Close
New

Medscape is available in 5 Language Editions – Choose your Edition here.

 

Diffuse Sclerosis Clinical Presentation

  • Author: Robert Stanley Rust, Jr, MD, MA; Chief Editor: Niranjan N Singh, MD, DM  more...
 
Updated: Apr 14, 2016
 

History

The diagnostic criteria established by Poser in 1985 require 6 elements:[5]

  1. One or 2 roughly symmetrical large plaques are manifest, and if more than 1 is present, 1 should be in each brain hemisphere, chiefly in the centrum semiovale. Plaques are greater than 2 cm in 2 of 3 dimensions.
  2. No other lesions are demonstrable by clinical, paraclinical, or imaging data.
  3. No abnormalities of the peripheral nervous system are demonstrable.
  4. Results of adrenal function studies are normal.
  5. Serum very long chain fatty acids are normal.
  6. Pathological analysis by autopsy or biopsy demonstrates histologic changes consistent with subacute or chronic myelinoclastic diffuse sclerosis, changes which in essence cannot be distinguished from those of multiple sclerosis.

To Poser's criteria could be added the currently available diagnostic tests for early childhood leukodystrophies such as Krabbe or metachromatic leukodystrophies.

Based upon the 9 cases that have satisfied Poser's criteria, the following statements can be made concerning the history that precedes clinical presentation of Schilder disease.

  • This apparently very rare illness arises more commonly in children than adults.
  • The onset of illness is typically subacute, although in some cases the onset is more abrupt and occurs in the wake of an infectious illness. Headache, malaise, and fevers of unclear etiology often precede the initial phases of illness.
Next

Physical

See the list below:

  • No features of the general examination are characteristic features of the presentation of Schilder disease. High fevers, constitutional symptoms, and fulminant initial course suggest such alternative diagnoses as encephalitis.
  • A wide variety of abnormalities may be found on neurologic examination.
    • Aphasia, memory disturbances, mental dullness, irritability, changes in personality, confusion, disorientation, and behavioral disturbances are not infrequently encountered. Patients may appear to be psychotic.
    • Deafness is common. Other brainstem or cerebellar deficits that are encountered include vertigo; paresis of eye movements, including internuclear ophthalmoplegia and nystagmus; facial palsy; dysarthria; or dysphagia.
    • Peripheral cranial nerve abnormalities that are sometimes encountered include optic neuritis and optic atrophy.
    • Cortical blindness is common, and various field cuts may be found, particularly hemianopsia. Hemiparesis or cortical sensory deficits may be found.
    • Seizures may occur but are not common. Some patients manifest psychosis.
    • Extrapyramidal manifestations are rare but have been described.
  • Findings of variable or uncertain localization include generalized spasticity and incontinence of bowel and bladder function.
  • Malnutrition and cachexia are commonly reported in the middle or late chronic stages of illness, especially in instances where patients fall to a low level of neurologic function such as a chronic vegetative state.
Previous
Next

Causes

The causes of Schilder disease, if it exists as an independent entity, are unknown. Although note evidence for a possible infectious illness at the onset of presumed Schilder disease, the significance of this observation remains unclear. In some reports, latency exists between this initial febrile illness and the subacute onset of Schilder disease. Some of these cases may be examples of acute disseminated encephalomyelitis. Other cases have a fulminant course without such clear distinction between prodrome and onset of the disease process thought to be Schilder disease. Many of these cases may be examples of encephalitis or some metabolic disorder.

Previous
 
 
Contributor Information and Disclosures
Author

Robert Stanley Rust, Jr, MD, MA Thomas E Worrell Jr Professor of Epileptology and Neurology, Co-Director of FE Dreifuss Child Neurology and Epilepsy Clinics, Director, Child Neurology, University of Virginia School of Medicine; Chair-Elect, Child Neurology Section, American Academy of Neurology

Robert Stanley Rust, Jr, MD, MA is a member of the following medical societies: Child Neurology Society, Society for Pediatric Research, American Headache Society, International Child Neurology Association, American Academy of Neurology, American Epilepsy Society, American Neurological Association

Disclosure: Nothing to disclose.

Specialty Editor Board

Francisco Talavera, PharmD, PhD Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Received salary from Medscape for employment. for: Medscape.

Chief Editor

Niranjan N Singh, MD, DM Associate Professor of Neurology, University of Missouri-Columbia School of Medicine

Niranjan N Singh, MD, DM is a member of the following medical societies: American Academy of Neurology, American Association of Neuromuscular and Electrodiagnostic Medicine, American Headache Society

Disclosure: Nothing to disclose.

