title: 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.
authors.affiliation: Kinderklinik und Poliklinik der Technischen, Universität München, Munich, Germany.
authors.forename: Gisela Maria
authors.initials: GM
authors.lastname: Liebhaber
authors.forename: Edith
authors.initials: E
authors.lastname: Riemann
authors.forename: Friedrich Albert Matthias
authors.initials: FA
authors.lastname: Baumeister
mesh_terms: D000927:Anticonvulsants / Q000008:administration & dosage; D002648:Child; D002868:Chromosomal Proteins, Non-Histone; D003131:Combined Modality Therapy; D004252:DNA Mutational Analysis; D004268:DNA-Binding Proteins / Q000235:genetics; D018753:Diet, Protein-Restricted; D004041:Dietary Fats / Q000008:administration & dosage* / Q000378:metabolism; D004359:Drug Therapy, Combination; D004569:Electroencephalography / Q000187:drug effects; D004831:Epilepsies, Myoclonic / Q000175:diagnosis / Q000178:diet therapy / Q000235:genetics; D004832:Epilepsy, Absence / Q000175:diagnosis / Q000178:diet therapy / Q000235:genetics; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007657:Ketone Bodies / Q000652:urine*; D051783:Methyl-CpG-Binding Protein 2; D012097:Repressor Proteins; D015518:Rett Syndrome / Q000175:diagnosis / Q000178:diet therapy* / Q000235:genetics; D016896:Treatment Outcome
chemical_list: D000927:Anticonvulsants; D002868:Chromosomal Proteins, Non-Histone; D004268:DNA-Binding Proteins; D004041:Dietary Fats; D007657:Ketone Bodies; C497392:MECP2 protein, human; D051783:Methyl-CpG-Binding Protein 2; D012097:Repressor Proteins