title: Posterior glucose hypometabolism in Lafora disease: early and late FDG-PET assessment.
abstract: 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.
authors.affiliation: Service de Neurologie, Centre Hospitalier Universitaire de Nancy, Nancy, France.
authors.forename: Melanie
authors.initials: M
authors.lastname: Jennesson
authors.forename: Mathieu
authors.initials: M
authors.lastname: Milh
authors.forename: Nathalie
authors.initials: N
authors.lastname: Villeneuve
authors.forename: Eric
authors.initials: E
authors.lastname: Guedj
authors.forename: Pierre-Yves
authors.initials: PY
authors.lastname: Marie
authors.forename: Jean-Pierre
authors.initials: JP
authors.lastname: Vignal
authors.forename: Emmanuel
authors.initials: E
authors.lastname: Raffo
authors.forename: Hervé
authors.initials: H
authors.lastname: Vespignani
authors.forename: Josette
authors.initials: J
authors.lastname: Mancini
authors.forename: Louis
authors.initials: L
authors.lastname: Maillard
mesh_terms: D000293:Adolescent; D001706:Biopsy; D001786:Blood Glucose / Q000378:metabolism*; D001921:Brain / Q000000981:diagnostic imaging; D002352:Carrier Proteins / Q000235:genetics; D002540:Cerebral Cortex / Q000000981:diagnostic imaging; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D018450:Disease Progression; D004292:Dominance, Cerebral / Q000502:physiology; D004569:Electroencephalography; D004734:Energy Metabolism / Q000502:physiology*; D004830:Epilepsy, Tonic-Clonic / Q000000981:diagnostic imaging* / Q000473:pathology; D005260:Female; D019788:Fluorodeoxyglucose F18; D006580:Genetic Carrier Screening; D006801:Humans; D007091:Image Processing, Computer-Assisted; D020192:Lafora Disease / Q000000981:diagnostic imaging* / Q000473:pathology; D009778:Occipital Lobe / Q000000981:diagnostic imaging*; D049268:Positron-Emission Tomography; D012815:Signal Processing, Computer-Assisted; D012867:Skin / Q000473:pathology; D014057:Tomography, X-Ray Computed; D044767:Ubiquitin-Protein Ligases
chemical_list: D001786:Blood Glucose; D002352:Carrier Proteins; D019788:Fluorodeoxyglucose F18; C478960:NHLRC1 protein, human; D044767:Ubiquitin-Protein Ligases