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Journal of Child Neurology
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Ketogenic Diet in Rett Syndrome

Gisela Maria Liebhaber

Kinderklinik und Poliklinik der Technischen Universität München Munich, Germany

Edith Riemann

Kinderklinik und Poliklinik der Technischen Universität München Munich, Germany

Friedrich Albert Matthias Baumeister, RD, MD

Kinderklinik und Poliklinik der Technischen Universität München Munich, Germany, FAM.Baumeisterlrz.uni-muenchen.de.

Treatment of Rett syndrome with the ketogenic diet has been reported only once and showed positive effects on seizure frequency and behavior. We report a patient with Rett syndrome who was treated with the ketogenic diet for 4 years. The diet was initiated at the age of 8 years owing to the patient's refractory epilepsy and led to a 70% reduction in seizures. Treatment with the ketogenic diet was also associated with improvements in contact and behavior. Diagnosis of Rett syndrome was confirmed by molecular detection of the Ser134Cys mutation in the MECP2 gene, which has previously been described only in classic Rett syndrome. This observation demonstrates that the ketogenic diet has a positive effect on Rett syndrome. (J Child Neurol 2003;18:74—75).

Journal of Child Neurology, Vol. 18, No. 1, 74-75 (2003)
DOI: 10.1177/08830738030180011801
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J. M. Freeman, E. H. Kossoff, and A. L. Hartman
The Ketogenic Diet: One Decade Later
Pediatrics, March 1, 2007; 119(3): 535 - 543.
[Abstract] [Full Text] [PDF]