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

التفاصيل البيبلوغرافية
العنوان: Successful treatment of drug-resistant status epilepticus in an adult patient with Mowat-Wilson syndrome: A case report.
المؤلفون: Nosaki Y; Department of Neurology, Toyohashi Municipal Hospital, Toyohashi, Japan., Ohyama K; Department of Neurology, Toyohashi Municipal Hospital, Toyohashi, Japan., Watanabe M; Department of Neurology, Toyohashi Municipal Hospital, Toyohashi, Japan., Yokoi T; Department of Neurology, Toyohashi Municipal Hospital, Toyohashi, Japan., Kobayashi Y; Department of Neurology, Toyohashi Municipal Hospital, Toyohashi, Japan., Inaba M; Department of Pediatrics, Aichi Developmental Disability Center Central Hospital, Kasugai, Japan., Wakamatsu N; Department of Neurology, Takamatsu Municipal Hospital, Takamatsu, Japan., Iwai K; Department of Neurology, Toyohashi Municipal Hospital, Toyohashi, Japan.
المصدر: Epilepsy & behavior reports [Epilepsy Behav Rep] 2020 Nov 25; Vol. 14, pp. 100410. Date of Electronic Publication: 2020 Nov 25 (Print Publication: 2020).
نوع المنشور: Case Reports
اللغة: English
بيانات الدورية: Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101750909 Publication Model: eCollection Cited Medium: Internet ISSN: 2589-9864 (Electronic) Linking ISSN: 25899864 NLM ISO Abbreviation: Epilepsy Behav Rep Subsets: PubMed not MEDLINE
أسماء مطبوعة: Original Publication: [New York] : Elsevier Inc., [2019]-
مستخلص: 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.
(© 2020 The Author(s).)
References: Nat Genet. 2001 Apr;27(4):369-70. (PMID: 11279515)
Neuron. 2013 Jan 9;77(1):83-98. (PMID: 23312518)
Cochrane Database Syst Rev. 2018 Oct 18;10:CD001416. (PMID: 30335200)
Genet Med. 2018 Sep;20(9):965-975. (PMID: 29300384)
Philos Trans R Soc Lond B Biol Sci. 2003 Oct 29;358(1438):1605-24. (PMID: 14561322)
Clin Neurophysiol. 2004 Jan;115(1):50-8. (PMID: 14706468)
Epilepsia. 2004;45 Suppl 4:72-7. (PMID: 15281962)
Epilepsia. 2013 Jul;54(7):1331-2. (PMID: 23815573)
Epilepsia. 2009 Jan;50 Suppl 1:45-52. (PMID: 19125848)
J Neurol Neurosurg Psychiatry. 1994 Apr;57(4):503. (PMID: 8164005)
J Med Genet. 1998 Aug;35(8):617-23. (PMID: 9719364)
JAMA Neurol. 2018 Mar 1;75(3):279-286. (PMID: 29279892)
Genet Med. 2017 Jun;19(6):691-700. (PMID: 27831545)
J Neuroradiol. 2014 Oct;41(4):220-6. (PMID: 24485898)
Neuron. 2013 Jan 9;77(1):70-82. (PMID: 23312517)
Am J Med Genet A. 2013 Feb;161A(2):273-84. (PMID: 23322667)
J Neurochem. 2001 Jan;76(2):582-93. (PMID: 11208921)
Front Neurol. 2019 Apr 26;10:427. (PMID: 31105639)
Epilepsia. 2018 Oct;59 Suppl 2:120-127. (PMID: 30129213)
Seizure. 2013 Jun;22(5):333-44. (PMID: 23583115)
فهرسة مساهمة: Keywords: Anti-seizure drugs; Convulsive status epilepticus; Drug-resistant; Magnetic resonance imaging; Mowat-Wilson syndrome; ZEB2
تواريخ الأحداث: Date Created: 20201221 Latest Revision: 20201222
رمز التحديث: 20231215
مُعرف محوري في PubMed: PMC7736901
DOI: 10.1016/j.ebr.2020.100410
PMID: 33344924
قاعدة البيانات: MEDLINE
الوصف
تدمد:2589-9864
DOI:10.1016/j.ebr.2020.100410