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

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.

Case report: A novel SON mutation in a Colombian patient with ZTTK syndrome.

Zhu-Tokita-Takenouchi-Kim syndrome is a multisystem disorder resulting from haploinsufficiency in the SON gene, which is characterized by developmental delay/intellectual disability, seizures, facial dysmorphism, short stature, and congenital malformations, primarily in the central nervous system, along with ophthalmic, dental, pulmonary, cardiologic, renal, gastrointestinal, and musculoskeletal anomalies. In this study, we describe the first Colombian patient with ZTT harboring a novel mutation that has not been previously reported and review the clinical and molecular features of previously reported patients in the literature.

Case report: Craniofrontonasal syndrome caused by a novel variant in the gene in a Colombian woman.

Craniofrontonasal Syndrome is a very rare dominant X-linked genetic disorder characterized by symptoms such as hypertelorism, craniosynostosis, eye alterations, bifid nose tip, and longitudinal ridging and splitting of nails. Heterozygous females are usually the patients severely affected. To date, clinical or genetic data have not been published for these patients in Colombia.