple lesions.

scholarly journals Current Approach of Functioning Head and Neck Paragangliomas: Case Report of a Young Patient with Multiple Asynchronous Tumors

2020 ◽  
Vol 2020 ◽  
pp. 1-6
Author(s):  
Alejandro Terrones-Lozano ◽  
Alan Hernández-Hernández ◽  
Edgar Nathal Vera ◽  
Gerardo Yoshiaki Guinto-Nishimura ◽  
Jorge Luis Balderrama-Bañares ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Head And Neck ◽  
Germline Mutation ◽  
Germline Mutations ◽  
Current Approach ◽  
Genetic Syndromes ◽  
Pet Ct ◽  
History Of ◽  
Head And Neck Paragangliomas

Introduction. Pheochromocytomas (Pheo) and paragangliomas (PGL) are rare neuroendocrine tumors arising from chromaffin cells of the adrenal medulla and from the extra-adrenal autonomic paraganglia, respectively. Only 1–3% of head and neck PGL (HNPGL) show elevated catecholamines, and at least 30% of Pheo and PGL (PCPG) are associated with genetic syndromes caused by germline mutations in tumor suppressor genes and proto-oncogenes. Clinical Case. A 33-year-old man with a past medical history of resection of an abdominal PGL at the age of eleven underwent a CT scan after a mild traumatic brain injury revealing an incidental brain tumor. The diagnosis of a functioning PGL was made, and further testing was undertaken with a PET-CT with 68Ga-DOTATATE, SPECT-CT 131-MIBG, and genetic testing. Discussion and Conclusion. The usual clinical presentation of functioning PCPG includes paroxistic hypertension, headache, and diaphoresis, sometimes with a suggestive family history in 30–40% of cases. Only 20% of PGL are located in head and neck, of which only 1–3% will show elevated catecholamines. Metastatic disease is present in up to 50% of cases, usually associated with a hereditary germline mutation. However, different phenotypes can be observed depending on such germline mutations. Genetic testing is important in patients with PCPG since 31% will present a germline mutation. In this particular patient, an SDHB gene mutation was revealed, which can drastically influence the follow-up plan and the genetic counsel offered. A multidisciplinary approach is mandatory for every patient presenting with PCPG.

Multiple glomus tumours

1992 ◽  
Vol 106 (6) ◽  
pp. 538-543 ◽  
Author(s):  
Dimitris G. Balatsouras ◽  
Panayotis N. Eliopoulos ◽  
Costas N. Economou
Keyword(s):  
Head And Neck ◽  
Carotid Body ◽  
Glomus Tumour ◽  
Diagnosis And Management ◽  
Glomus Tympanicum ◽  
Primary Neoplasms ◽  
The Right ◽  
Head And Neck Paragangliomas

AbstractA patient with multiple, synchronous, non-familial head and neck paragangliomas is reported. There were three primary neoplasms, a glomus tympanicum and glomus vagale on the right side and a glomus tumour of the carotid body on the left. Such a combination has never been reported previously.The reports of all the series with paragangliomas in the literature, as well as the reports of single cases with multiple tumours during the last three decades, are reviewed. Specific problems in diagnosis and management of multiple glomus tumours are discussed.

scholarly journals Bilateral angiomyolipoma of the kidney in patient with tuberous sclerosis

2005 ◽  
Vol 133 (9-10) ◽  
pp. 433-437
Author(s):  
Radoje Colovic ◽  
Natasa Colovic ◽  
Nikica Grubor ◽  
Vladimir Radak ◽  
Marijan Micev ◽  
...  
Keyword(s):  
Tuberous Sclerosis ◽  
Complete Loss ◽  
Hla Typing ◽  
Uneventful Recovery ◽  
Loss Of Function ◽  
Kidney Tumors ◽  
Benign Nature ◽  
The Right ◽  
Slow Growing

Angiomyolipomas are relatively frequent tumors of the kidney. It is believed that about 10 million people worldwide have such a tumor. About 1/10 of these 10 million are patients who suffer from tuberous sclerosis. The tumors are frequently bilateral, slow growing, and usually a symptomatic, as well as being rare in children. Due to the benign nature of angiomyolipomas, surgical treatment and embolisation of the tumors are generally not recommended, unless renal function is endangered, the symptoms are severe, or the kidney in question becomes completely dysfunctional. This is particularly the case in patients with tuberous sclerosis in whom these tumors are either already bilateral or may become so. We present a 24-year-old woman with tuberous sclerosis in whom bilateral kidney tumors were diagnosed 7 years earlier and in whom we carried out a left nephrectomy of a 5300 gram angiomyolipoma, which caused pain and complete loss of function. Although timorous, the right kidney was functional, so it was left untouched. After an uneventful recovery, a close follow-up was recommended, as well as HLA typing, as it is highly probable that the right kidney will gradually become inadequate or completely dysfunctional, so that haemodialysis and/or kidney transplantation along with nephrectomy will become necessary.

