Multimedialna platforma wiedzy medycznej Internetowa Księgarnia Medyczna Kalendarium Konferencji
Endokrynologia Polska
MENU
Shortcuts Submit an article Author Guidelines Polish Society of Endocrinology Reviewers 2023 Redeem voucher

open access

Vol 62, No 6 (2011)
Case report
Submitted: 2013-02-15
Published online: 2011-12-06
View PDF Download PDF file
Get Citation

Late diagnosis of type 2B multiple endocrine neoplasia (MEN 2B) in a 23 year-old patient

Elżbieta Andrysiak-Mamos, Elżbieta Sowińska-Przepiera, Ewa Żochowska, Agnieszka Kazimierczyk-Puchalska, Justyna Syrenicz, Jerzy Lubikowski, Bożena Birkenfeld, Anhelli Syrenicz
Endokrynol Pol 2011;62(6):548-553.

open access

Vol 62, No 6 (2011)
Case report
Submitted: 2013-02-15
Published online: 2011-12-06

Abstract

We present a case of MEN 2B diagnosed in a 23 year-old patient on the basis of bilateral pheochromocytoma and medullary thyroid carcinoma. This young male patient also had multiple paragangliomas located along the spine, marfanoid features of body habitus and numerous mucosal neuromas of the oral cavity and intestinal ganglioneuromatosis. The patient was hospitalised several times between the ages of 11 and 14 due to heart rhythm disorders (tachycardia, multiple supraventricular beats) and pain in the precardiac area. Elevated blood pressure was not observed at that time. In 2010, the patient was admitted to hospital due to abdominal pain, nausea, vomiting and hypertension; bilateral adrenal tumours were then detected. The patient was referred to the Department of Endocrinology in Szczecin, with suspected pheochromocytoma in order to continue the diagnostic process. This resulted in the diagnosis of bilateral pheochromocytoma and medullary thyroid carcinoma. On the basis of the whole clinical picture, the diagnosis of MEN 2B was established and subsequently confirmed with genetic test results. Following the removal of adrenal tumours and thyroidectomy, the patient was referred to the Cancer Centre and Institute of Oncology in Gliwice for further treatment (X-ray therapy and further surgery due to recurrence of medullary carcinoma). This article presents a case of late MEN 2B diagnosis despite the presence of clinical symptoms suggestive of Multiple Endocrine Neoplasia observed from early childhood. (Pol J Endocrinol 2011; 62 (6): 548–553)

Abstract

We present a case of MEN 2B diagnosed in a 23 year-old patient on the basis of bilateral pheochromocytoma and medullary thyroid carcinoma. This young male patient also had multiple paragangliomas located along the spine, marfanoid features of body habitus and numerous mucosal neuromas of the oral cavity and intestinal ganglioneuromatosis. The patient was hospitalised several times between the ages of 11 and 14 due to heart rhythm disorders (tachycardia, multiple supraventricular beats) and pain in the precardiac area. Elevated blood pressure was not observed at that time. In 2010, the patient was admitted to hospital due to abdominal pain, nausea, vomiting and hypertension; bilateral adrenal tumours were then detected. The patient was referred to the Department of Endocrinology in Szczecin, with suspected pheochromocytoma in order to continue the diagnostic process. This resulted in the diagnosis of bilateral pheochromocytoma and medullary thyroid carcinoma. On the basis of the whole clinical picture, the diagnosis of MEN 2B was established and subsequently confirmed with genetic test results. Following the removal of adrenal tumours and thyroidectomy, the patient was referred to the Cancer Centre and Institute of Oncology in Gliwice for further treatment (X-ray therapy and further surgery due to recurrence of medullary carcinoma). This article presents a case of late MEN 2B diagnosis despite the presence of clinical symptoms suggestive of Multiple Endocrine Neoplasia observed from early childhood. (Pol J Endocrinol 2011; 62 (6): 548–553)

Full Text:

View PDF Download PDF file
Get Citation

Keywords

medullary thyroid carcinoma; pheochromocytoma; MEN 2B syndrome

About this article
Title

Late diagnosis of type 2B multiple endocrine neoplasia (MEN 2B) in a 23 year-old patient

Journal

Endokrynologia Polska

Issue

Vol 62, No 6 (2011)

Article type

Case report

Pages

548-553

Published online

2011-12-06

Page views

1821

Article views/downloads

1908

Bibliographic record

Endokrynol Pol 2011;62(6):548-553.

Keywords

medullary thyroid carcinoma
pheochromocytoma
MEN 2B syndrome

Authors

Elżbieta Andrysiak-Mamos
Elżbieta Sowińska-Przepiera
Ewa Żochowska
Agnieszka Kazimierczyk-Puchalska
Justyna Syrenicz
Jerzy Lubikowski
Bożena Birkenfeld
Anhelli Syrenicz

Regulations

Important: This website uses cookies. More >>

The cookies allow us to identify your computer and find out details about your last visit. They remembering whether you've visited the site before, so that you remain logged in - or to help us work out how many new website visitors we get each month. Most internet browsers accept cookies automatically, but you can change the settings of your browser to erase cookies or prevent automatic acceptance if you prefer.

Via MedicaWydawcą jest  VM Media Group sp. z o.o., Grupa Via Medica, ul. Świętokrzyska 73, 80–180 Gdańsk

tel.:+48 58 320 94 94, faks:+48 58 320 94 60, e-mail:  viamedica@viamedica.pl