A pilot study of a ketogenic diet in patients with Lafora body disease.
OBJECTIVE
Lafora body disease (LBD) is severe and rapidly worsening progressive myoclonus epilepsy (PME), not treatable with specific therapy. In LBD patients, typical polyglucosan accumulations result from alterations of proteins involved in the regulation of glycogen metabolism. Thus, a ketogenic regimen might reasonably be expected to counteract the disease progression. We set out to assess the feasibility and tolerability of a long-term ketogenic diet (KD) in LBD patients and to make a preliminary evaluation of its effect on the disease course.


METHODS
We treated five LBD patients with KD and evaluated the changes in the clinical, neuropsychological and neurophysiological findings over 10-30 months.


RESULTS
The KD was well tolerated in all the patients for the first 16 months. Nutritional measures and laboratory findings remained substantially stable. The disease progressed in all the patients, reaching an advanced stage in one. Electrophysiological findings indicated the presence of increased cortical excitability in four patients, paralleling the worsening of the myoclonus.


CONCLUSIONS
KD was unable to stop the disease progression. However, given the considerable heterogeneity of the natural history of LBD, we cannot exclude the possibility that KD has the potential to slow down the disease progression. The application of this nutritional approach should be further evaluated in larger case series.
Cardinali
Simonetta
S
Department of Child Neuropsychiatry, Child EEG Unit, Foundation C. Mondino Institute of Neurology Via Mondino 2, 27100 Pavia, Italy.
Canafoglia
Laura
L
Bertoli
Simona
S
Franceschetti
Silvana
S
Lanzi
Giovanni
G
Tagliabue
Anna
A
Veggiotti
Pierangelo
P
D000293:Adolescent; D001921:Brain / Q000473:pathology; D002648:Child; D018450:Disease Progression; D005260:Female; D006801:Humans; D007662:Ketosis; D020192:Lafora Disease / Q000150:complications / Q000178:diet therapy* / Q000473:pathology; D008297:Male; D001523:Mental Disorders / Q000209:etiology; D009752:Nutritional Status; D010349:Patient Compliance; D010865:Pilot Projects