We have located links that may give you full text access.
Case Reports
Journal Article
Review
Familial paragangliomas of the head and neck.
Archives of Otolaryngology - Head & Neck Surgery 1994 November
OBJECTIVE: It has been known for some time that paragangliomas of the head and neck may be familial. Recent evidence suggests genomic imprinting is an important factor in the clinical development of these tumors. In genomic imprinting the imprintable gene is transmitted in a mendelian manner, but expression of the gene is determined by the sex of the transmitting parent. In the case of paragangliomas, the gene does not result in the development of tumors when maternally inherited. The purpose of this study was to determine if this hypothesis correctly predicted the inheritance pattern of familial paraganglioma in a large series of patients.
SETTING: A retrospective review of case records of the Mayo Clinic, Rochester, Minn, a tertiary referral center, was performed for the years 1950 to 1992 to identify patients with familial paragangliomas of the head and neck.
PATIENTS: A total of 38 patients with familial paragangliomas of the head and neck were identified in nine kindreds.
RESULTS: Carotid body tumors were the most common paragangliomas of the head and neck (34 cases). Glomus jugulare or glomus vagale occurred in eight cases. In 16 (42%) of the patients there were multiple tumors. Surgical complications, primarily cranial nerve palsies, were more frequent for tumors larger than 5 cm in diameter.
CONCLUSIONS: An autosomal dominant inheritance pattern could be shown for paragangliomas of the head and neck that was consistent with genomic imprinting. It is recommended that all individuals in kindreds with paragangliomas be screened after the age of 16 years to detect early asymptomatic tumors.
SETTING: A retrospective review of case records of the Mayo Clinic, Rochester, Minn, a tertiary referral center, was performed for the years 1950 to 1992 to identify patients with familial paragangliomas of the head and neck.
PATIENTS: A total of 38 patients with familial paragangliomas of the head and neck were identified in nine kindreds.
RESULTS: Carotid body tumors were the most common paragangliomas of the head and neck (34 cases). Glomus jugulare or glomus vagale occurred in eight cases. In 16 (42%) of the patients there were multiple tumors. Surgical complications, primarily cranial nerve palsies, were more frequent for tumors larger than 5 cm in diameter.
CONCLUSIONS: An autosomal dominant inheritance pattern could be shown for paragangliomas of the head and neck that was consistent with genomic imprinting. It is recommended that all individuals in kindreds with paragangliomas be screened after the age of 16 years to detect early asymptomatic tumors.
Full text links
Related Resources
Trending Papers
The 'Ten Commandments' for the 2023 European Society of Cardiology guidelines for the management of endocarditis.European Heart Journal 2024 April 18
Challenges in Septic Shock: From New Hemodynamics to Blood Purification Therapies.Journal of Personalized Medicine 2024 Februrary 4
A Guide to the Use of Vasopressors and Inotropes for Patients in Shock.Journal of Intensive Care Medicine 2024 April 14
Prevention and treatment of ischaemic and haemorrhagic stroke in people with diabetes mellitus: a focus on glucose control and comorbidities.Diabetologia 2024 April 17
Diagnosis and Management of Cardiac Sarcoidosis: A Scientific Statement From the American Heart Association.Circulation 2024 April 19
Eosinophilic Esophagitis: Clinical Pearls for Primary Care Providers and Gastroenterologists.Mayo Clinic Proceedings 2024 April
Essential thrombocythaemia: A contemporary approach with new drugs on the horizon.British Journal of Haematology 2024 April 9
Get seemless 1-tap access through your institution/university
For the best experience, use the Read mobile app
All material on this website is protected by copyright, Copyright © 1994-2024 by WebMD LLC.
This website also contains material copyrighted by 3rd parties.
By using this service, you agree to our terms of use and privacy policy.
Your Privacy Choices
You can now claim free CME credits for this literature searchClaim now
Get seemless 1-tap access through your institution/university
For the best experience, use the Read mobile app