Tuberous sclerosis complex and the ketogenic diet.
OBJECTIVE
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.
Kossoff
Eric H
EH
Departments of Neurology and Pediatrics, The John M. Freeman Pediatric Epilepsy Center, Johns Hopkins University, Baltimore, MD 212871000, USA. ekossoff@jhmi.edu
Thiele
Elizabeth A
EA
Pfeifer
Heidi H
HH
McGrogan
Jane R
JR
Freeman
John M
JM
D000293:Adolescent; D000927:Anticonvulsants / Q000009:adverse effects / Q000627:therapeutic use; D002648:Child; D002675:Child, Preschool; D015897:Comorbidity; D004041:Dietary Fats / Q000008:administration & dosage / Q000378:metabolism; D004827:Epilepsy / Q000178:diet therapy* / Q000188:drug therapy / Q000453:epidemiology; D005260:Female; D006801:Humans; D007223:Infant; D007662:Ketosis / Q000378:metabolism*; D008297:Male; D016896:Treatment Outcome; D014402:Tuberous Sclerosis / Q000178:diet therapy* / Q000188:drug therapy / Q000453:epidemiology
D000927:Anticonvulsants; D004041:Dietary Fats