Posterior glucose hypometabolism in Lafora disease: Early and late FDG-PET assessment
Article first published online: 12 FEB 2010
Wiley Periodicals, Inc. © 2010 International League Against Epilepsy
Volume 51, Issue 4, pages 708–711, April 2010
How to Cite
Jennesson, M., Milh, M., Villeneuve, N., Guedj, E., Marie, P.-Y., Vignal, J.-P., Raffo, E., Vespignani, H., Mancini, J. and Maillard, L. (2010), Posterior glucose hypometabolism in Lafora disease: Early and late FDG-PET assessment. Epilepsia, 51: 708–711. doi: 10.1111/j.1528-1167.2009.02498.x
- Issue published online: 1 APR 2010
- Article first published online: 12 FEB 2010
- Accepted November 26, 2009; Early View publication February 12, 2010.
- Lafora disease;
- Myoclonic progressive epilepsy;
- Visual agnosia;
- FDG-PET scan;
- Occipital lobe;
Establishing an early diagnosis of Lafora disease (LD) is often challenging. We describe two cases of LD presenting as myoclonus and tonic–clonic seizures, initially suggesting idiopathic generalized epilepsy. The subsequent course of the disease was characterized by drug-resistant myoclonic epilepsy, cognitive decline, and visual symptoms, which oriented the diagnosis toward progressive myoclonic epilepsy and, more specifically, LD. Early in the evolution in the first case, and before histopathologic and genetic confirmation of LD in both cases, Fluorodeoxyglucose positron emission tomography (FDG-PET) revealed posterior hypometabolism, consistent with the well-known posterior impairment in this disease. This suggests that FDG-PET could help to differentiate LD in early stages from other progressive myoclonic epilepsies, but confirmation is required by a longitudinal study of FDG-PET in progressive myoclonic epilepsy.