Vol 62, No 6 (2011)
Case report
Submitted: 2013-02-15
Published online: 2011-12-06
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.
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)
Keywords
medullary thyroid carcinoma; pheochromocytoma; MEN 2B syndrome
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