Ketogenic Diet in Rett Syndrome

Abstract

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).

Get full access to this article

View all access options for this article.

References

Rett A. : Über ein eigenartiges hirnatrophisches Syndrom bei Hyperammonämie im Kindesalter . Wien Med Wochenschr 1966;116:723—726.

Amir RE , Van den Veyver IB , Wan M. , et al: Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat Genet 1999 ; 23:185-188.

Huppke P. , Laccone F. , Kramer N. , et al: Rett syndrome: Analysis of MECP2 and clinical characterization of 31 patients. Hum Mol Genet 2000;9:1369—1375.

Cheadle JP , Gill H. , Fleming N. , et al: Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: Correlation of disease severity with mutation type and location . Hum Mol Genet 2000;9:1119—1129.

Vacca M. , Filippini F. , Budillon A. , et al: Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females. J Mol Med 2001;78:648—655.

The Rett Syndrome Diagnostic Criteria Work Group: Diagnostic criteria for Rett syndrome. Ann Neurol 1988 ;23:425—428.

Haas RH , Rice MA , Trauner DA , Merritt TA : Therapeutic effects of a ketogenic diet in Rett syndrome. Am J Med Genet 1986;24(Suppl 1):225—246.

Swink TT , Vining Epg , Fremann JM : The ketogenic diet: 1997, in Advances in Pediatrics, vol 44. St. Louis, Mosby-Year Book Inc, 1997, 297—329.

Freeman JM , Kelly MT , Freeman JB : The Epilepsy Diet Treatment— An Introduction to the Ketogenic Diet, 2nd ed. New York, Demos Vermande, 1996.

10.

Nordli DR , Kuroda MM , Carroll J. , et al: Experience with the ketogenic diet in infants. Pediatrics 2001;108:129—133.

11.

Pulsifer MB , Gordon JM , Brandt J. , et al: Effects of the ketogenic diet on development and behavior: Preliminary report of a prospective study. Dev Med Child Neurol 2001;43:301—306.