Schilder’s disease is a degenerative demyelinating lesion of the brain, accompanied by the formation of large or drain zones of demyelination. It has a steadily progressive course with a nonspecific and polymorphic clinical picture, which may include mental disorders, pyramidal and extrapyramidal syndromes, cognitive deficits, damage to cranial nerves, episyndrome. Schilder’s disease is diagnosed according to clinical criteria and MRI results after excluding another pathology with similar manifestations. Therapy is carried out with glucocorticosteroids, anticonvulsants, muscle relaxants and psychotropic drugs. However, the treatment is ineffective.
ICD 10
G31.0 Limited brain atrophy
General information
Schilder’s disease was first considered as an independent nosology in 1912 by a psychoneurologist, whose name was firmly fixed in the name of the disease, although the author himself designated the pathology described by him with the term “periaxial diffuse leukoencephalitis”. Later, various researchers presented descriptions of other clinical forms of leukoencephalitis: in 1941 – hemorrhagic leukoencephalitis, in 1945 – subacute sclerosing leukoencephalitis. Since the main pathomorphological substrate of the disease is diffuse zones of demyelination of white matter, Schilder’s disease is included in the group of demyelinating diseases.
The predominant age of the manifestation of Schilder’s disease still remains a controversial issue. American experts in the field of neurology consider the debut in the age period from 7 to 12 years to be characteristic, and some authors suggest that the disease should be attributed to the childhood form of multiple sclerosis.
Causes
The etiopathogenesis of Schilder’s disease is under study. It can be seen from the name of the disease that the inflammatory etiology of cerebral lesion, i.e. encephalitis, was originally meant. The viral theory of the disease is assumed to be based on the type of slow infections. Among the possible infectious agents, the role of measles, herpes infection, and mixoviruses, which may trigger the process of autoimmune cerebral inflammation, is discussed. However, unsuccessful attempts to isolate the pathogen led to the emergence of a different etiopathogenetic theory. The latter suggests the connection of Schilder’s disease with dysfunction of the regulatory mechanisms of lipid metabolism, which brings the disease closer to hereditary leukodystrophy.
Morphological changes consist in the formation of significant demyelination zones in the white cerebral matter of the hemispheres, having clear pointed outlines and often asymmetrically located. In some cases, such foci form in the cerebellum and brain stem. In patients who became ill during puberty and in adulthood, cases have been described when, along with zones of extensive demyelination, rounded plaque-like foci resembling plaques of multiple sclerosis are observed.
Symptoms
The disease is characterized by the presence of nonspecific and polymorphic symptoms. It can manifest gradually developing mental disorders: mood lability, apathy, behavior disorder, episodes of arousal with hallucinatory syndrome. Intellectual decline progresses up to dementia. There are agraphy, acalculia, alexia, agnosia, apraxia. As a result of demyelination of cranial nerves, optic neuritis, ophthalmoplegia, hearing loss, decreased vision, bulbar disorders occur. When the cerebellum is affected, cerebellar ataxia, chanted speech, intentional tremor appears. The lesion of the visual cortex leads to hemianopia, cortical amaurosis. Extrapyramidal disorders in the form of hyperkinesis, torsion dystonia, etc. are possible. Pyramidal disorders are usually observed in the late stages of leukoencephalitis in the form of mono-, hemi- and tetraparesis. Often there is a convulsive syndrome (like Jackson’s epilepsy or with generalized epiprimes), characterized by the absence of a specific EEG picture.
The variability of combinations of various symptom complexes is so pronounced that it does not allow us to distinguish a typical variant of the course of Schilder’s disease. In some cases, the clinic is similar to the progredient variant of multiple sclerosis, in others it has a pseudotumor character, in others it resembles psychiatric pathology. In the latter case, patients may be treated by a psychiatrist until the development of obvious neurological symptoms.
Diagnostics
It is very difficult to diagnose Schilder’s disease in vivo. This task requires a neurologist to carefully compare anamnestic, clinical and tomographic data, and carefully conduct differential diagnostics with similar diseases. In order to examine the visual and auditory analyzers, an ophthalmologist and an otolaryngologist may be involved in consultations.
Electroencephalography reveals signs of diffuse cerebral lesion: decreased alpha activity and rhythm disorganization; epileptiform activity is often determined. When examining the cerebrospinal fluid, an increase in the level of gamma globulin is detected against the background of a decrease in the specific gravity of the albumin fraction. The most informative way of instrumental diagnostics is MRI of the brain. Schilder’s disease confirms the presence of at least one large or a pair of drain foci of demyelination in the white cerebral substance.
To establish a final diagnosis, many neurologists are guided by the criteria of C.M. Poser 1985: the presence of 1-2 rounded demyelination zones of at least 2×3 cm according to MRI data; the absence of adrenal pathology; the exclusion of any other cerebral pathology (intracerebral tumor, multiple encephalomyelitis, stroke, etc.); compliance with the norm of the level of fatty acids in the blood serum; detection on autopsies of diffuse chronic sclerosis zones. In some cases, Schilder’s disease can be distinguished from leukodystrophy only by histological studies of the cerebral tissues of the affected area.
Treatment and prognosis
The lack of clear ideas about the etiopathogenesis of Schilder’s disease has not yet allowed the development of more or less effective methods of its treatment. Some effect of glucocorticosteroid therapy has been noted, in connection with which many patients are prescribed methylprednisolone, initially parenterally in a shock dose, and then orally with a gradual dose reduction. In parallel, a course of neuroprotective, antioxidant and vascular therapy is carried out, if necessary, anticonvulsant treatment (carbamazepine, diazepam), muscle relaxants (amantadine, tolperizone, amidine), decongestant measures (furosemide, acetazolamide, magnesium sulfate), psychotropic pharmaceuticals are prescribed.
Timely treatment can only delay the progression of pathology somewhat. However, despite its implementation, all patients die. The time of death varies from several months to 3 years from the moment of the onset of leukoencephalitis.