BMC Endocrine Disorders (Aug 2021)

Multiple endocrine neoplasia type 1 with a frameshift mutation in its gene accompanied by a giant cervical lipoma and multiple fatty deposits in the pancreas: case report

  • Yoshiro Fushimi,
  • Shinji Kamei,
  • Fuminori Tatsumi,
  • Junpei Sanada,
  • Masashi Shimoda,
  • Tomohiko Kimura,
  • Atsushi Obata,
  • Shuhei Nakanishi,
  • Kohei Kaku,
  • Tomoatsu Mune,
  • Hideaki Kaneto

DOI
https://doi.org/10.1186/s12902-021-00821-7
Journal volume & issue
Vol. 21, no. 1
pp. 1 – 5

Abstract

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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.

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