Molecular Neuroimmunology Group, Department of Neurology, University of Heidelberg, Heidelberg, Germany.
NeuroCure Clinical Research Center, Charité - Universitätsmedizin Berlin, Berlin, Germany.
J Neuroinflammation. 2019 Feb 28;16(1):51. doi: 10.1186/s12974-019-1425-4.
Myelinoclastic diffuse sclerosis (MDS; also termed Schilder's disease) is a rare inflammatory demyelinating disorder of the central nervous system characterised by demyelination of vast areas of the white matter. It is unclear whether MDS is a variant of multiple sclerosis (MS) or a disease entity in its own right.
To compare the cerebrospinal fluid (CSF) features of MDS with those of MS.
Retrospective analysis of the CSF profile of all patients with MDS reported in the medical literature between 1960 and 2018.
The most striking finding was a substantial lack of oligoclonal bands (OCBs) in MDS, which were absent in at least 77% (30/39) of all lumbar punctures (LP) in the total cohort and in 86% in the subgroup of patients with normal very long-chain fatty acid serum ratios (VLCFA). Almost all cases published in the past 15 years were negative for OCBs. These findings are in contrast to MS, in which OCBs are present in up to 98% of cases (p < 0.00001 when compared with reference works in MS; both in adult and in pediatric patients). CSF pleocytosis was absent in at least 79% (46/58) of all LP (p < 0.0001 vs. MS) and in 92% (24/26) of LPs in the VLCFA-tested subgroup. CSF total protein levels were elevated in 56% of all LPs (p < 0.0001 vs. MS) and in 63% of LPs in the VLCFA-tested subgroup and were often higher than in typical MS (> 100 mg/dL in 13/22; up to 220 mg/dL). EBV serum antibodies, which are present in virtually all patients with MS, and the so-called MRZ (measles/rubella/zoster) reaction, a highly specific marker of MS, were absent in all of the few patients tested. In addition, we discuss further differences between MS and MDS, taking into account also Schilder's original comprehensive case description from 1912.
In the majority of patients diagnosed with MDS, CSF features differ significantly from those typically found in MS and are more similar to those previously reported in patients with myelin oligodendrocyte glycoprotein-immunoglobulin G (IgG)-positive encephalomyelitis, aquaporin-4-IgG-positive neuromyelitis optica spectrum disorders or Baló's concentric sclerosis. Our data suggest that MDS and MS are immunopathologically distinct entities in the majority of cases.
脱髓鞘性弥漫性硬化症（MDS；也称为希尔德病）是一种罕见的中枢神经系统炎症性脱髓鞘疾病，其特征是白质的广泛脱髓鞘。目前尚不清楚 MDS 是否是多发性硬化症（MS）的一种变体，还是一种独立的疾病实体。
比较 MDS 与 MS 的脑脊液（CSF）特征。
对 1960 年至 2018 年间医学文献中报道的所有 MDS 患者的 CSF 谱进行回顾性分析。
最显著的发现是 MDS 中存在大量寡克隆带（OCB）缺失，在总队列中至少 77%（39 例中的 30 例）和亚组中正常极长链脂肪酸血清比值（VLCFA）的患者中 86%的 LP 中没有 OCB。过去 15 年发表的几乎所有病例均为 OCB 阴性。这些发现与 MS 形成对比，在 MS 中高达 98%的病例存在 OCB（与 MS 参考资料相比，p<0.00001；在成人和儿科患者中均如此）。CSF 白细胞增多在至少 79%（58 例中的 46 例）的 LP 中（p<0.0001 与 MS 相比）和亚组中 VLCFA 检测的 26 例 LP 中不存在。CSF 总蛋白水平升高见于 56%的 LP（p<0.0001 与 MS 相比）和亚组中 VLCFA 检测的 63%的 LP，且通常高于典型的 MS（13/22 例>100mg/dL；高达 220mg/dL）。几乎所有 MS 患者均存在 EBV 血清抗体，而所谓的 MRZ（麻疹/风疹/带状疱疹）反应是 MS 的高度特异性标志物，在所有接受检测的少数患者中均不存在。此外，我们还考虑了希尔德 1912 年的原始综合病例描述，讨论了 MS 和 MDS 之间的其他差异。
在大多数被诊断为 MDS 的患者中，CSF 特征与 MS 中常见的特征有很大不同，与之前报道的髓鞘少突胶质细胞糖蛋白-IgG 阳性的脑脊髓炎、水通道蛋白-4-IgG 阳性的视神经脊髓炎谱系疾病或 Baló 同心圆硬化患者的特征更相似。我们的数据表明，在大多数情况下，MDS 和 MS 是免疫病理学上不同的实体。
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