恰里1型畸形伴环状肌瘫痪患者肌萎缩性脊髓侧索硬化症的表征:简要文献综述

M. Al-Zamil, N. G. Kulikova
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摘要

阿诺德-卡里畸形或卡里畸形(CM1)是一组后窝和后脑(小脑、脑桥和延髓)畸形的名称。这种疾病的发病基础与小脑扁桃体通过枕骨大孔疝出有关。CM1 属于罕见病。CM1 可表现出多种症状,也可表现为非特异性症状,因此在诊断和手术决策方面存在争议,尤其是对无症状或症状轻微者。鞘膜积液(Syr)、脑积水、颅颈不稳、颅脑损伤、脊柱侧弯、脊柱裂和脊柱发育不良是最常见的合并症,可能在诊断时出现或继发。鞘膜积液症并发 CM1(CM1 相关 Syr)的情况最受关注。脊髓和/或球部形成单个或多个充满液体的腔隙,这是由于大脑大体水平的形态异常导致正常脑脊液循环被破坏,从而引起颅内压脉冲式变化的结果。由于脊髓前角受损而导致的一种罕见疾病--肌萎缩性脊髓硬化症(ALS 综合征)也会使这种情况变得复杂。在这篇简短的文献综述中,我们试图证明脊髓脊膜膨出畸形伴脊髓空洞症患者肌萎缩侧索硬化症的平均致病基础。
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Phenocopy of Amyotrophic Lateral Sclerosis in Patients with Chiari 1 Malformation Associated Syringomyelia: Brief Literature Review
Arnold-Chiari malformation or Chiari malformation (CM1) is the name of a group of deformities of the posterior fossa and hindbrain (cerebellum, pons and medulla oblongata). The pathogenetic basis of this disease is associated with herniation of the cerebellar tonsils through the foramen magnum. CM1 is classified as a rare disease. CM1 can present with a wide variety of symptoms, also non-specific, with consequent controversies on diagnosis and surgical decision-making, particularly in asymptomatic or minimally symptomatic. Syringomyelia (Syr), hydrocephalus, craniocervical instability, encephalocele, scoliosis, spina bifida and spinal dysraphism are the most common comorbidities that may present at the time of diagnosis or develop secondarily. Most attention has been paid to syringomyelia complicated by CM1 (CM1-related Syr). Formation of single or multiple fluid-filled cavities in the spinal cord and/or bulb as a result of pulse changes in intracranial pressure associated with disruption of normal cerebrospinal fluid circulation due to morphological abnormalities of the brain at the magnum level. This condition can be complicated by a rarer disease caused by the development of damage to the anterior horns of the spinal cord - amyotrophic sclerosis (ALS syndrome). In this brief literature review we are trying to demonstrate the mean pathogenic basis of amyotrophic lateral sclerosis in patients with chiari 1 malformation associated syringomyelia.
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