Literature DB >> 23340054

A girl with Cardio-facio-cutaneous syndrome complicated with status epilepticus and acute encephalopathy.

Keisuke Wakusawa1, Satoru Kobayashi2, Yu Abe3, Soichiro Tanaka2, Wakaba Endo2, Takehiko Inui2, Mitsutosi Iwaki4, Shuei Watanabe5, Noriko Togashi5, Takahiro Nara6, Tetsuya Niihori7, Yoko Aoki7, Kazuhiro Haginoya8.   

Abstract

We report a six-year-old girl with Cardio-facio-cutaneous (CFC) syndrome who developed acute encephalopathy after the recurrence of status epilepticus. While epileptic encephalopathy and severe epilepsy have been mentioned as frequent complications of the CFC syndrome, no previous reports have shown a case of the CFC syndrome complicated with acute encephalopathy. Here we discuss the possibility for the linkage between the development of acute encephalopathy and CFC syndrome which is generally susceptible to seizures or epilepsy.
Copyright © 2012 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

Entities:  

Keywords:  Acute encephalopathy; CFC syndrome; Status epilepticus

Mesh:

Year:  2013        PMID: 23340054     DOI: 10.1016/j.braindev.2012.12.007

Source DB:  PubMed          Journal:  Brain Dev        ISSN: 0387-7604            Impact factor:   1.961


  4 in total

1.  Epilepsy in a cohort of children with Noonan syndrome and related disorders.

Authors:  Chiara Davico; Rossella D'Alessandro; Marta Borgogno; Filippa Campagna; Francesca Torta; Federica Ricci; Federico Amianto; Roberta Vittorini; Diana Carli; Alessandro Mussa; Benedetto Vitiello; Giovanni Battista Ferrero
Journal:  Eur J Pediatr       Date:  2022-05-16       Impact factor: 3.860

2.  Epileptic spasms in PPP1CB-associated Noonan-like syndrome: a case report with clinical and therapeutic implications.

Authors:  Chien-Heng Lin; Wei-De Lin; I-Ching Chou; Inn-Chi Lee; Hueng-Chuen Fan; Syuan-Yu Hong
Journal:  BMC Neurol       Date:  2018-09-20       Impact factor: 2.474

3.  Brain structural changes in patients with cardio-facio-cutaneous syndrome: effects of BRAF gene mutation and epilepsy on brain development. A case-control study by quantitative magnetic resonance imaging.

Authors:  Rosalinda Calandrelli; Fabio Pilato; Marco Panfili; Domenica Battaglia; Maria Luigia Gambardella; Cesare Colosimo
Journal:  Neuroradiology       Date:  2021-07-26       Impact factor: 2.804

4.  Epilepsy and BRAF Mutations: Phenotypes, Natural History and Genotype-Phenotype Correlations.

Authors:  Domenica I Battaglia; Maria Luigia Gambardella; Stefania Veltri; Ilaria Contaldo; Giovanni Chillemi; Chiara Veredice; Michela Quintiliani; Chiara Leoni; Roberta Onesimo; Tommaso Verdolotti; Francesca Clementina Radio; Diego Martinelli; Marina Trivisano; Nicola Specchio; Charlotte Dravet; Marco Tartaglia; Giuseppe Zampino
Journal:  Genes (Basel)       Date:  2021-08-26       Impact factor: 4.096

  4 in total

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