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Posterior glucose hypometabolism in Lafora disease: Early and late FDG‐PET assessment
Author(s) -
Jennesson Melanie,
Milh Mathieu,
Villeneuve Nathalie,
Guedj Eric,
Marie PierreYves,
Vignal JeanPierre,
Raffo Emmanuel,
Vespignani Hervé,
Mancini Josette,
Maillard Louis
Publication year - 2010
Publication title -
epilepsia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.687
H-Index - 191
eISSN - 1528-1167
pISSN - 0013-9580
DOI - 10.1111/j.1528-1167.2009.02498.x
Subject(s) - myoclonus , progressive myoclonus epilepsy , epilepsy , positron emission tomography , medicine , lafora disease , disease , central nervous system disease , electroencephalography , myoclonic epilepsy , psychology , pathology , pediatrics , neuroscience , radiology , anesthesia , psychiatry , biology , biochemistry , phosphorylation , phosphatase
Summary 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, [18]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.