title: Complex epileptic (Foix-Chavany-Marie like) syndrome in a child with neurofibromatosis type 1 (NF1) and bilateral (opercular and paracentral) polymicrogyria.
abstract: The association of brain malformations and symptomatic epilepsy in the setting of neurofibromatosis type 1 (NF1) is rarely reported. When it occurs, patients can present clinically with infantile spasms, focal seizures, generalized tonic clonic seizures or atypical absences. We report on a 10-year-old (molecularly proven) NF1 girl manifesting a complex epileptic syndrome resembling the Foix-Chavany-Marie spectrum (also known as opercular syndrome) associated with bilateral (opercular and paracentral lobular) polymicrogyria (PMG). Anecdotal cases of unilateral PMG in the setting of NF1 have been described in association with other-than-opercular epileptic syndromes. The typical clinical opercular syndrome consisting in mild mental retardation, epilepsy and pseudobulbar palsy is usually associated to bilateral perisylvian PMG (BPP) CONCLUSION: To the best of our knowledge, the complex epileptic syndrome hereby reported has not been previously recorded in the setting of NF1. In addition, the present girl manifested all the clinical features of an opercular syndrome but had an asymmetrical PMG (not a BPP).
authors.affiliation: Department of Pediatrics, Division of Child Neurology, University La Sapienza, Rome, Italy.
authors.forename: Mario
authors.initials: M
authors.lastname: Mastrangelo
authors.forename: Rosanna
authors.initials: R
authors.lastname: Mariani
authors.forename: Alberto
authors.initials: A
authors.lastname: Spalice
authors.forename: Martino
authors.initials: M
authors.lastname: Ruggieri
authors.forename: Paola
authors.initials: P
authors.lastname: Iannetti
mesh_terms: D001921:Brain / Q000473:pathology; D002648:Child; D015897:Comorbidity; D003680:Deglutition Disorders; D004569:Electroencephalography; D017034:Epilepsy, Frontal Lobe / Q000175:diagnosis*; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D054220:Malformations of Cortical Development / Q000175:diagnosis*; D009456:Neurofibromatosis 1 / Q000175:diagnosis*; D013577:Syndrome