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CC BY 4.0 · World J Nucl Med 2023; 22(04): 284-288
DOI: 10.1055/s-0043-1768448
Case Report

Familial MEN1 Syndrome Diagnosed on Functional Imaging: A Case Report with Clinical and Genetic Correlation

Ashwini Kalshetty 
1   Radiation Medicine Centre, Tata Memorial Hospital Annexe, BARC, Mumbai, Maharashtra, India
2   Radiation Medicine Centre, Homi Bhabha National Institute, Mumbai, Maharashtra, India
,
Ashwini Chalikandy 
1   Radiation Medicine Centre, Tata Memorial Hospital Annexe, BARC, Mumbai, Maharashtra, India
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Funding None.
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Abstract

Multiple endocrine neoplasia, type 1 (MEN1) syndrome is an autosomal dominant disease characterized by tumors involving parathyroid, pituitary, and pancreas. The diagnosis is mostly clinical and by the presence of MEN1 gene mutation. We present a case with initial presentation of neuroendocrine tumor of pancreas whose ancillary findings on 68Ga-DOTATATE positron emission tomography-computed tomography helped in raising suspicion of MEN1, which was confirmed on genetic testing and family history. We emphasize the importance of using gestalt approach in such cases to avoid misdiagnosis or delay. Additionally, we describe the clinical profile of affected family members with their MEN1 gene mutation status, highlighting the gestalt approach again to uncover the unknowns.

Keywords

genetic - hyperparathyroidism - MEN1 - NET - PET-CT - phenocopies

Informed Consent

Relatives of the patient have been informed that we are obligated to protect his privacy and not to disclose his personal information. They have given permission to publish or present this case report voluntarily.


Authors' Contributions

AK was involved in conceptualization, methodology, design, analysis, interpretation, data curation, writing (review and editing), and visualization. AK agrees to be accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved. AC helped in data acquisition, data curation, and drafting of the article.


Ethical Approval

We abided by the Declaration of Helsinki diligently.




Publication History

Article published online:
04 December 2023

© 2023. The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution License, permitting unrestricted use, distribution, and reproduction so long as the original work is properly cited. (https://creativecommons.org/licenses/by/4.0/)

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