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| LETTER TO EDITOR |
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| Year : 2013 | Volume
: 61
| Issue : 3 | Page : 306-307 |
Vagus nerve stimulation for drug-resistant epilepsy in a patient with Mowat-Wilson syndrome
Juan C Benedetti-Isaac1, Martín Torres-Zambrano1, Gabriel Alcalá-Cerra2, Juan J Gutiérrez-Paternina3
1 Deparment of Epilepsy Surgery, Foundation Colombian Center for Epilepsy ad Neurologic Diseases-FIRE, Cartagena de Indias, Colombia
2 Section of Neurosurgery, Universidad de Cartagena; Health Sciences and Neurosciences (CISNEURO) Research Group/Grupo de Investigación en Ciencias de la Saludy Neurociencias (CISNEURO), Cartagena de Indias, Colombia
3 Section of Neurosurgery, Universidad de Cartagena, Cartagena de Indias, Colombia
| Date of Submission | 11-Feb-2013 |
| Date of Decision | 11-Feb-2013 |
| Date of Acceptance | 07-Jun-2013 |
| Date of Web Publication | 16-Jul-2013 |
Correspondence Address:
Juan C Benedetti-Isaac
Deparment of Epilepsy Surgery, Foundation Colombian Center for Epilepsy ad Neurologic Diseases-FIRE, Cartagena de Indias
Colombia
 Source of Support: None, Conflict of Interest: None  | Check |
DOI: 10.4103/0028-3886.115074
How to cite this article:
Benedetti-Isaac JC, Torres-Zambrano M, Alcalá-Cerra G, Gutiérrez-Paternina JJ. Vagus nerve stimulation for drug-resistant epilepsy in a patient with Mowat-Wilson syndrome. Neurol India 2013;61:306-7 |
How to cite this URL:
Benedetti-Isaac JC, Torres-Zambrano M, Alcalá-Cerra G, Gutiérrez-Paternina JJ. Vagus nerve stimulation for drug-resistant epilepsy in a patient with Mowat-Wilson syndrome. Neurol India [serial online] 2013 [cited 2021 Mar 3];61:306-7. Available from: https://www.neurologyindia.com/text.asp?2013/61/3/306/115074 |
Sir,
Mowat-Wilson syndrome (MWS) is a genetic disease caused by heterozygous mutations or deletions of the ZEB2 gene at chromosome 2q21-q23. Clinically, it is characterized by typical face, moderate-to-severe mental retardation, epilepsy, and a wide spectrum of congenital malformations, including agenesis of the corpus callosum. [1] Until date, surgical management of drug-resistant epilepsy in these patients has not been described.
A 10-year-old female, a genetically proven case of MWS (karyotype 46XX, deletion 2q22.2q22.3), was referred for epilepsy surgery evaluation. She had rapidly generalized focal motor tonic seizures almost daily resistant to drug treatment with several drug combinations, including carbamazepine, valproic acid, topiramate, levetiracetam, lamotrigine, and oxcarbamazepine. Ictal and interictal scalp video-electroencephalogram findings suggested multiple bilateral epileptogenic foci [Figure 1]. Since resective surgery was not feasible, vagus nerve stimulator (VNS) implantation was offered. The procedure was carried out without complications, and after 1-year follow-up, seizure frequency reduced from eight daily to one bimonthly. | Figure 1: Neurophysiological abnormalities suggested multiple epileptogenic foci, predominantly over the right temporal and left temporal and frontal‑central regions
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Most patients with MWS have seizures or an abnormal EEG. [2] Cordelli et al., reported a prevalence of epilepsy of about 70-75% in patients with MWS. [3] Often, epilepsy is drug-resistant, and, to the best our knowledge, there are no reports about surgical management. [4] Patients with MWS often exhibit multifocal epilepsy, because of several structural abnormalities of brain, including hypocampal malformations, temporal dysplasias, and fronto-temporal hypoplasias. [2],[4]
In this patient, after neurophysiological assessment, it was not possible to localize a resectable epileptogenic focus, and, thus, only palliative surgical treatments were feasible like corpus callosotomy, VNS, and thalamic deep-brain stimulation. Corpus callosotomy appears to be a rational option for control generalized or rapidly generalizing seizures, given that all MWS patients have at least moderate mental retardation. However, this patient had corpus callosum agenesis, as 44% of patients with MWS, which impeded this procedure [Figure 2]. [5] Since thalamic deep-brain stimulation appears to be more risky than the implantation of a VNS, the latter seemed the most reasonable palliative surgery as its mid-term results as expected to be good. Although this case offers only limited experience on surgical treatment of drug-resistant epilepsy in patients with MWS, it provides a unique proof of potential usefulness of VNS therapy. | Figure 2: (a) Typical facial appearance of Mowat-Wilson syndrome. (b) Brain magnetic resonance imaging axial slice showing corpus callosum agenesis
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| » References | |  |
| 1. | Balasubramaniam S, Keng WT, Ngu LH, Michel LG, Irina G. Mowat-Wilson syndrome: The first two Malaysian cases. Singapore Med J 2010;51:54-7. 
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| 2. | Mowat DR, Wilson MJ, Goossens M. Mowat-Wilson syndrome. J Med Genet 2003;40:305-10.
[PUBMED] |
| 3. | Cordelli DM, Garavelli L, Savasta S, Guerra A, Pellicciari A, Giordano L, et al. Epilepsy in Mowat-Wilson syndrome: Delineation of the electroclinical phenotype. Am J Med Genet A 2013;161:273-84.
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| 4. | Adam MP, Schelley S, Gallagher R, Brady AN, Barr K, Blumberg B, et al. Clinical features and management issues in Mowat-Wilson syndrome. Am J Med Genet A 2006;140:2730-41.
[PUBMED] |
| 5. | Evans E, Einfeld S, Mowat D, Taffe J, Tonge B, Wilson M. The behavioral phenotype of Mowat-Wilson syndrome. Am J Med Genet A 2012;158:358-66.
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[Figure 1], [Figure 2]
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