Additional Contributors

William J Nowack, MD Associate Professor, Epilepsy Center, Department of Neurology, University of Kansas Medical Center

William J Nowack, MD is a member of the following medical societies: American Academy of Neurology, Biomedical Engineering Society, American Clinical Neurophysiology Society, American Epilepsy Society, EEG and Clinical Neuroscience Society, American Medical Informatics Association

Disclosure: Nothing to disclose.

References
  1. Schilder P. Zur Kenntnis der sogenannten diffusen Sklerose. Z Ges Neurol Psychiatr. 1912. 10:1-60.

  2. Karussis D. The diagnosis of multiple sclerosis and the various related demyelinating syndromes: a critical review. J Autoimmun. 2014 Feb-Mar. 48-49:134-42. [Medline].

  3. Schilder P. Zur Frage der Encephalitis periaxialis diffusa. Z Ges Neurol Psychiatr. 1913. 15:359-76.

  4. Schilder P. Die Encephalitis periaxialis diffusa. Arch Psychiatr. 1924. 71:327-356.

  5. Poser CM. Myelinoclastic diffuse sclerosis. Handbook of Clinical Neurology. New York, NY: American Elsevier; 1985. Vol 3: 419-428.

  6. Poser CM. Diffuse-disseminated sclerosis in the adult. J Neuropathol Exp Neurol. 1957. 16:61-78.

  7. Kraus D, Konen O, Straussberg R. Schilder's disease: Non-invasive diagnosis and successful treatment with human immunoglobulins. Eur J Paediatr Neurol. 2011 Sep 16. [Medline].

  8. Barbieri F, Filla A, Grossi D, Orefice G, Perretti A, Cirillo S, et al. Clinical and computerized tomographic study of a case of Schilder's disease. Acta Neurol (Napoli). 1982 Feb. 4(1):57-61. [Medline].

  9. Bielschowsky M, Henneberg R. Uber familiare diffuse Sklerose (Leukodystrophia cerebri progressiva hereditaria). J Psychol Neurol. 1928. 36:131-81.

  10. Cala LA, Mastaglia FL. Computerised tomography findings in multiple sclerosis and Schilder's disease. Clin Exp Neurol. 1977. 14:229-36. [Medline].

  11. Cotrufo R, Salvati G, Morcaldi L, Giordano GG, Guazzi GC. [What is Schilder's disease? Biological study of an unusual neuro-endocrine process]. Riv Patol Nerv Ment. 1968 Apr. 89(2):133-52. [Medline].

  12. Dupel-Pottier C. [Diagnostic criteria of borderline forms of multiple sclerosis]. Rev Neurol (Paris). 2001 Sep. 157(8-9 Pt 2):935-43. [Medline].

  13. Fernández-Jaén A, Martínez-Bermejo A, Gutiérrez-Molina M, López-Martín V, Tendero A, Arcas J, et al. [Schilder's diffuse myelinoclastic sclerosis]. Rev Neurol. 2001 Jul 1-15. 33(1):16-21. [Medline].

  14. Ferrer I, Fábregves I, Alvarez EF, Vila J. Schilder's disease. A study of the cerebral cortex with Golgi's method. Childs Brain. 1981. 8(4):294-8. [Medline].

  15. Fogli A, Schiffmann R, Bertini E. The effect of genotype on the natural history of eIF2B-related leukodystrophies. Neurology. 2004 May 11. 62(9):1509-17. [Medline].

  16. Foix C, Marie J. La sclerose cerebrale centrolobaire a tendance symetrique. Encephale. 1927. 22:81-126.

  17. Fontaine B. [Borderline forms of multiple sclerosis]. Rev Neurol (Paris). 2001 Sep. 157(8-9 Pt 2):929-34. [Medline].

  18. Haberfeld W, Spieler F. Zur diffusen Sklerose des Hirns und Ruckenmarks. Dtsch Z Nervenheilkd. 1910. 40:436-63.

  19. Heubner O. Uber diffuse Hirnsklerose. Charite-Ann. 1897. 22:298-310.

  20. Hogan EL, Joseph KC, Hurt JP, Krigman MR. Schilder's diffuse sclerosis: a biochemical and ultrastructural study of myelinoclastic demyelinaton. Acta Neuropathol. 1972. 20(2):85-95. [Medline].

  21. Iwanowski L, Jedrzejewska A, Dydyk L. [Transitional form of disseminated and diffuse sclerosis during the period of exacerbation]. Neuropatol Pol. 1972. 10(1):79-85. [Medline].

  22. Jankowski K. A case of Schilder's diffuse sclerosis diagnosed clinically schizophrenia. Acta Neuropathol. 1963. 2:302-305.

