Multiple Endocrine Neoplasia Type 1: A Case Report

Abstract Background: Multiple endocrine neoplasia type 1 (MEN1) is a rare genetic syndrome inherited in an autosomal dominant pattern, resulting from mutations in the MEN1 tumor suppressor gene. Diagnosis is typically established based on clinical criteria, characterized by the presence of two or more primary MEN1-associated tumors (including parathyroid, anterior pituitary, and pancreatic islet tumors). Here, we present the case of a patient who exhibited classic clinical features and imaging findings consistent with MEN1. Case Report: A man in his early thirties, known for hyperparathyroidism presented with abdominal symptoms suggestive of Zollinger-Ellison syndrome: worsening epigastric pain, nausea, vomiting, and diarrhea. Abdominal contrast-enhanced computed tomography (CT) revealed hyperenhancing lesions in the pancreas indicative of a pancreatic neuroendocrine tumor (gastrinoma). Thyroid ultrasound and sestamibi scintigraphy demonstrated a parathyroid adenoma. MRI brain revealed pituitary micro adenoma. Based on the comprehensive clinical history, imaging findings, and confirmed tumors, the patient was diagnosed clinically with MEN1 syndrome and underwent appropriate surgical and medical interventions. Conclusion: This case underscores the classic clinical presentation and imaging characteristics of MEN1 syndrome, encompassing pancreatic neuroendocrine tumors, parathyroid adenomas, and adrenal adenomas. Physicians should maintain a high index of suspicion for MEN1 when encountering patients with suggestive symptoms, prompting thorough endocrinologic evaluation, laboratory assessments, and targeted imaging studies of pertinent endocrine organs, as illustrated in this case.