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

We report the case of a patient with multiple hospitalizations related to hypoglycemia and neuroglycopenia symptoms, with multiple studies demonstrating the presence of an insulinoma as part of the spectrum of MEN1 syndrome. The primary significance of our report is to underscore that insulinoma can present as the initial manifestation of MEN1 syndrome in 10% of pediatric patients. Furthermore, we describe a likely pathogenic variant in the MEN1 gene not previously reported in the literature. Our 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 hypoglycemia.PMID:37621212 | DOI:10.4274/jcrpe.galenos.2023.2023-3-10
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - Category: Endocrinology Authors: Source Type: research