Insulinoma Associated with MEN1 Syndrome: A Case of Persistent Hypoglycemia in School-aged Child.
J Clin Res Pediatr Endocrinol
; 2023 Aug 25.
Article
en En
| MEDLINE
| ID: mdl-37621212
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 it can also be part of a multiple endocrine neoplasia type 1 syndrome (MEN1). 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.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Tipo de estudio:
Risk_factors_studies
Idioma:
En
Revista:
J Clin Res Pediatr Endocrinol
Año:
2023
Tipo del documento:
Article
País de afiliación:
Colombia
Pais de publicación:
Turquía