Table of Contents

HK J Paediatr (New Series)
Vol 22. No. 1, 2017

HK J Paediatr (New Series) 2017;22:46-49

Case Report

Glucose Transporter Type 1 Deficiency Syndrome in a 4-year-old Chinese Boy

CK Chow, SN Wong, CK Ma , HM Luk


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.

Keyword : Glucose transporter type 1 deficiency syndrome; Hypoglycorrhachia, SLC2A1

Abstract in Chinese


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