open access

Vol 62, No 6 (2011)
Case report
Published online: 2011-12-06
Submitted: 2013-02-15
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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
Endokrynologia Polska 2011;62(6):548-553.

open access

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

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)
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)

Pages

548-553

Published online

2011-12-06

Bibliographic record

Endokrynologia Polska 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

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