scholarly journals An isolated pilomatricoma of the leg: a rare location – A Case Study

2021 ◽  
pp. 28
Keyword(s):  
Head And Neck ◽  
Lower Limbs ◽  
Surgical Removal ◽  
Skin Tumour ◽  
Postoperative Course ◽  
Hair Matrix ◽  
Rare Location ◽  
The Right

Pilomatricoma is a rare, benign skin tumour arising from the hair matrix. The usual locations are the head and neck. Localization in the lower limbs is exceptional. The diagnosis of certainty is histological. Treatment is complete surgical removal to avoid recurrence. We report in this article the case of a rare localization of a pilomatricoma on the right leg, in a 25-year-old patient operated with complete surgical removal. The postoperative course was simple and without recurrence after 2 months of follow-up.

scholarly journals Melanotic neuroectodermal tumour of infancy presenting as a lytic lesion in femur: a rare tumour at a rare site with an unusual behaviour

2019 ◽  
Vol 12 (10) ◽  
pp. e231959
Author(s):  
Nishu Bhardwaj ◽  
Rajni Yadav ◽  
Venkatesan Sampath Kumar ◽  
Shah Alam Khan
Keyword(s):  
Head And Neck ◽  
Spontaneous Regression ◽  
Benign Lesion ◽  
Osteolytic Lesion ◽  
Lytic Lesion ◽  
Rare Tumour ◽  
Neuroectodermal Tumour ◽  
Rare Site ◽  
The Right

Melanotic neuroectodermal tumour of infancy (MNTI) is an uncommon tumour, predominantly occurring in head and neck, mostly maxilla, but also in skull and mandible. Although a benign lesion, it is known to recur in 15%–27% of cases, and rarely, may undergo malignant transformation. We present a case of a 5-month-old female patient, who presented with a gradually progressive swelling in the right thigh. On imaging, an osteolytic lesion was seen, involving the metadiaphysis of shaft of right femur. A biopsy was performed, on which diagnosis of MNTI was made. MNTI is rarely seen in extremities. To the best of our knowledge, only six cases have been reported in femur, the present case being the seventh. The tumour showed spontaneous regression on follow-up in our patient, which has rarely been described. A knowledge of characteristic morphology and immunohistochemistry is the key to differentiate it from other tumours.

scholarly journals Head-and-neck paragangliomas are associated with sleep-related complaints, especially in the presence of carotid body tumors

2011 ◽  
Vol 16 (2) ◽  
pp. 527-534 ◽  
Author(s):  
Bas Havekes ◽  
Florine Kastelein ◽  
Agatha A. van der Klaauw ◽  
Nicolette van Duinen ◽  
Jeroen C. Jansen ◽  
...  
Keyword(s):  
Head And Neck ◽  
Carotid Body ◽  
Carotid Body Tumors ◽  
Head And Neck Paragangliomas

Genetic Testing in Head and Neck Paragangliomas: Who, What, and Why?

2011 ◽  
Vol 145 (2_suppl) ◽  
pp. P66-P66
Author(s):  
Shankar K. Sridhara ◽  
Thereasa Rich ◽  
Camilo Jimenez ◽  
Ehab Y. N. Hanna ◽  
Michael E. Kupferman
Keyword(s):  
Genetic Testing ◽  
Head And Neck ◽  
Head And Neck Paragangliomas

scholarly journals Increased prevalence of catecholamine excess and phaeochromocytomas in a well-defined Dutch population with SDHD-linked head and neck paragangliomas

2005 ◽  
Vol 152 (1) ◽  
pp. 87-94 ◽  
Author(s):  
W H van Houtum ◽  
E P M Corssmit ◽  
P B Douwes Dekker ◽  
J C Jansen ◽  
A G L van der Mey ◽  
...  
Keyword(s):  
Magnetic Resonance Imaging ◽  
Magnetic Resonance ◽  
Head And Neck ◽  
Histopathological Examination ◽  
Positive Family History ◽  
Mibg Scintigraphy ◽  
Resonance Imaging ◽  
Catecholamine Excess ◽  
Head And Neck Paragangliomas

