Rivista di formazione e aggiornamento professionale del pediatra e del medico di base, fondata nel 1982. In collaborazione con l'Associazione Culturale Pediatri.
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Epilessia e sindrome di Moyamoya in bambino
con neurofibromatosi di tipo 1

Epilepsy and Moyamoya syndrome in a child with neurofibromatosis type 1

Pia Bernardo1, Mario Cirillo2, Roberto Militerni1, Bruno Nobili3, Silverio Perrotta3, Claudia Santoro3
1Dipartimento di Salute Mentale e Fisica e Medicina Preventiva, Neuropsichiatria Infantile; 2Dipartimento di Scienze Mediche, Chirurgiche, Neurologiche, Metaboliche e dell’Invecchiamento; 3Centro di Riferimento Regionale Pediatrico della Neurofibromatosi di tipo 1, Seconda Università di Napoli

Giugno 2015

Abstract
Seizures are present in numerous genetic diseases involving the nervous system. Neurofibromatosis type 1 (NF1), a RASopathy characterized by peripheral and central nervous system involvement, has been associated with a higher risk of epilepsy. Recently, new insights on prevalence of epilepsy in NF1 have been produced, showing as epilepsy is primarily associated with tumors of the central nervous system. This partially explains the increased prevalence in this genetic disorder. On the other hand the type, electroclinical features, and the pathogenesis of seizures associated with NF1 without tumors, are poorly characterized to date. The Authors present a case of symptomatic epilepsy in a child with NF1 that represents the clinical onset of a Moyamoya disease. The clinical as-pects, EEG and neuroimaging features, as well as therapeutic approach are also discussed.
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Parole chiave
Elettroencefalografia Epilessia Neurofibromatosi di tipo 1
Suggerite dall'AI
Electroencephalography Epilepsy
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Bibliografia


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