GLUT1 Deficiency With Delayed Myelination Responding to Ketogenic Diet - 09/08/11
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, Volkher Engelbrecht, MD †, Hans Scheffer, PhD ‡, Marjo S. van der Knaap, MD, PhD §, Andreas Fiedler, MD 
Children’s Hospital Aschaffenburg, Aschaffenburg; Germany Department of Pediatrics, Klinikum St. Marien, Amberg, Germany Communications should be addressed to: Dr. Klepper; Children’s Hospital Aschaffenburg; Am Hasenkopf; D-63739 Aschaffenburg; Germany.Résumé |
Monitoring effects of a ketogenic diet in GLUT1 deficiency syndrome without seizures is difficult. Neuroimaging is considered uninformative. We report the case of a boy with neurodevelopmental delay, severe ataxia, an E54X-mutation in the SLC2A1 gene (previously GLUT1), and neuroimaging abnormalities indicative of delayed myelination. Six months on a ketogenic diet resulted in an improved high subcortical white matter signal on T2-weighted images and a reduced N-acetylaspartate/creatine ratio. We conclude that delayed subcortical myelination may occur in GLUT1 deficiency syndrome as a nonspecific finding reflecting developmental delay. In patients without seizures, cranial magnetic resonance imaging and magnetic resonance spectroscopy may prove useful tools to monitor the response to a ketogenic diet.
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Vol 37 - N° 2
P. 130-133 - août 2007 Retour au numéro
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