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Seizures in children with neurofibromatosis type 1: is neurofibromatosis type 1 enough?

BACKGROUND: Neurofibromatosis type 1 (NF1) is related to a generally increased prevalence of seizures. The mechanism underlying the increased predisposition to seizures has not been fully elucidated. The aim of the study was to evaluate the role of NF1 in seizures pathogenesis in a cohort of childre...

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Autores principales: Santoro, Claudia, Bernardo, Pia, Coppola, Antonietta, Pugliese, Umberto, Cirillo, Mario, Giugliano, Teresa, Piluso, Giulio, Cinalli, Giuseppe, Striano, Salvatore, Bravaccio, Carmela, Perrotta, Silverio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
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Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5863905/
https://www.ncbi.nlm.nih.gov/pubmed/29566708
http://dx.doi.org/10.1186/s13052-018-0477-x
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author Santoro, Claudia
Bernardo, Pia
Coppola, Antonietta
Pugliese, Umberto
Cirillo, Mario
Giugliano, Teresa
Piluso, Giulio
Cinalli, Giuseppe
Striano, Salvatore
Bravaccio, Carmela
Perrotta, Silverio
author_facet Santoro, Claudia
Bernardo, Pia
Coppola, Antonietta
Pugliese, Umberto
Cirillo, Mario
Giugliano, Teresa
Piluso, Giulio
Cinalli, Giuseppe
Striano, Salvatore
Bravaccio, Carmela
Perrotta, Silverio
author_sort Santoro, Claudia
collection PubMed
description BACKGROUND: Neurofibromatosis type 1 (NF1) is related to a generally increased prevalence of seizures. The mechanism underlying the increased predisposition to seizures has not been fully elucidated. The aim of the study was to evaluate the role of NF1 in seizures pathogenesis in a cohort of children with NF1 and seizures. METHODS: The medical records of 437 children (0–18 years old) with NF1 were reviewed. All children with at least one afebrile seizure were included. Demographic, clinical, neurological, NF1 mutation status, and EEG data were collected along with brain magnetic resonance imaging. Depending on etiology, structural seizures have been identified and were further classified as NF1 related or not. RESULTS: Nineteen patients (4.3%; 13 males) were included. NF1 was inherited in 7 (37.5%), with 3 maternal forms. Ten children with structural seizures were identified. Seven forms were identified someway related to NF1, two of which were associated to 17q11.2 microdeletion and hypoxic-ischemic encephalopathy. Any brain lesion that could explain seizures was found in nine patients, two third of these patients had a familiar history of epilepsy. CONCLUSIONS: Our results suggest seizures are more frequent in NF1 children (4.3%) than in general pediatric population (0.3–0.5%) and that are someway related to NF1 in half of patients. Facing seizures in NF1, the clinician should first exclude brain tumors but also other, and rarer NF1-related scenarios, such as hydrocephalous and vasculopathies. Children with non-structural seizures frequently had a family history of epilepsy, raising questions about the pathogenic role of NF1. They should be approached as for the general population.
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spelling pubmed-58639052018-03-27 Seizures in children with neurofibromatosis type 1: is neurofibromatosis type 1 enough? Santoro, Claudia Bernardo, Pia Coppola, Antonietta Pugliese, Umberto Cirillo, Mario Giugliano, Teresa Piluso, Giulio Cinalli, Giuseppe Striano, Salvatore Bravaccio, Carmela Perrotta, Silverio Ital J Pediatr Research BACKGROUND: Neurofibromatosis type 1 (NF1) is related to a generally increased prevalence of seizures. The mechanism underlying the increased predisposition to seizures has not been fully elucidated. The aim of the study was to evaluate the role of NF1 in seizures pathogenesis in a cohort of children with NF1 and seizures. METHODS: The medical records of 437 children (0–18 years old) with NF1 were reviewed. All children with at least one afebrile seizure were included. Demographic, clinical, neurological, NF1 mutation status, and EEG data were collected along with brain magnetic resonance imaging. Depending on etiology, structural seizures have been identified and were further classified as NF1 related or not. RESULTS: Nineteen patients (4.3%; 13 males) were included. NF1 was inherited in 7 (37.5%), with 3 maternal forms. Ten children with structural seizures were identified. Seven forms were identified someway related to NF1, two of which were associated to 17q11.2 microdeletion and hypoxic-ischemic encephalopathy. Any brain lesion that could explain seizures was found in nine patients, two third of these patients had a familiar history of epilepsy. CONCLUSIONS: Our results suggest seizures are more frequent in NF1 children (4.3%) than in general pediatric population (0.3–0.5%) and that are someway related to NF1 in half of patients. Facing seizures in NF1, the clinician should first exclude brain tumors but also other, and rarer NF1-related scenarios, such as hydrocephalous and vasculopathies. Children with non-structural seizures frequently had a family history of epilepsy, raising questions about the pathogenic role of NF1. They should be approached as for the general population. BioMed Central 2018-03-22 /pmc/articles/PMC5863905/ /pubmed/29566708 http://dx.doi.org/10.1186/s13052-018-0477-x Text en © The Author(s). 2018 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
spellingShingle Research
Santoro, Claudia
Bernardo, Pia
Coppola, Antonietta
Pugliese, Umberto
Cirillo, Mario
Giugliano, Teresa
Piluso, Giulio
Cinalli, Giuseppe
Striano, Salvatore
Bravaccio, Carmela
Perrotta, Silverio
Seizures in children with neurofibromatosis type 1: is neurofibromatosis type 1 enough?
title Seizures in children with neurofibromatosis type 1: is neurofibromatosis type 1 enough?
title_full Seizures in children with neurofibromatosis type 1: is neurofibromatosis type 1 enough?
title_fullStr Seizures in children with neurofibromatosis type 1: is neurofibromatosis type 1 enough?
title_full_unstemmed Seizures in children with neurofibromatosis type 1: is neurofibromatosis type 1 enough?
title_short Seizures in children with neurofibromatosis type 1: is neurofibromatosis type 1 enough?
title_sort seizures in children with neurofibromatosis type 1: is neurofibromatosis type 1 enough?
topic Research
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5863905/
https://www.ncbi.nlm.nih.gov/pubmed/29566708
http://dx.doi.org/10.1186/s13052-018-0477-x
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