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Successful treatment of drug-resistant status epilepticus in an adult patient with Mowat-Wilson syndrome: A case report

Mowat-Wilson syndrome (MWS) is a rare genetic disorder characterized by intellectual disability, distinctive facial features, epilepsy, and multiple anomalies caused by heterozygous loss-of-function mutations in the zinc finger E-box-binding homeobox-2 gene (ZEB2). Treatment choice is very important...

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Autores principales: Nosaki, Yasunobu, Ohyama, Ken, Watanabe, Maki, Yokoi, Takamasa, Kobayashi, Yosuke, Inaba, Mie, Wakamatsu, Nobuaki, Iwai, Katsushige
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7736901/
https://www.ncbi.nlm.nih.gov/pubmed/33344924
http://dx.doi.org/10.1016/j.ebr.2020.100410
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author Nosaki, Yasunobu
Ohyama, Ken
Watanabe, Maki
Yokoi, Takamasa
Kobayashi, Yosuke
Inaba, Mie
Wakamatsu, Nobuaki
Iwai, Katsushige
author_facet Nosaki, Yasunobu
Ohyama, Ken
Watanabe, Maki
Yokoi, Takamasa
Kobayashi, Yosuke
Inaba, Mie
Wakamatsu, Nobuaki
Iwai, Katsushige
author_sort Nosaki, Yasunobu
collection PubMed
description Mowat-Wilson syndrome (MWS) is a rare genetic disorder characterized by intellectual disability, distinctive facial features, epilepsy, and multiple anomalies caused by heterozygous loss-of-function mutations in the zinc finger E-box-binding homeobox-2 gene (ZEB2). Treatment choice is very important as patients with MWS because patients sometimes develop drug-resistant epilepsy. Here, we report the case of a 45-year-old male patient with MWS who developed drug-resistant status epilepticus after a 26-years seizure-free period while taking multiple anti-seizure medications. He showed a characteristic magnetic resonance imaging finding with a focal lesion in his left thalamic pulvinar nucleus, a finding not previously reported in status epilepticus with MWS. We succeeded in controlling seizures in the patient after trying multiple new antiseizure drug combinations. These findings indicate that patients with MWS may develop drug-resistant status epilepticus with age, even after a long-term seizure-free period, which can be managed with anti-seizure medication. Therefore, careful monitoring of seizures is important for the treatment of people with MWS, even in patients who have not experienced seizures for a long time.
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spelling pubmed-77369012020-12-18 Successful treatment of drug-resistant status epilepticus in an adult patient with Mowat-Wilson syndrome: A case report Nosaki, Yasunobu Ohyama, Ken Watanabe, Maki Yokoi, Takamasa Kobayashi, Yosuke Inaba, Mie Wakamatsu, Nobuaki Iwai, Katsushige Epilepsy Behav Rep Case Report Mowat-Wilson syndrome (MWS) is a rare genetic disorder characterized by intellectual disability, distinctive facial features, epilepsy, and multiple anomalies caused by heterozygous loss-of-function mutations in the zinc finger E-box-binding homeobox-2 gene (ZEB2). Treatment choice is very important as patients with MWS because patients sometimes develop drug-resistant epilepsy. Here, we report the case of a 45-year-old male patient with MWS who developed drug-resistant status epilepticus after a 26-years seizure-free period while taking multiple anti-seizure medications. He showed a characteristic magnetic resonance imaging finding with a focal lesion in his left thalamic pulvinar nucleus, a finding not previously reported in status epilepticus with MWS. We succeeded in controlling seizures in the patient after trying multiple new antiseizure drug combinations. These findings indicate that patients with MWS may develop drug-resistant status epilepticus with age, even after a long-term seizure-free period, which can be managed with anti-seizure medication. Therefore, careful monitoring of seizures is important for the treatment of people with MWS, even in patients who have not experienced seizures for a long time. Elsevier 2020-11-25 /pmc/articles/PMC7736901/ /pubmed/33344924 http://dx.doi.org/10.1016/j.ebr.2020.100410 Text en © 2020 The Author(s) http://creativecommons.org/licenses/by-nc-nd/4.0/ This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Case Report
Nosaki, Yasunobu
Ohyama, Ken
Watanabe, Maki
Yokoi, Takamasa
Kobayashi, Yosuke
Inaba, Mie
Wakamatsu, Nobuaki
Iwai, Katsushige
Successful treatment of drug-resistant status epilepticus in an adult patient with Mowat-Wilson syndrome: A case report
title Successful treatment of drug-resistant status epilepticus in an adult patient with Mowat-Wilson syndrome: A case report
title_full Successful treatment of drug-resistant status epilepticus in an adult patient with Mowat-Wilson syndrome: A case report
title_fullStr Successful treatment of drug-resistant status epilepticus in an adult patient with Mowat-Wilson syndrome: A case report
title_full_unstemmed Successful treatment of drug-resistant status epilepticus in an adult patient with Mowat-Wilson syndrome: A case report
title_short Successful treatment of drug-resistant status epilepticus in an adult patient with Mowat-Wilson syndrome: A case report
title_sort successful treatment of drug-resistant status epilepticus in an adult patient with mowat-wilson syndrome: a case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7736901/
https://www.ncbi.nlm.nih.gov/pubmed/33344924
http://dx.doi.org/10.1016/j.ebr.2020.100410
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