Diffuse myelinoclastic sclerosis

Diffuse myelinoclastic sclerosis, sometimes referred to as Schilder's disease, is a very infrequent neurodegenerative disease that presents clinically as pseudotumoural demyelinating lesions, making its diagnosis difficult. It usually begins in childhood, affecting children between 5 and 14 years old,[1][2] but cases in adults are also possible.[3]

Diffuse myelinoclastic sclerosis
Other namesDms
SpecialtyNeurology 

This disease is considered one of the borderline forms of multiple sclerosis because some authors consider them different diseases and others MS variants. Other diseases in this group are neuromyelitis optica (NMO), Balo concentric sclerosis and Marburg multiple sclerosis.[4]

Symptoms

Symptoms are similar to those in multiple sclerosis and may include dementia, aphasia, seizures, personality changes, poor attention, tremors, balance instability, incontinence, muscle weakness, headache, vomiting, and vision and speech impairment.[5]

Diagnostic

The Poser criteria for diagnosis are:[6]

  • One or two roughly symmetrical large plaques. Plaques are greater than 2 cm diameter.
  • No other lesions are present and there are no abnormalities of the peripheral nervous system.
  • Results of adrenal function studies and serum very long chain fatty acids are normal.
  • Pathological analysis is consistent with subacute or chronic myelinoclastic diffuse sclerosis.

Neuropathological examination

The typical demyelinating plaques in Schilder's sclerosis are usually found bilaterally in the semioval center; both hemispheres are almost completely occupied by large, well defined lesions. Although plaques of this kind are largely prevalent in Schilder's sclerosis, smaller lesions can also be observed.

Immunology

It has been reported that DMS cases show no oligoclonal bands, being therefore distinct from standard MS.[7]

Treatments

Management Corticosteroids may be effective in some patients. Additional treatment options are beta-interferon or immunosuppressive therapy. Otherwise management is supportive and includes physiotherapy, occupational therapy and nutritional support in the later stages as patients lose their ability to eat.

Prognosis

The prognosis of this disease is very variable and can take three different courses: a monophasic, not remitting;[2][8] remitting;[9][10][11] and finally, progressive, with increase in deficits.[12]

History

It was first described by Paul Ferdinand Schilder in 1912,[13][14] and for nearly one hundred years the term "Schilder disease" was used to describe it, but the same name was also used for some other white matter pathologies described by him.[15] In 1986 Poser tried to restrict the use of Schilder's disease name to the disease described here, but this name has still remained ambiguous.

The name comes from a traditional classification of demyelinating diseases in two groups: demyelinating myelinoclastic diseases and demyelinating leukodystrophic diseases. In the first group, a normal and healthy myelin is destroyed by a toxic, chemical, or autoimmune substance. In the second group, myelin is abnormal and degenerates.[16] The second group was denominated dysmyelinating diseases by Poser.[17]

References
  1. Garrido C, Levy-Gomes A, Teixeira J, Temudo T (2004). "[Schilder's disease: two new cases and a review of the literature]". Revista de Neurología (in Spanish). 39 (8): 734–8. doi:10.33588/rn.3908.2003023. PMID 15514902.
  2. Afifi AK, Bell WE, Menezes AH, Moore SA (1994). "Myelinoclastic diffuse sclerosis (Schilder's disease): report of a case and review of the literature". J. Child Neurol. 9 (4): 398–403. CiteSeerX 10.1.1.1007.559. doi:10.1177/088307389400900412. PMID 7822732. S2CID 38765870.
  3. Bacigaluppi, S; Polonara, G; Zavanone, ML; Campanella, R; Branca, V; Gaini, SM; Tredici, G; Costa, A (2009). "Schilder's disease: non-invasive diagnosis? :A case report and review". Neurological Sciences. 30 (5): 421–30. doi:10.1007/s10072-009-0113-z. PMID 19609739. S2CID 21649760.
  4. Fontaine B (2001). "[Borderline forms of multiple sclerosis]". Rev. Neurol. (Paris) (in French). 157 (8–9 Pt 2): 929–34. PMID 11787357.
  5. "NINDS Schilder's Disease Information Page". Archived from the original on 2009-09-23. Retrieved 2009-05-28.
  6. Poser CM, Goutières F, Carpentier MA, Aicardi J (1986). "Schilder's myelinoclastic diffuse sclerosis". Pediatrics. 77 (1): 107–12. PMID 3940347.
  7. S. Jarius et al. Myelinoclastic diffuse sclerosis (Schilder’s disease) is immunologically distinct from multiple sclerosis: results from retrospective analysis of 92 lumbar punctures, Journal of Neuroinflammation, 28 Feb. 2019, https://doi.org/10.1186/s12974-019-1425-4
  8. Pretorius ML, Loock DB, Ravenscroft A, Schoeman JF (1998). "Demyelinating disease of Schilder type in three young South African children: dramatic response to corticosteroids". J. Child Neurol. 13 (5): 197–201. doi:10.1177/088307389801300501. PMID 9620009. S2CID 33472806.
  9. de Lacour A, Guisado F, Zambrano A, Argente J, Acosta J, Ramos C (1998). "[Pseudotumor forms of demyelinating diseases. Report of three cases and review of the literature]". Revista de Neurología (in Spanish). 27 (160): 966–70. PMID 9951014.
  10. Leuzzi V, Lyon G, Cilio MR, Pedespan JM, Fontan D, Chateil JF, Vital A (1999). "Childhood demyelinating diseases with a prolonged remitting course and their relation to Schilder's disease: report of two cases". J. Neurol. Neurosurg. Psychiatry. 66 (3): 407–8. doi:10.1136/jnnp.66.3.407. PMC 1736247. PMID 10084548.
  11. Brunot E, Marcus JC (1999). "Multiple sclerosis presenting as a single mass lesion". Pediatr. Neurol. 20 (5): 383–6. doi:10.1016/S0887-8994(98)00164-7. PMID 10371386.
  12. Garell PC, Menezes AH, Baumbach G, Moore SA, Nelson G, Mathews K, Afifi AK (1998). "Presentation, management and follow-up of Schilder's disease". Pediatric Neurosurgery. 29 (2): 86–91. doi:10.1159/000028695. PMID 9792962. S2CID 46812200.
  13. synd/1554 at Who Named It?
  14. P. F. Schilder, Zur Kenntnis der sogenannten diffusen Sklerose (über Encephalitis periaxialis diffusa). Zeitschrift für die gesamte Neurologie und Psychiatrie, 1912, 10 Orig.: 1-60.
  15. Martin JJ, Guazzi GC (1991). "Schilder's diffuse sclerosis". Dev. Neurosci. 13 (4–5): 267–73. doi:10.1159/000112172. PMID 1817032.
  16. Fernández O.; Fernández V.E.; Guerrero M. (2015). "Demyelinating diseases of the central nervous system". Medicine. 11 (77): 4601–4609. doi:10.1016/j.med.2015.04.001.
  17. Poser C. M. (1961). "Leukodystrophy and the Concept of Dysmyelination". Arch Neurol. 4 (3): 323–332. doi:10.1001/archneur.1961.00450090089013. PMID 13737358.
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