Korean J Pediatr.  2016 Nov;59(Suppl 1):S29-S31. 10.3345/kjp.2016.59.11.S29.

Glucose transport 1 deficiency presenting as infantile spasms with a mutation identified in exon 9 of SLC2A1

• Lee HH
• Hur YJ

• KMID: 2362249
• DOI: http://doi.org/10.3345/kjp.2016.59.11.S29

Abstract

Glucose transport 1 (GLUT-1) deficiency is a rare syndrome caused by mutations in the glucose transporter 1 gene (SLC2A1) and is characterized by early-onset intractable epilepsy, delayed development, and movement disorder. De novo mutations and several hot spots in N34, G91, R126, R153, and R333 of exons 2, 3, 4, and 8 of SLC2A1 are associated with this condition. Seizures, one of the main clinical features of GLUT-1 deficiency, usually develop during infancy. Most patients experience brief and subtle myoclonic jerk and focal seizures that evolve into a mixture of different types of seizures, such as generalized tonic-clonic, absence, myoclonic, and complex partial seizures. Here, we describe the case of a patient with GLUT-1 deficiency who developed infantile spasms and showed delayed development at 6 months of age. She had intractable epilepsy despite receiving aggressive antiepileptic drug therapy, and underwent a metabolic workup. Cerebrospinal fluid (CSF) examination showed CSF-glucose-to-blood-glucose ratio of 0.38, with a normal lactate level. Bidirectional sequencing of SLC2A1 identified a missense mutation (c.1198C>T) at codon 400 (p.Arg400Cys) of exon 9.

Keyword

GLUT-1 deficiency syndrome; Infantile spasm; SLC2A1 protein

MeSH Terms

Cerebrospinal Fluid
Codon
Drug Resistant Epilepsy
Drug Therapy
Exons*
Glucose Transport Proteins, Facilitative
Glucose Transporter Type 1
Glucose*
Humans
Infant
Infant, Newborn
Lactic Acid
Movement Disorders
Mutation, Missense
Myoclonus
Seizures
Spasms, Infantile*
Codon
Glucose
Glucose Transport Proteins, Facilitative
Glucose Transporter Type 1
Lactic Acid