Clinical and molecular description of two cases of neonatal diabetes secondary to mutations in PDX1.

Summary: Pancreatic dysgenesis (PD) is a rare congenital disease, with less than 100 cases reported in the literature. In most cases, patients are asymptomatic and the diagnosis is made incidentally. In this report, we present the case of two brothers with a history of intrauterine growth retardation, low birth weight, hyperglycemia, and poor weight gain. The diagnosis of PD and neonatal diabetes mellitus was made by an interdisciplinary team composed of an endocrinologist, a gastroenterologist, and a geneticist. Once the diagnosis was made, treatment with an insulin pump, pancreatic enzyme replacement therapy, and supplementation with fat-soluble vitamins was decided. The use of the insulin infusion pump facilitated the outpatient treatment of both patients. Learning points: Pancreatic dysgenesis is a relatively rare congenital anomaly; most of the time, patients are asymptomatic and are diagnosed incidentally. The diagnosis of pancreatic dysgenesis and neonatal diabetes mellitus should be made with an interdisciplinary team. Due to its flexibility, the use of an insulin infusion pump facilitated the management of these two patients.

Luxación subastragalina lateral: presentación de un caso / Lateral subastragalar dislocation: a case report

La luxación subastragalina o aislada del astrágalo es extremadamente rara, provocada por traumatismos de alta energía que ocasionan graves alteraciones en la biomecánica del tobillo con frecuentes complicaciones que ensombrecen el pronóstico, sobre todo la variedad lateral, que en muchas ocasiones necesita de la reducción abierta para restablecer la integridad anatómica del tobillo.Caso clínico: se presenta un paciente de 54 años de edad con luxación subastragalina lateral, sin fracturas asociadas, pero con alteraciones vasculares y neurológicas que se restablecieron después de la reducción cerrada.Conclusiones: se realizó la reducción inmediata y se inmovilizó con un yeso corto por cinco semanas para evitar o reducir el índice de complicaciones tempranas o tardías, que acompañan a este tipo de lesión específicamente en esta variedad, que ofrece los peores resultados debido a la complejidad del daño anatómico

Subastragalar dislocation or isolated from astragalus is extremely rare, caused by high-energy trauma, producing serious disturbances in the biomechanics of the ankle with frequent complications which affect prognosis, mainly the lateral variety, often needing open reduction to restore the anatomical integrity of the ankle. Clinical case: a 54 year-old man patient with a lateral subastragalar dislocation is presented, neurovascular alterations were identified and these were recovered after closed reduction, there were no associated fractures. Conclusions: immediate closed reduction was performed and the ankle joint was immobilized with a short leg cast for 5 weeks in order to avoid or reduce the rate of early and late complications, which accompany this type lesion, mainly in this variety that show the worst results due to the complexity of anatomical damage