Obstetric and neurodevelopmental outcome in fetal cerebral ventriculomegaly.

PURPOSE: The purpose of this study is to establish the obstetric and early neurological outcomes of fetuses diagnosed with intrauterine ventriculomegaly (VM). MATERIALS AND METHODS: This retrospective study included 27 fetuses with VM diagnosed by ultrasound (US) and referred for in utero magnetic resonance imaging (MRI). US and MRI reports and laboratory test results were obtained including chromosome analysis, congenital infections, and first and second trimester screening tests. Infants were evaluated for clinical outcome for six to 24 months of age. RESULTS: Twenty (51%) fetuses had mild and 19 (49%) fetuses had severe VM. Accompanying central nervous system (CNS) anomalies were statistically significantly more common in severe VM group. The outcome of mild VM group was statistically significantly better than in the severe VM group. CONCLUSIONS: The authors conclude that ventricular dimension is a significant prognostic factor to detennine the outcome of fetal cerebral VM. The presence of accompanying CNS anomalies is more common with severe VM and may be considered as an unfavorable indicator for a better outcome.

A novel GATA6 mutation leading to congenital heart defects and permanent neonatal diabetes: a case report.

Permanent neonatal diabetes mellitus is a rare condition mostly due to heterozygous mutations in the KCNJ11, ABCC8 and INS genes. Neonatal diabetes due to pancreatic agenesis is extremely rare. Mutations in PDX1, PTF1A, HNF1B, EIF2AK3, RFX6 and GATA6 genes have been shown to result in pancreatic agenesis or hypoplasia. This report describes a 40-day-old male infant diagnosed with permanent neonatal diabetes associated with atrial septal defect, pulmonary stenosis, patent ductus arteriosus and a novel de novo heterozygous missense mutation (p.N466S) in the GATA6 gene with no evidence of exocrine pancreas insufficiency. In addition to permanent neonatal diabetes, the patient had transient idiopathic neonatal cholestasis and hypoglycaemic episodes unrelated to insulin treatment, features that are rarely described in children with permanent neonatal diabetes.