تقرير
Surgical Resection of Focal Cortical Dysplasia in a Neonate with Novel TSC1 Mutation Leading to Resolution of Refractory Seizures: Case Report.
| العنوان: | Surgical Resection of Focal Cortical Dysplasia in a Neonate with Novel TSC1 Mutation Leading to Resolution of Refractory Seizures: Case Report. |
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| المؤلفون: | Garavatti E; Neurodevelopmental Disabilities, Oregon Health & Science University School of Medicine, Portland, OR, USA., Yamamoto E; Neurosurgery, Oregon Health & Science University School of Medicine, Portland, OR, USA., Collins K; Department of Neurosurgery, Oregon Health & Science University, Portland, OR, USA., Selden N; Department of Neurosurgery, Oregon Health & Science University, Portland, OR, USA., Bushlin I; Department of Pediatric Neurology, Oregon Health & Science University, Portland, OR, USA. |
| المصدر: | Child neurology open [Child Neurol Open] 2023 Dec 11; Vol. 10, pp. 2329048X231219223. Date of Electronic Publication: 2023 Dec 11 (Print Publication: 2023). |
| نوع المنشور: | Case Reports |
| اللغة: | English |
| بيانات الدورية: | Publisher: SAGE Publications Inc Country of Publication: United States NLM ID: 101691975 Publication Model: eCollection Cited Medium: Internet ISSN: 2329-048X (Electronic) Linking ISSN: 2329048X NLM ISO Abbreviation: Child Neurol Open Subsets: PubMed not MEDLINE |
| أسماء مطبوعة: | Original Publication: [Thousand Oaks, Calif.] : SAGE Publications Inc., [2014]-[2024] |
| مستخلص: | We describe a neonate presenting on first day of life with refractory seizures secondary to a single, large area of focal cortical dysplasia (FCD) who underwent surgical resection at age 3 weeks leading to resolution of seizure activity and dramatic improvement in developmental trajectory. Surgical intervention for epilepsy is infrequently offered for neonates, often reserved only for those with catastrophic presentations. This case demonstrates that surgical intervention can be safe and efficacious in neonates for pharmaco-resistant seizures associated with a focal lesion. Rapid whole exome sequencing in this case yielded a germline novel de novo TSC1 mutation, leading to a genetic diagnosis of tuberous sclerosis complex (TSC). Our patient demonstrates an atypical neonatal presentation of TSC. Limited data is available for those with isolated FCD in TSC; this is the first reported case in a neonate. Competing Interests: The author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article. (© The Author(s) 2023.) |
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| فهرسة مساهمة: | Keywords: epileptic encephalopathy; genetics; neonatal seizures; neonate; neurosurgery; refractory; seizures; surgery; tuberous sclerosis; tuberous sclerosis complex |
| تواريخ الأحداث: | Date Created: 20231218 Latest Revision: 20231219 |
| رمز التحديث: | 20231219 |
| مُعرف محوري في PubMed: | PMC10722926 |
| DOI: | 10.1177/2329048X231219223 |
| PMID: | 38107744 |
| قاعدة البيانات: | MEDLINE |
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