CK Chow, SN Wong, CK Ma , HM Luk

Abstract

Glucose transporter type 1 deficiency syndrome (GLUT-1 DS) is a rare neurological disease first described in 1991. We describe a four-year-old Chinese boy with GLUT-1 DS who presented with hypoglycorrhachia, developmental delay, clinical seizure and microcephaly. This diagnosis was arrived from array Comparative Genomic Hybridization (aCGH) which identified a heterozygous deletion of SLC2A1 gene. We alert clinicians this relatively new entity, as well as the use of aCGH in unexplained neurological condition, as early recognition and treatment by ketogenic diet is critical to mitigate the progression of the disease.