  23. Kotil K, Kalayci M, Köseoglu T, Tugrul A. Myelinoclastic diffuse sclerosis (Schilder's disease): report of a case and review of the literature. Br J Neurosurg. 2002 Oct. 16(5):516-9. [Medline].

  24. Kurul S, Cakmakçi H, Dirik E, Kovanlikaya A. Schilder's disease: case study with serial neuroimaging. J Child Neurol. 2003 Jan. 18(1):58-61. [Medline].

  25. Lhermitte F, Escourolle R, Hauw JJ, Gray F, Serdaru M, Lyon-Caen O. [Necrotic aspects of multiple sclerosis and Schilder's disease (author's transl)]. Rev Neurol (Paris). 1981. 137(10):589-600. [Medline].

  26. Lumsden CE. Fundamental problems i the pathology of multiple sclerosis and allied demyelinating diseases. Br Med J. 1951. 1:1035-1043.

  27. Marbrug O. Die sogenannte 'akute multiple Sklerose' (Encephalomyelitis periaxialis scleroticans). Jahrb Psychiatr Neurol. 1906. 27:211-312.

  28. Marie P, Foix C. Triplegie spasmodique, sclerose intracerebrale centrolobaire et symetrique. Rev Neurol. 1913. 21:346.

  29. Marks E, Miszczak J. [Case of late form of Schilder's disease]. Neurol Neurochir Pol. 1972 Mar-Apr. 6(2):301-3. [Medline].

  30. Miyagawa K, Ando S, Seino M, Murofushi K. [An autopsy case of inflammatory diffuse sclerosis (adult case of Schilder's disease)--clinicopathological study (author's transl)]. Seishin Shinkeigaku Zasshi. 1976 Dec. 78(12):815-28. [Medline].

  31. Norman MG, Waisberg HA, Lowden JA. Progressive deafness and dementia in an 8-year-old boy. J Pediatr. 1975 May. 86(5):805-9. [Medline].

  32. Pajak B, Stefanko S, Goldsztajn M. [Acute course of Schilder's disease]. Neurol Neurochir Pol. 1971. 5(2):233-6. [Medline].

  33. Picard E. Case records of the Massachusetts General Hospital. Case 43-1965. N Engl J Med. 1965 Sep 30. 273(14):760-7. [Medline].

  34. Poser CM. Disseminated vasculomyelinopathy. A review of the clinical and pathologic reactions of the nervous system in hyperergic diseases. Acta Neurol Scand. 1969. Suppl 37:3-44. [Medline].

  35. Poser CM. Myelinoclastic diffuse and transitional sclerosis. Handbook of Clinical Neurology. New York, NY: American Elsevier; 1970. Vol 9: 469-84.

  36. Poser CM, Brinar VV. The nature of multiple sclerosis. Clin Neurol Neurosurg. 2004 Jun. 106(3):159-71. [Medline].

  37. Poser CM, Goutières F, Carpentier MA, Aicardi J. Schilder's myelinoclastic diffuse sclerosis. Pediatrics. 1986 Jan. 77(1):107-12. [Medline].

  38. Poser CM, Van Bogaert L. Natural history and evolution of the concept of Schilder's diffuse sclerosis. Acta Neurol Scand. 1956. 31:285-331.

  39. Tanaka J, Garcia JH, Khurana R. Unusual demyelinating disease. A form of diffuse-disseminated sclerosis. Neurology. 1975 Jun. 25(6):588-93. [Medline].

  40. Van Bogaert L, De Busscher J. Sur la sclerose inflammatoire de la substance blanche des hemispheres. Rev Neurol. 1939. 71:679-701.

  41. Van Gehuchten P, Brucher JM. La forme transitionelle de la sclerose cerebrale diffuse de Schilder. Rev Neurol. 1961. 104:108-125.

  42. Vanden Herrewegen M, Chamoles N. [Recent study on the significance of diffuse sclerosis of the Schilder type (1912) in children. 1. Anatomoclinical aspect of a sporadic case]. Acta Neurol Psychiatr Belg. 1968 Nov. 68(11):837-50. [Medline].

  43. Walker E. Case records of the MGH - leukoencephalitis, diffuse sclerosis (Schilder's disease). N Engl J Med. 1962. 266:191-96.

  44. Watanabe I, Muller J. Cavitating "diffuse sclerosis". J Neuropathol Exp Neurol. 1967 Jul. 26(3):437-55. [Medline].

Previous
Next
 
 
 
 
All material on this website is protected by copyright, Copyright © 1994-2016 by WebMD LLC. This website also contains material copyrighted by 3rd parties.