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Schilder's disease

Schilder's disease
Classification & external resources
ICD-9 341.1
OMIM 272100
DiseasesDB 11849
eMedicine neuro/92 
MeSH D002549
This article deals with the MS variant known as diffuse myelinoclastic sclerosis. For the leukodystrophy described by Paul Schilder and Thomas Addison, sometimes known as Schilder's disease, see Adrenoleukodystrophy

Schilder's disease or diffuse myelinoclastic sclerosis is a a very infrequent neurodegenerative disease that presents clinically as pseudotumoural demyelinating lesions, that make its diagnosis difficult. It presents adrenal atrophy and diffuse cerebral demyelination. It usually begins in childhood, affecting children between 5 and 14 years old.[1][2]

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[3].



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.[4]


The Poser criteria for diagnosis are:[5]

  • 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.

Prognosis and clinical course

The prognosis of this disease is very variable and can take three different courses: a monofasic, not remitting; [6] [7], remitting;[8] [9] [10] and finally, progressive, with increase in deficits.[11]


Management Corticosteroids may be effective in some patients. Otherwise management in supportive and includes physiotherapy, occupational therapy and nutritional support in the later stages


It was first described by Paul Ferdinand Schilder in 1912,[12][13] and for a hundred years the term was used to describe also the other white matter pathologies described by him[14]. In 1986 Poser restricted its use to the disease described here.


  1. ^ Garrido C, Levy-Gomes A, Teixeira J, Temudo T (2004). "[Schilder's disease: two new cases and a review of the literature]" (in Spanish). Revista de neurologia 39 (8): 734-8. 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. PMID 7822732.
  3. ^ Fontaine B (2001). "[Borderline forms of multiple sclerosis]" (in French). Rev. Neurol. (Paris) 157 (8-9 Pt 2): 929-34. PMID 11787357.
  4. ^ NINDS Schilder's Disease Information Page [1]
  5. ^ Poser CM, Goutières F, Carpentier MA, Aicardi J (1986). "Schilder's myelinoclastic diffuse sclerosis". Pediatrics 77 (1): 107-12. PMID 3940347.
  6. ^ 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. PMID 7822732.
  7. ^ 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. PMID 9620009.
  8. ^ 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]" (in Spanish; Castilian). Revista de neurologia 27 (160): 966-70. PMID 9951014.
  9. ^ 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. Psychiatr. 66 (3): 407-8. PMID 10084548.
  10. ^ Brunot E, Marcus JC (1999). "Multiple sclerosis presenting as a single mass lesion". Pediatr. Neurol. 20 (5): 383-6. PMID 10371386.
  11. ^ 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. PMID 9792962.
  12. ^ synd/1554 at Who Named It
  13. ^ 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.
  14. ^ Martin JJ, Guazzi GC (1991). "Schilder's diffuse sclerosis". Dev. Neurosci. 13 (4-5): 267-73. PMID 1817032.

See also

  • WebMD - Schilder's Disease
  • schilders at NINDS
This article is licensed under the GNU Free Documentation License. It uses material from the Wikipedia article "Schilder's_disease". A list of authors is available in Wikipedia.
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