Tuberous Sclerosis Complex and the Ketogenic Diet

Abstract

Summary:Purpose: Tuberous sclerosis complex (TSC) is a condition that is frequently associated with intractable, earlyonset epilepsy, and often is first seen as infantile spasms. If medications fail and no clear epileptogenic tuber is identified, nonpharmacologic therapies are often attempted. The use of the ketogenic diet specifically for children with TSC and epilepsy has not been previously described.Methods: A chart review was performed of patients with TSC treated with the ketogenic diet over a 5-year period at Johns Hopkins Hospital and Massachusetts General Hospital.Results: Twelve children, ages 8 months to 18 years, were identified. Eleven (92%) children had a >50% reduction in their seizures at 6 months on the diet, and 8 (67%) had a >90% response. Five children had at least a 5-month seizure-free response. Diet duration ranged from 2 months to 5 years (mean, 2 years).Conclusions: In this limited-duration case series of 12 patients, the ketogenic diet was a generally effective therapeutic modality for the intractable epilepsy occasionally seen in children with TSC.

State of the ketogenic diet(s) in epilepsy

“…A typical patient is 5 to 10 years of age with a mixed epilepsy syndrome such as Lennox-Gastaut syndrome, although recent studies have demonstrated efficacy in infants, adolescents, and adults [8][9][10]. Additional research has demonstrated efficacy in notoriously refractory disorders such as Dravet syndrome, myoclonic-astatic epilepsy, and tuberous sclerosis complex [11][12][13].…”

Current management for epilepsy in tuberous sclerosis complex

“…The diet may have a role in children with mixed seizures and a previous history of infantile spasms determining more than 50% reduction in their seizures in 92% of children with limited side effects [31 ].…”

Non-pharmacologic Therapeutic Alternatives for Children with Pharmacoresistant Epilepsy: Vagus Nerve Stimulation and Ketogenic Diet

“…Ketojenik diyetin özellikle faydalı ya da kontrendike olduğu düşünülen sendrom ve durumlar [14] Kullanımında özellikle faydalı olduğu kabul edilen Kullanımının kontrendike olduğu kabul edilen [20][21][22] Son çalışmalarda, diyetin infantil spazmlarda, şiddetli miyoklonik epilepside ve tuberozkleroz kompleksinde özel-likle etkin olduğu vurgulanmakta, pediatrik status olguların-da da etkinliğine dikkat çeken olgu sunumları bildirilmektedir. [23][24][25][26][27] Az sayıdaki çalışmalar da, çocuklarda epilepsinin erken dönemlerinde de KD'ye başvurulabileceği konusunda öneriler getirmekte, özellikle iki beyin enerji metabolizma bozukluğu hastalığı olan GLUT 1 Eksikliği Sendromu ve Piruvat Dehidrogenaz Eksikliği'nde (PDHD) erken evrelerde başlanılmasının faydalarından bahsedilmektedir. [28][29][30] Kullanımında özellikle fayda görülen ya da kontrendike bulunan sendrom ve durumlar Tablo 1'de görülmektedir.…”