Metachronous multiple insulinomas in oculo-facio-cardio-dental syndrome harboring a novel BCOR deletion: a case report with review of literature.
Shinsuke Noso, Hiroki Miki, Yoshihisa Hiromine et al.
✦ AI-curated · Sources linked
Case in brief
A female patient with genetically confirmed oculo-facio-cardio-dental (OFCD) syndrome, due to a novel BCOR deletion, presented with recurrent hypoglycemic episodes. Investigations revealed metachronous multiple insulinomas, confirmed by histopathology, requiring several surgical interventions. This case highlights the association of OFCD syndrome with pancreatic neuroendocrine tumors, expanding the understanding of its clinical implications.
What made this case unusual
The case uniquely illustrates the metachronous development of multiple insulinomas in a patient with OFCD syndrome, a connection not previously established in the literature.
Diagnostic / clinical pearl
Clinicians should consider the potential for insulinoma development in patients with OFCD syndrome, particularly those with genetic confirmation.
Why it matters
This case emphasizes the need for long-term surveillance in patients with OFCD syndrome to better understand their risk for endocrine tumors.