From splitting GLUT1 deficiency syndromes to overlapping phenotypes.

Introduction: Glucose transporter type 1 deficiency syndrome (GLUT1DS) is a rare genetic disorder due to mutations or deletions in SLC2A1, resulting in impaired glucose uptake through the blood brain barrier. The classic phenotype includes pharmacoresistant epilepsy, intellectual deficiency, microcephaly and complex movement disorders, with hypoglycorrhachia, but milder phenotypes have been described (carbohydrate-responsive phenotype, dystonia and ataxia without epilepsy, paroxysmal exertion-induced dystonia). The aim of our study was to provide a comprehensive overview of GLUT1DS in a French cohort.

Capillary haemangioma arising from the anterior choroidal artery.

Background: Capillary haemangioma of the central nervous system is extremely rare. Histologically proven cases developed in the dura mater and choroid plexus, or were typically intracranial extensions of an extra-cranial lesion.

Features: This report details a case that developed in the anterior choroidal artery of a newborn infant and manifested as a lethal intra-cerebral haemorrhage.