| Autor: |
Yoshiro Fushimi, Shinji Kamei, Fuminori Tatsumi, Junpei Sanada, Masashi Shimoda, Tomohiko Kimura, Atsushi Obata, Shuhei Nakanishi, Kohei Kaku, Tomoatsu Mune, Hideaki Kaneto |
| Jazyk: |
angličtina |
| Rok vydání: |
2021 |
| Předmět: |
|
| Zdroj: |
BMC Endocrine Disorders, Vol 21, Iss 1, Pp 1-5 (2021) |
| Druh dokumentu: |
article |
| ISSN: |
1472-6823 |
| DOI: |
10.1186/s12902-021-00821-7 |
| Popis: |
Abstract Background Multiple endocrine neoplasia type 1 (MEN1) is a syndrome characterized by pituitary neoplasia, primary hyperparathyroidism and pancreatic endocrine tumor. Here we show a case of MEN1 with a germline frameshift mutation in its gene accompanied by a giant cervical lipoma and multiple fatty deposits in the pancreas. Case presentation A 28-year-old man noticed the decreased visual acuity of both eyes and visited our institution. Since he was diagnosed as visual disturbance and brain computer tomography (CT) showed a mass in the pituitary fossa, he was hospitalized in our institution. Endoscopic trans-sphenoidal hypophysectomy and total parathyroidectomy with auto-transplantation were performed, and a giant cervical lipoma was resected. Furthermore, in genetic search, we found a germline frameshift mutation in MEN1 gene leading to the appearance of a new stop codon. Conclusions We should bear in m ind that giant skin lipoma and multiple abnormal fatty deposits in the pancreas could be complicated with MEN1. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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