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Tuberous sclerosis complex and the ketogenic diet
Eric H Kossoff1, Elizabeth A Thiele, Heidi H Pfeifer
1Departments of Neurology and Pediatrics, The John M. Freeman Pediatric Epilepsy Center, Johns Hopkins University, Baltimore, MD 212871000, USA. ekossoff@jhmi.edu
Insights
The ketogenic diet effectively reduced seizures in children with Tuberous Sclerosis Complex (TSC) and epilepsy. This dietary therapy showed significant seizure reduction in most patients when medications failed.
Area of Science:
- Neurology
- Pediatrics
- Dietary Therapies
Background:
- Tuberous Sclerosis Complex (TSC) frequently causes intractable early-onset epilepsy, often presenting as infantile spasms.
- When pharmacologic treatments fail and no clear epileptogenic tuber is identified, non-pharmacologic therapies are considered.
- The efficacy of the ketogenic diet for epilepsy in children with TSC has not been previously documented.
Observation:
- A retrospective chart review identified 12 pediatric patients with TSC treated with the ketogenic diet.
- Patients ranged in age from 8 months to 18 years.
- Treatment duration varied from 2 months to 5 years, with a mean of 2 years.
Findings:
- 92% of children experienced over a 50% reduction in seizures at 6 months.
- 67% of children achieved over a 90% seizure reduction.
- Five children had a seizure-free period of at least 5 months.
Implications:
- The ketogenic diet appears to be a generally effective treatment for intractable epilepsy in children with TSC.
- This dietary intervention offers a viable therapeutic option for refractory epilepsy in this population.
- Further research may explore long-term outcomes and optimal implementation of the ketogenic diet for TSC-associated epilepsy.
Purpose:
Tuberous sclerosis complex (TSC) is a condition that is frequently associated with intractable, early-onset 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.
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