侧脑膜膨出综合征(LMS)是一种罕见的遗传性结缔组织疾病,与脑膜膨出相关的神经功能障碍有关。已经报道了一些患有LMS的患者。但是,LMS筛查和治疗指南尚未建立.
我们在文章中回顾了LMS的当前知识。然后,我们描述了一个男孩,他的基因组分析使我们能够做出LMS的诊断,并开始监测他的病情,以了解可能的神经系统并发症。
仅根据临床表现很难对LMS进行诊断。需要更好地定义LMS患者硬膜扩张的自然史,以确定手术适应症。根据目前的文献,脑室-腹膜分流术(V-Ps)已被推荐为有症状的胸腰椎脑膜膨出患者的一线手术治疗选择。
Lateral meningocele syndrome (LMS) is a rare genetic connective tissue disorder which is associated with meningocele-related neurologic dysfunction. Several patients with LMS have been reported. But, guidelines for screening and treatment of LMS have not been established.
We review the current knowledge of LMS in the article. Then, we describe a boy for whom a genomic analysis which allowed us to make a diagnosis of LMS and to begin monitoring of his condition for possible neurological complications.
It would be difficult to make a diagnosis of LMS on the basis of clinical manifestations alone. The natural history of dural ectasia in patients with LMS needs to be better defined to establish surgical indications. Based upon the current literature, ventriculoperitoneal shunting (V-Ps) has been recommended as the first-line surgical treatment option for patients with symptomatic thoracolumbar meningoceles.