Objective: The aim of this study was to identify the prevalence of catecholamine excess and phaeochromocytomas in a well-defined population of people with hereditary head and neck paragangliomas. Methods: We studied in a prospective follow-up protocol all consecutive patients referred to the Department of Endocrinology, Leiden University Medical Center, Leiden, The Netherlands with documented head and neck paragangliomas and either a positive family history for paragangliomas or a proven SDHD gene mutation. Initial analysis included medical history, physical examination and the measurement of excretion of catecholamines in two 24-h urine collections. In the case of documented catecholamine excess iodinated meta-iodobenzylguanidine (123I-MIBG) scintigraphy and magnetic resonance imaging were done. Results: Between 1988 and 2003, 40 consecutive patients (20 male and 20 female) with documented head and neck paragangliomas were screened. Biochemical screening revealed urinary catechol-amine excess in 15 patients (37.5%). In nine of these 15 patients a lesion was found by 123I-MIBG scintigraphy. Exact localization by magnetic resonance imaging revealed phaeochromocytomas in seven of the 15 patients. One of the nine patients had an extra-adrenal paraganglioma. Histopathological examination in a subset of tumors displayed loss of heterozygosity of the wild-type SDHD allele in all cases. Conclusions: The prevalence of catecholamine excess (37.5%) and phaeochromocytomas (20.0%) is high in patients with familial head and neck paragangliomas. Therefore, patients with hereditary head and neck paragangliomas require lifelong follow up by biochemical testing for catecholamine excess.

Laryngeal paraganglioma in a patient with multiple head and neck paragangliomas

2005 ◽  
Vol 132 (3) ◽  
pp. 520-522 ◽  
Author(s):  
Adam D. Rubin ◽  
Sara S. Cheng ◽  
Carol R. Bradford
Keyword(s):  
Head And Neck ◽  
Neuroendocrine Tumors ◽  
Carotid Body ◽  
Additional Case ◽  
Carotid Body Tumor ◽  
Head And Neck Paragangliomas ◽  
Synchronous Lesion

Paragangliomas of the larynx are rare neuroendocrine tumors, with fewer than 70 cases reported in the literature. 1 Typically, laryngeal paragangliomas are not found in patients with multicentric or familial paragangliomas. Only 1 case of laryngeal paraganglioma has been reported in a patient with a synchronous lesion elsewhere (carotid body tumor). 2 We report an additional case of a patient with a laryngeal and multiple other paragangliomas.

scholarly journals A Case Report of the Reconstruction of a Bone Defect Following Resection of a Comminuted Fracture of the Lateral Clavicle Using a Titanium Prosthesis

2021 ◽  
Vol 8 ◽  
Author(s):  
Sahar Ahmed Abdalbary ◽  
Sherif M. Amr ◽  
Khaled Abdelghany ◽  
Amr A. Nssef ◽  
Ehab A. A. El-Shaarawy
Keyword(s):  
Case Report ◽  
Bone Defect ◽  
Radiographic Evaluation ◽  
Loss Of Function ◽  
Limb Weakness ◽  
Element Analysis ◽  
Lateral Clavicle ◽  
Comminuted Fracture ◽  
The Right

Introduction: This case report describes the reconstruction of a severe comminuted fracture and bone defect in the lateral half of the clavicle using a novel titanium prosthesis. This unique prosthesis has been specifically designed and three dimensionally printed for the clavicle, as opposed to the Oklahoma cemented composite prosthesis used in common practice. The aims of this study were to: (1) describe the prosthesis, its stress analysis, and its surgical fixation and (2) to demonstrate the results of the 2-year follow-up of the patient with the lateral clavicle prosthesis.Patient's Main Concerns: A 20-year-old, right-handed woman complaining of severe pain in the right shoulder was admitted to our hospital following a traffic accident. Physical examination revealed pain, swelling, tenderness, limb weakness, asymmetric posturing, and loss of function in the right shoulder.Diagnosis, Intervention, and Outcomes: Radiographic evaluation in the emergency room showed complete destruction with a comminuted fracture of the lateral half of the right clavicle and a comminuted fracture of the coracoid. We designed a new prosthesis for the lateral half of the clavicle, which was then tested by finite element analysis and implanted. Use of the new prosthesis was effective in the reconstruction of the comminuted fracture in the lateral half of the clavicle. After 2 years of follow-up, the patient had an aesthetically acceptable curve and was able to perform her activities of daily living. Her pain was relieved, and the disabilities of the arm, shoulder, and hand score improved. Active range of motion of the shoulder joint and muscle strength were also improved.Conclusion: This novel prosthesis is recommended for reconstruction of the lateral half of the clavicle following development of bony defects due to fracture. Our patient achieved functional and aesthetic satisfaction with this prosthesis.

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