Beckwith-Wiedemann syndrome (BWS) is a rare genetic disorder characterized by genetic and epigenetic changes on the chromosome 11p15.5 region, which includes genes that are important for fetal and postnatal growth. Children with BWS have a higher chance of having hypoglycemia, hyperinsulinemia, and malignancies early in life, although hypoglycemia caused by an insulinoma that develops later in life has not been reported. We describe the diagnosis of insulinoma in a 53-year-old man with BWS in this case report. This is the first case report of insulinoma in an adult with this syndrome.
Download full-text PDF |
Source |
---|---|
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10580426 | PMC |
http://dx.doi.org/10.1210/jcemcr/luad062 | DOI Listing |
Rev Med Chil
June 2024
Departamento de endocrinología, Hospital Clínico San Borja Arriarán, Santiago, Chile.
Multiple endocrine neoplasia type 1 (MEN1) is a rare autosomal dominant disease with an estimated prevalence of 2 per 100,000. This disease is caused by a mutation in the tumor suppressor gene MEN1, which is located on chromosome 11 and codifies the menin protein. It is characterized by a predisposition of parathyroids, enteropancreatic, and anterior pituitary tumors, affecting the quality of life and lifespan of those who have the disease.
View Article and Find Full Text PDFCureus
November 2024
Endocrinology and Diabetes, Nottingham University Hospitals National Health Service (NHS) Trust, Nottingham, GBR.
Insulinoma, a rare pancreatic neuroendocrine tumor, stealthily lurks within the pancreas, often evading detection until its distinctive symptom, recurrent hypoglycemia, comes to the surface. This case report aims to highlight the significance of a multidisciplinary approach in the management of this uncommon neuroendocrine tumor by discussing the diagnostic, therapeutic, and follow-up difficulties encountered in an older adult presenting with atypical symptoms of insulinoma.
View Article and Find Full Text PDFInt J Cancer
March 2025
OCDEM, Radcliffe Department of Medicine, University of Oxford, Oxford, UK.
Updates Surg
December 2024
Department of Surgery, University of Pittsburgh Medical Center, Pittsburgh, PA, USA.
Clin Nucl Med
January 2025
From the Department of Nuclear Medicine, State Key Laboratory of Complex Severe and Rare Diseases, Beijing Key Laboratory of Molecular Targeted Diagnosis and Therapy in Nuclear Medicine, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Peking Union Medical College, Beijing, China.
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!