Diffuse Sclerosis Clinical Presentation

  • Author: Robert Stanley Rust Jr, MD, MA; Chief Editor: B Mark Keegan, MD, FRCPC   more...
 
Updated: Feb 3, 2012
 

History

The diagnostic criteria established by Poser in 1985 require 6 elements:[4]

  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.
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Physical

  • 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.
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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.

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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: American Academy of Neurology, American Epilepsy Society, American Headache Society, American Neurological Association, Child Neurology Society, International Child Neurology Association, and Society for Pediatric Research

Disclosure: Nothing to disclose.

Specialty Editor Board

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, American Clinical Neurophysiology Society, American Epilepsy Society, American Medical Electroencephalographic Association, American Medical Informatics Association, and Biomedical Engineering Society

Disclosure: Nothing to disclose.

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

Disclosure: Medscape Salary Employment

Richard J Caselli, MD  Professor, Department of Neurology, Mayo Medical School, Rochester, MN; Chair, Department of Neurology, Mayo Clinic of Scottsdale

Richard J Caselli, MD is a member of the following medical societies: American Academy of Neurology, American Association of Neuromuscular and Electrodiagnostic Medicine, American Medical Association, American Neurological Association, and Sigma Xi

Disclosure: Nothing to disclose.

Selim R Benbadis, MD  Professor, Director of Comprehensive Epilepsy Program, Departments of Neurology and Neurosurgery, Tampa General Hospital, University of South Florida College of Medicine

Selim R Benbadis, MD is a member of the following medical societies: American Academy of Neurology, American Academy of Sleep Medicine, American Clinical Neurophysiology Society, American Epilepsy Society, and American Medical Association

Disclosure: UCB Pharma Honoraria Speaking, consulting; Lundbeck Honoraria Speaking, consulting; Cyberonics Honoraria Speaking, consulting; Glaxo Smith Kline Honoraria Speaking, consulting; Pfizer Honoraria Speaking, consulting; Sleepmed/DigiTrace Honoraria Speaking, consulting

Chief Editor

B Mark Keegan, MD, FRCPC  Assistant Professor of Neurology, College of Medicine, Mayo Clinic; Master's Faculty, Mayo Graduate School; Consultant, Department of Neurology, Mayo Clinic, Rochester

B Mark Keegan, MD, FRCPC is a member of the following medical societies: American Academy of Neurology, American Medical Association, and Minnesota Medical Association

Disclosure: Novartis Consulting fee Consulting; Bionest Consulting fee Consulting

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