Abstract
We report the first two Japanese children diagnosed with glucose transporter type
1 (GLUT1) deficiency syndrome. Both boys had been treated under the initial diagnosis
of epilepsy and were reinvestigated for previously unexplainable hypoglycorrhachia.
Myoclonic seizures developed at 4 months of age in Patient #1 (7 years old), and at
2 months of age in Patient #2 (11 years old), followed by cerebellar ataxia, spastic
diplegia, and mental retardation. Both patients had hypoglycorrhachia, and the symptoms
were more severe in the latter. CSF and serum glucose levels determined simultaneously
showed a CSF/serum glucose ratio of below 0.4 in both patients. In mildly affected
Patient #1, the postprandial waking EEG showed improvement in the background activity,
as compared to that recorded after overnight fasting, while no significant changes
were observed in severely affected Patient #2. In both patients, the functional GLUT1
defect was confirmed by 3-O-methyl-d-glucose uptake into erythrocytes. Molecular analyses identified heterozygous novel
mutations in both patients, within exons 6 and 2 of the GLUT1 gene, respectively.
The ketogenic diet was refused in Patient #1, but started in Patient #2 with significant
clinical benefit. Fasting CSF analysis and pre-/postprandial EEG changes in children
with epileptic seizures and unexplainable neurological deterioration help in diagnosing
this potentially treatable disorder.
Keywords
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Article info
Publication history
Accepted:
September 12,
2004
Received in revised form:
August 19,
2004
Received:
December 17,
2003
Identification
Copyright
© 2004 Elsevier B.V. Published by Elsevier Inc. All rights reserved.
