Myelinoclastic diffuse sclerosis (Schilder’s disease) is immunologically distinct from multiple sclerosis: results from retrospective analysis of 92 lumbar punctures
Abstract Background 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) o...
| Main Authors: | , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
BMC
2019-02-01
|
| Series: | Journal of Neuroinflammation |
| Subjects: | |
| Online Access: | http://link.springer.com/article/10.1186/s12974-019-1425-4 |
| _version_ | 1818502840141742080 |
|---|---|
| author | S. Jarius J. Haas F. Paul B. Wildemann |
| author_facet | S. Jarius J. Haas F. Paul B. Wildemann |
| author_sort | S. Jarius |
| collection | DOAJ |
| description | Abstract Background 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. Objective To compare the cerebrospinal fluid (CSF) features of MDS with those of MS. Methods Retrospective analysis of the CSF profile of all patients with MDS reported in the medical literature between 1960 and 2018. Results 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. Conclusion 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. |
| first_indexed | 2024-12-10T21:15:47Z |
| format | Article |
| id | doaj.art-4256c4e3460d4ce7951bc671579092ee |
| institution | Directory Open Access Journal |
| issn | 1742-2094 |
| language | English |
| last_indexed | 2024-12-10T21:15:47Z |
| publishDate | 2019-02-01 |
| publisher | BMC |
| record_format | Article |
| series | Journal of Neuroinflammation |
| spelling | doaj.art-4256c4e3460d4ce7951bc671579092ee2022-12-22T01:33:18ZengBMCJournal of Neuroinflammation1742-20942019-02-0116111410.1186/s12974-019-1425-4Myelinoclastic diffuse sclerosis (Schilder’s disease) is immunologically distinct from multiple sclerosis: results from retrospective analysis of 92 lumbar puncturesS. Jarius0J. Haas1F. Paul2B. Wildemann3Molecular Neuroimmunology Group, Department of Neurology, University of HeidelbergMolecular Neuroimmunology Group, Department of Neurology, University of HeidelbergNeuroCure Clinical Research Center, Charité – Universitätsmedizin BerlinMolecular Neuroimmunology Group, Department of Neurology, University of HeidelbergAbstract Background 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. Objective To compare the cerebrospinal fluid (CSF) features of MDS with those of MS. Methods Retrospective analysis of the CSF profile of all patients with MDS reported in the medical literature between 1960 and 2018. Results 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. Conclusion 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.http://link.springer.com/article/10.1186/s12974-019-1425-4Schilder’s diseaseMyelinoclastic diffuse sclerosisEncephalitis periaxialis SchilderMultiple sclerosisTumefactiveDemyelination |
| spellingShingle | S. Jarius J. Haas F. Paul B. Wildemann Myelinoclastic diffuse sclerosis (Schilder’s disease) is immunologically distinct from multiple sclerosis: results from retrospective analysis of 92 lumbar punctures Journal of Neuroinflammation Schilder’s disease Myelinoclastic diffuse sclerosis Encephalitis periaxialis Schilder Multiple sclerosis Tumefactive Demyelination |
| title | Myelinoclastic diffuse sclerosis (Schilder’s disease) is immunologically distinct from multiple sclerosis: results from retrospective analysis of 92 lumbar punctures |
| title_full | Myelinoclastic diffuse sclerosis (Schilder’s disease) is immunologically distinct from multiple sclerosis: results from retrospective analysis of 92 lumbar punctures |
| title_fullStr | Myelinoclastic diffuse sclerosis (Schilder’s disease) is immunologically distinct from multiple sclerosis: results from retrospective analysis of 92 lumbar punctures |
| title_full_unstemmed | Myelinoclastic diffuse sclerosis (Schilder’s disease) is immunologically distinct from multiple sclerosis: results from retrospective analysis of 92 lumbar punctures |
| title_short | Myelinoclastic diffuse sclerosis (Schilder’s disease) is immunologically distinct from multiple sclerosis: results from retrospective analysis of 92 lumbar punctures |
| title_sort | myelinoclastic diffuse sclerosis schilder s disease is immunologically distinct from multiple sclerosis results from retrospective analysis of 92 lumbar punctures |
| topic | Schilder’s disease Myelinoclastic diffuse sclerosis Encephalitis periaxialis Schilder Multiple sclerosis Tumefactive Demyelination |
| url | http://link.springer.com/article/10.1186/s12974-019-1425-4 |
| work_keys_str_mv | AT sjarius myelinoclasticdiffusesclerosisschildersdiseaseisimmunologicallydistinctfrommultiplesclerosisresultsfromretrospectiveanalysisof92lumbarpunctures AT jhaas myelinoclasticdiffusesclerosisschildersdiseaseisimmunologicallydistinctfrommultiplesclerosisresultsfromretrospectiveanalysisof92lumbarpunctures AT fpaul myelinoclasticdiffusesclerosisschildersdiseaseisimmunologicallydistinctfrommultiplesclerosisresultsfromretrospectiveanalysisof92lumbarpunctures AT bwildemann myelinoclasticdiffusesclerosisschildersdiseaseisimmunologicallydistinctfrommultiplesclerosisresultsfromretrospectiveanalysisof92lumbarpunctures |