Posterior glucose hypometabolism in Lafora disease: early and late FDG-PET assessment.
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.
Jennesson
Melanie
M
Service de Neurologie, Centre Hospitalier Universitaire de Nancy, Nancy, France.
Milh
Mathieu
M
Villeneuve
Nathalie
N
Guedj
Eric
E
Marie
Pierre-Yves
PY
Vignal
Jean-Pierre
JP
Raffo
Emmanuel
E
Vespignani
Hervé
H
Mancini
Josette
J
Maillard
Louis
L
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
D001786:Blood Glucose; D002352:Carrier Proteins; D019788:Fluorodeoxyglucose F18; C478960:NHLRC1 protein, human; D044767:Ubiquitin-Protein Ligases