title: An unfortunate challenge: Ketogenic diet for the treatment of Lennox-Gastaut syndrome in tyrosinemia type 1.
abstract: The ketogenic diet is an evidence-based treatment for resistant epilepsy including Lennox-Gastaut syndrome. This diet is based on low carbohydrate-high fat intakes. Dietary treatment is also therapeutic for inborn errors of metabolism such as aminoacdiopathies. We report a child with both Lennox-Gastaut syndrome and tyrosinemia type 1. This epilepsy syndrome resulted form a porencephalic cyst secondary to brain abscesses that occurred during the management of malnutrition due to untreated tyrosinemia type 1. We used a ketogenic diet as treatment for Lennox-Gastaut syndrome taking into account dietary requirements for tyrosinemia type 1. The patient was transiently responder during a 6-month period. This report illustrates that ketogenic diet remains a therapeutic option even when additional dietary requirements are needed.
authors.affiliation: AP-HP, Hôpital Robert Debré, Service de Neurologie Pédiatrique et des Maladies Métaboliques, 75019 Paris, France.
authors.forename: Silvana
authors.initials: S
authors.lastname: De Lucia
authors.affiliation: AP-HP, Hôpital Robert Debré, Service de Neurologie Pédiatrique et des Maladies Métaboliques, 75019 Paris, France; Centre de reference Maladies Hereditaires du Metabolisme, Hôpital Robert Debré, 75019 Paris, France.
authors.forename: Samia
authors.initials: S
authors.lastname: Pichard
authors.affiliation: AP-HP, Hôpital Robert Debré, Service de Neurologie Pédiatrique et des Maladies Métaboliques, 75019 Paris, France.
authors.forename: Adina
authors.initials: A
authors.lastname: Ilea
authors.affiliation: AP-HP, Hôpital Robert Debré, Service de Neurologie Pédiatrique et des Maladies Métaboliques, 75019 Paris, France; Centre de reference Maladies Hereditaires du Metabolisme, Hôpital Robert Debré, 75019 Paris, France.
authors.forename: Marie-Odile
authors.initials: MO
authors.lastname: Greneche
authors.affiliation: AP-HP, Hôpital Robert Debré, Service de Neurologie Pédiatrique et des Maladies Métaboliques, 75019 Paris, France; Centre de reference Maladies Hereditaires du Metabolisme, Hôpital Robert Debré, 75019 Paris, France.
authors.forename: Laurent
authors.initials: L
authors.lastname: François
authors.affiliation: AP-HP, Hôpital Robert Debré, Service de Explorations Fonctionnelles, 75019 Paris, France.
authors.forename: Catherine
authors.initials: C
authors.lastname: Delanoë
authors.affiliation: AP-HP, Hôpital Robert Debré, Service de Neurologie Pédiatrique et des Maladies Métaboliques, 75019 Paris, France; Centre de reference Maladies Hereditaires du Metabolisme, Hôpital Robert Debré, 75019 Paris, France; INSERM, U1141, 75019 Paris, France; Université Paris Diderot, Sorbonne Paris Cité, INSERM UMR1141, 75019 Paris, France.
authors.forename: Manuel
authors.initials: M
authors.lastname: Schiff
authors.affiliation: AP-HP, Hôpital Robert Debré, Service de Neurologie Pédiatrique et des Maladies Métaboliques, 75019 Paris, France; INSERM, U1141, 75019 Paris, France; Université Paris Diderot, Sorbonne Paris Cité, INSERM UMR1141, 75019 Paris, France. Electronic address: stephane.auvin@inserm.fr.
authors.forename: Stéphane
authors.initials: S
authors.lastname: Auvin
mesh_terms: D002675:Child, Preschool; D055423:Diet, Ketogenic / Q000379:methods*; D018753:Diet, Protein-Restricted / Q000379:methods*; D005260:Female; D006801:Humans; D007223:Infant; D065768:Lennox Gastaut Syndrome / Q000150:complications / Q000178:diet therapy*; D020176:Tyrosinemias / Q000150:complications / Q000178:diet therapy*
keywords: Antiepileptic drugs; Epilepsy; Ketogenic diet; Lennox–Gastaut syndrome; Tyrosinemia type 1