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

Abstract

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.

Figure 1

Genealogical tree: A (years) M (months). The squares represent men; circles represent women. The colored figures indicate the cases of PA. Figures with black dots indicate obligate carriers of the variants in the PDX1 gene. Figures with diagonal lines indicate death. The diamond indicates undetermined sex, and the triangle indicates gestational loss.

Figure 2

Nuclear magnetic resonance images of the abdomen of the first male patient case: (A) coronal section and (B) sagittal section; the arrow indicates the site where the pancreas should be visualized.