J Korean Child Neurol Soc.  2014 Sep;22(3):182-185.

A Case Report of Glucose Transporter 1 Deficiency Syndrome with a Novel Splice Site Mutation (SLC2A1: c.680-2delA)

• Shin JS
• Lee MJ
• Kim SH

Abstract

Glucose transporter type 1 deficiency syndrome (GLUT1-DS) is caused by impaired glucose transport across the blood-brain barrier (BBB) and characterized by infantile seizures, developmental delay, acquired microcephaly, spasticity, ataxia, and a low cerebrospinal glucose concentration (hypoglycorrhachia). A diagnosis of GLUT1-DS is biochemically established in neurologically impaired patients with hypoglycorrhachia in the normoglycemia. GLUT1-DS can be confirmed by mutation analysis of the solute carrier family 2 (facilitated glucose transporter), member 1 (SLC2A1) gene or reduced 3-O-methyl-D-glucose uptake into erythrocytes. The patient was a 12-year-old boy born at term. He had experienced seizures from 4 months of age. Electroencephalography (EEG) did not show epileptiform activity. Brain magnetic resonance imaging (MRI) revealed mild diffuse cortical atrophy and ventricular dilatation. Furthermore, he showed developmental delay, mental retardation, and ataxia, which all became more apparent with age progression. For 7 years, he had experienced paroxysmal episodes of atonic behavioral changes that were aggravated before meals or when he became tired. When he was 12 years old, cerebrospinal fluid (CSF) analysis revealed a low glucose concentration in the normal serum glucose and lactate levels. Under the impression of GLUT1-DS, mutation analysis of the SLC2A1 gene by direct sequencing was performed using white blood cells, and c.680-2delA of intron 5 was found. We describe a GLUT1-DS patient with a typical natural history of GLUT1-DS through a long term follow-up visits, with a novel splice site mutation (SLC2A1: c.6802delA).

Keyword

Glucose transporter type 1; Splice site mutation

MeSH Terms

3-O-Methylglucose
Ataxia
Atrophy
Blood Glucose
Blood-Brain Barrier
Brain
Cerebrospinal Fluid
Child
Diagnosis
Dilatation
Electroencephalography
Erythrocytes
Follow-Up Studies
Glucose
Glucose Transport Proteins, Facilitative*
Glucose Transporter Type 1
Humans
Intellectual Disability
Introns
Lactic Acid
Leukocytes
Magnetic Resonance Imaging
Male
Meals
Microcephaly
Muscle Spasticity
Natural History
Seizures
3-O-Methylglucose
Glucose
Glucose Transport Proteins, Facilitative
Glucose Transporter Type 1
Lactic Acid