Reversible white matter lesions during ketogenic diet therapy in glucose transporter 1 deficiency syndrome.
BACKGROUND
Glucose transporter type 1 deficiency syndrome is caused by brain energy failure resulting from a disturbance in glucose transport.


METHODS
We describe a 4-year-old boy with classical type glucose transporter type 1 deficiency syndrome with a heterozygous splice acceptor site mutation (c.517-2A>G) in the SLCA2A1 gene.


RESULTS
We initiated a ketogenic diet at 4 months of age. However, even though his condition was good during ketogenic diet therapy, multiple cerebral white matter and right cerebellum lesions appeared at 9 months of age. The lesions in the cerebral white matter subsequently disappeared, indicating that white matter lesions during diet therapy may be reversible and independent of the ketogenic diet.


CONCLUSIONS
This is the first report of reversible white matter lesions during ketogenic diet therapy in glucose transporter type 1 deficiency syndrome.
Department of Pediatrics, Chiba University Graduate School of Medicine, Chiba, Japan. Electronic address: asuha_hare@yahoo.co.jp.
Tadashi
T
Shiohama
Katsunori
K
Fujii
Satoru
S
Takahashi
Fumito
F
Nakamura
Yoichi
Y
Kohno
D002239:Carbohydrate Metabolism, Inborn Errors / Q000178:diet therapy*; D002675:Child, Preschool; D055423:Diet, Ketogenic / Q000009:adverse effects*; D006801:Humans; D056784:Leukoencephalopathies / Q000139:chemically induced* / Q000175:diagnosis; D008279:Magnetic Resonance Imaging; D008297:Male; D009004:Monosaccharide Transport Proteins / Q000172:deficiency*
D009004:Monosaccharide Transport Proteins
glucose transporter 1 deficiency syndrome; ketogenic diet; magnetic resonance imaging; reversible brain lesions