Neonatal hyperinsulinemic hypoglycemia in a patient with 9p deletion syndrome

Abstract

We report the clinical and neuroradiological findings in a young boy harboring the 9p deletion syndrome including the novel findings of thalamic infarction and germinal matrix haemorrhage and neonatal hyperinsulinemic hypoglycemia. Both the hypoglycemic events and the ventriculomegaly found in this patient have previously only been reported in two patients, while the thalamic infarction and germinal matrix haemorrhage are novel features.

Keywords: 9p deletion syndrome; Craniofacial abnormality; Craniosynostosis; Germinal matrix haemorrhage; Neonatal hyperinsulinemic hypoglycemia; Thalamic infarction; Ventriculomegaly.