Institut Chiari & Siringomielia & Escoliosis de Barcelona, Passeig Manuel Girona 16, 08034, Barcelona, Spain.
Anesthesia Department, CIMA Hospital, Barcelona, Spain.
BMC Neurol. 2020 May 11;20(1):175. doi: 10.1186/s12883-020-01743-y.
We propose two new concepts, the Filum Disease (FD) and the Neuro-cranio-vertebral syndrome (NCVS), that group together conditions thus far considered idiopathic, such as Arnold-Chiari Syndrome Type I (ACSI), Idiopathic Syringomyelia (ISM), Idiopathic Scoliosis (IS), Basilar Impression (BI), Platybasia (PTB) Retroflexed Odontoid (RO) and Brainstem Kinking (BSK).
We describe the symptomatology, the clinical course and the neurological signs of the new nosological entities as well as the changes visible on imaging studies in a series of 373 patients.
Our series included 72% women with a mean age of 33.66 years; 48% of the patients had an interval from onset to diagnosis longer than 10 years and 64% had a progressive clinical course. The commonest symptoms were: headache 84%, lumbosacral pain 72%, cervical pain 72%, balance alteration 72% and paresthesias 70%. The commonest neurological signs were: altered deep tendon reflexes in upper extremities 86%, altered deep tendon reflexes in lower extremities 82%, altered plantar reflexes 73%, decreased grip strength 70%, altered sensibility to temperature 69%, altered abdominal reflexes 68%, positive Mingazzini's test 66%, altered sensibility to touch 65% and deviation of the uvula and/or tongue 64%. The imaging features most often seen were: altered position of cerebellar tonsils 93%, low-lying Conus medullaris below the T12L1 disc 88%, idiopathic scoliosis 76%, multiple disc disease 72% and syringomyelic cavities 52%.
This is a paradigm shift that opens up new paths for research and broadens the range of therapeutics available to these patients.
我们提出了两个新概念，Filum 疾病（FD）和神经颅脊柱综合征（NCVS），将迄今为止被认为是特发性的病症，如 Arnold-Chiari 综合征 I 型（ACSI）、特发性脊髓空洞症（ISM）、特发性脊柱侧凸（IS）、颅底凹陷症（BI）、扁平颅底（PTB）、寰枢椎后弓反张（RO）和脑干扭曲（BSK），归类在一起。
我们描述了 373 例患者的新疾病实体的症状、临床病程和神经系统体征，以及影像学研究中可见的变化。
我们的系列研究包括 72%的女性，平均年龄为 33.66 岁；48%的患者从发病到诊断的间隔时间超过 10 年，64%的患者具有进行性临床病程。最常见的症状是：头痛 84%，腰骶部疼痛 72%，颈部疼痛 72%，平衡障碍 72%和感觉异常 70%。最常见的神经系统体征是：上肢深腱反射改变 86%，下肢深腱反射改变 82%，跖反射改变 73%，握力下降 70%，温度感觉改变 69%，腹部反射改变 68%，Mingazzini 试验阳性 66%，触觉改变 65%和悬雍垂和/或舌头偏斜 64%。最常见的影像学特征是：小脑扁桃体位置改变 93%，脊髓圆锥位于 T12L1 椎间盘以下低位 88%，特发性脊柱侧凸 76%，多节段椎间盘疾病 72%和脊髓空洞症腔 52%。
这是一个范式转变，为这些患者的研究开辟了新的途径，并扩大了可供选择的治疗方法的范围。
