Specialty neurology ICD-9-CM 341.1 DiseasesDB 11849 | ICD-10 G37.0 OMIM 272100 eMedicine neuro/92 | |
Diffuse myelinoclastic sclerosis, sometimes referred to as "Schilder's disease", is a very infrequent neurodegenerative disease that presents clinically as pseudotumoural demyelinating lesions, that make its diagnosis difficult. It usually begins in childhood, affecting children between 5 and 14 years old, but cases in adults are possible.
Contents
- Symptoms
- Neuropathological examination
- Diagnostic
- Prognosis and clinical course
- Treatments
- History
- References
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.
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.
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.
Diagnostic
The Poser criteria for diagnosis are:
Prognosis and clinical course
The prognosis of this disease is very variable and can take three different courses: a monophasic, not remitting; , remitting; and finally, progressive, with increase in deficits.
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.
History
It was first described by Paul Ferdinand Schilder in 1912, 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. In 1986 Poser tried to restrict the use of Schilder's disease name to the disease described here, but this name has remained still ambiguous.