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线性皮脂腺痣综合征患儿癫痫的皮质切除术

Cortical resection for epilepsy in children with linear sebaceous nevus syndrome.

作者信息

Maher Cormac O, Cohen-Gadol Aaron A, Raffel Corey

机构信息

Department of Neurosurgery, Mayo Clinic, Rochester, Minn., USA.

出版信息

Pediatr Neurosurg. 2003 Sep;39(3):129-35. doi: 10.1159/000071649.

DOI:10.1159/000071649
PMID:12876391
Abstract

Linear sebaceous nevus syndrome (LSNS) is a rare neurocutaneous syndrome that is associated with seizures and mental retardation. The cortical abnormalities that are associated with this syndrome include focal cortical dysplasia, partial hemimegalencephaly and holohemispheric hemimegalencephaly. Few reports have addressed the utility of cortical resections for epilepsy treatment in the setting of LSNS. We report 3 children with this syndrome who underwent extensive cortical resections and experienced significant improvement in seizure frequency. Our results support the utility of extensive cortical resections for children with this condition.

摘要

线性皮脂腺痣综合征(LSNS)是一种罕见的神经皮肤综合征,与癫痫发作和智力发育迟缓有关。与该综合征相关的皮质异常包括局灶性皮质发育不良、部分性半侧巨脑畸形和全脑性半侧巨脑畸形。很少有报告探讨在LSNS情况下皮质切除术对癫痫治疗的效用。我们报告了3例患有该综合征的儿童,他们接受了广泛的皮质切除术,癫痫发作频率显著改善。我们的结果支持对患有这种疾病的儿童进行广泛皮质切除术的效用。

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引用本文的文献

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The Role of KRAS Mutations in Cortical Malformation and Epilepsy Surgery: A Novel Report of Nevus Sebaceous Syndrome and Review of the Literature.KRAS 突变在皮质发育畸形和癫痫手术中的作用:皮脂腺痣综合征的新报告及文献综述
Brain Sci. 2021 Jun 16;11(6):793. doi: 10.3390/brainsci11060793.
2
KRAS G12D mosaic mutation in a Chinese linear nevus sebaceous syndrome infant.一名中国线性皮脂腺痣综合征婴儿中的KRAS G12D镶嵌突变。
BMC Med Genet. 2015 Oct 31;16:101. doi: 10.1186/s12881-015-0247-1.