Insulinoma Associated with MEN1 Syndrome: A Case of Persistent Hypoglycemia in a School-aged Child

Abstract

Insulinoma is a rare cause of non-ketotic hypoglycemia, both in adults and in children. Pediatric patients account for approximately 5% of all cases, mostly due to isolated benign lesions, but insulinoma may also be part of a multiple endocrine neoplasia type 1 (MEN1) syndrome. We report the case of a patient with multiple hospitalizations related to hypoglycemia and neuroglycopenia symptoms. Multiple studies demonstrated the presence of an insulinoma. Subsequently, an unreported likely pathogenic variant in the MEN1 gene was identified, suggesting that the clinical presentation of this patient should be part of the spectrum of MEN1 syndrome. The primary significance of this report is to underscore that insulinoma may present as the initial manifestation of MEN1 syndrome, reported to account for around 10% of pediatric insulinomas which are associated with MEN1 syndrome. Furthermore, we describe a previously unreported, likely pathogenic variant in the MEN1 gene. This report highlights the importance of the convergence of clinical, biochemical and molecular investigations in establishing a precise diagnosis, prognosis, and appropriate follow-up for pediatric patients with insulinoma.