一名亨内卡姆综合征患者轴内无症状病变的手术切除:病例报告与文献综述

IF 0.4 Q4 CLINICAL NEUROLOGY
John E. Dugan, E. Lesha, Camille Milton, Clifford Yudkoff, Taylor Orr, Alan D. Boom, L. M. Michael
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引用次数: 0

摘要

亨内卡姆综合征(Hennekam Syndrome,HS)是一种罕见的遗传性疾病,涉及淋巴系统畸形。中枢神经系统(CNS)结构异常和畸形以及智力障碍和发育迟缓也有报道。我们报告了一名因癫痫发作而就诊的 HS 患者,该患者被发现患有轴内病变,经开颅手术切除了病变。据我们所知,该病例是文献中首例通过神经外科干预治疗中枢神经系统异常的HS患者,同时我们还对HS患者的中枢神经系统病变进行了文献综述。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Surgical resection of a symptomatic intra‐axial lesion in a patient with Hennekam's syndrome: Case report with review of the literature
Hennekam syndrome (HS) is a rare genetic disorder involving malformations of the lymphatic system. Structural abnormalities and malformations within the central nervous system (CNS) have also been reported along with intellectual disability and developmental delay. We report a patient with HS who presented with seizures and was found to have an intra‐axial lesion, which was resected via craniotomy. While this case represents, to our knowledge, the first instance in the literature that a HS patient has been treated for a CNS abnormality via neurosurgical intervention, we provide a literature review of CNS lesions in patients with HS.
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CiteScore
0.80
自引率
0.00%
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76
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