Die Encephalitis periaxialis diffusa

Schilder, Paul

doi:10.1007/bf01813381

Cited by 73 publications

(4 citation statements)

References 17 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Cases of “diffuse sclerosis” that resemble X-ALD were also described in 1899 by Ceni [11] and in 1910 by Haberfield and Spieler [12]. Shortly thereafter Schilder suggested that “diffuse sclerosis” was too vague and proposed a more accurate pathological classification of the leukodystrophies [13-15]. He described several cases with lesions in the cerebral white matter and perivascular inflammation that he named “encephalitis periaxialis diffusa”.…”

Section: Clinical Features Of X-aldmentioning

confidence: 99%

X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management

Engelen

Kemp

Visser

et al. 2012

Orphanet J Rare Dis

456

542

View full text Add to dashboard Cite

X-linked adrenoleukodystrophy (X-ALD) is the most common peroxisomal disorder. The disease is caused by mutations in the ABCD1 gene that encodes the peroxisomal membrane protein ALDP which is involved in the transmembrane transport of very long-chain fatty acids (VLCFA; ≥C22). A defect in ALDP results in elevated levels of VLCFA in plasma and tissues. The clinical spectrum in males with X-ALD ranges from isolated adrenocortical insufficiency and slowly progressive myelopathy to devastating cerebral demyelination. The majority of heterozygous females will develop symptoms by the age of 60 years. In individual patients the disease course remains unpredictable. This review focuses on the diagnosis and management of patients with X-ALD and provides a guideline for clinicians that encounter patients with this highly complex disorder.

show abstract

Section: Clinical Features Of X-aldmentioning

confidence: 99%

X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management

Engelen

Kemp

Visser

et al. 2012

Orphanet J Rare Dis

456

542

View full text Add to dashboard Cite

show abstract

“…This case ultimately would be described as the MDS variant of Schilder's disease. Eventually, however, many other demyelinating and even dysmyelinating diseases became loosely defined as varieties of Schilder's diffuse sclerosis [2], Schilder [5,6] himself fur ther confused the issue by later describing 2 additional cases in 1913 and 1924 which in fact were separate disor ders, ALD and subacute sclerosing panencephalitis. The confusion surrounding the many disorders was adressed by Poser and Van Bogeart [7] when they reviewed the his torical case reports and correctly diagnosed the specific disorders.…”

Section: Discussionmentioning

confidence: 99%

Myelinoclastic Diffuse Sclerosis Presenting as a Mass Lesion in a Child with Turner’s Syndrome

et al. 1995

View full text Add to dashboard Cite

A rare case of myelinoclastic diffuse sclerosis (MDS), occasionally referred to as Schilder’s disease, is reported in a child with Turner’s syndrome. The child originally presented with a 3-week history of nausea, vomiting and frontal headaches. Magnetic resonance imaging showed a large, contrast-enhancing, right frontal lobe mass which was ultimately resected uneventfully. Complete laboratory investigations and pathological evaluation of the resected specimen verified the case to be MDS. The clinical presentation, laboratory evaluation, imaging characteristics and diagnosis are discussed in this review of the disease. The importance of including demyelinating diseases in the differential diagnosis for newly discovered mass lesions in the pediatric population is underscored by this case.

show abstract

“…Readers interested in the history of neurology may appreciate to learn that Poser and Bogaert, in their seminal 1956 article on MDS (in which they pointed out that the cases described by Schilder in 1913 [46] and 1924 [47] rather represented instances of leukodystrophy and subacute sclerosing encephalitis) classified Devic’s NMO as a variant of Schilder’s MDS [48], thereby further contributing to nosological confusion. The only patient with MDS so far tested for serum AQP4-IgG, a highly specific marker of NMO, was negative for that marker [23] (a second patient was negative for CSF AQP4-IgG [49]; however, CSF is not the specimen of choice when it comes to testing for AQP4-IgG [50]).…”

Section: Discussionmentioning

confidence: 99%

Myelinoclastic diffuse sclerosis (Schilder’s disease) is immunologically distinct from multiple sclerosis: results from retrospective analysis of 92 lumbar punctures

Jarius

Haas

Paul

et al. 2019

J Neuroinflammation

View full text Add to dashboard Cite

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.

show abstract

Die Encephalitis periaxialis diffusa

Cited by 73 publications

References 17 publications

X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management

X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management

Myelinoclastic Diffuse Sclerosis Presenting as a Mass Lesion in a Child with Turner’s Syndrome

Myelinoclastic diffuse sclerosis (Schilder’s disease) is immunologically distinct from multiple sclerosis: results from retrospective analysis of 92 lumbar punctures

Contact Info

Product

Resources

About