Diffuse myelinoclastic sclerosis, sometimes referred to as Schilder's disease, is a very infrequent neurodegenerative disease that presents clinically as pseudotumoural

demyelinating Myelin is a lipid-rich material that surrounds nerve cell axons (the nervous system's "wires") to insulate them and increase the rate at which electrical impulses (called action potentials) are passed along the axon. The myelinated axon can be l ...

lesions, making its diagnosis difficult. It usually begins in childhood, affecting children between 5 and 14 years old, but cases in adults are also possible. This disease is considered one of the

borderline forms of multiple sclerosis Inflammatory demyelinating diseases (IDDs), sometimes called Idiopathic (IIDDs) due to the unknown etiology of some of them, are a heterogenous group of demyelinating diseases - conditions that cause damage to myelin, the protective sheath of ner ...

because some authors consider them different diseases and others MS variants. Other diseases in this group are

neuromyelitis optica Neuromyelitis optica spectrum disorders (NMOSD), including neuromyelitis optica (NMO), are autoimmune diseases characterized by acute inflammation of the optic nerve (optic neuritis, ON) and the spinal cord (myelitis). Episodes of ON and myelitis ...

(NMO),

Balo concentric sclerosis Baló's concentric sclerosis is a disease in which the white matter of the brain appears damaged in concentric layers, leaving the axis cylinder intact. It was described by József Mátyás Baló who initially named it "leuko-encephalitis periaxial ...

and

Marburg multiple sclerosis Marburg acute multiple sclerosis, also known as Marburg multiple sclerosis or acute fulminant multiple sclerosis, is considered one of the multiple sclerosis borderline diseases, which is a collection of diseases classified by some as MS variants a ...

Symptoms and signs

Symptoms are similar to those in multiple sclerosis and may include

dementia Dementia is a disorder which manifests as a set of related symptoms, which usually surfaces when the brain is damaged by injury or disease. The symptoms involve progressive impairments in memory, thinking, and behavior, which negatively affe ...

aphasia Aphasia is an inability to comprehend or formulate language because of damage to specific brain regions. The major causes are stroke and head trauma; prevalence is hard to determine but aphasia due to stroke is estimated to be 0.1–0.4% in th ...

seizures An epileptic seizure, informally known as a seizure, is a period of symptoms due to abnormally excessive or neural oscillation, synchronous neuronal activity in the brain. Outward effects vary from uncontrolled shaking movements involving much o ...

personality changes Personality Changes: Originally thought to be concrete and unchanging, recent studies have found evidence that personality can change throughout a person's life. An important idea to keep in mind is that differences in personality traits among ind ...

, poor

attention Attention is the behavioral and cognitive process of selectively concentrating on a discrete aspect of information, whether considered subjective or objective, while ignoring other perceivable information. William James (1890) wrote that "Atte ...

tremor A tremor is an involuntary, somewhat rhythmic, muscle contraction and relaxation involving oscillations or twitching movements of one or more body parts. It is the most common of all involuntary movements and can affect the hands, arms, eyes, fa ...

s, balance

instability In numerous fields of study, the component of instability within a system is generally characterized by some of the outputs or internal states growing without bounds. Not all systems that are not stable are unstable; systems can also be mar ...

, incontinence, muscle weakness, headache, vomiting, and vision and speech impairment.

Diagnostic

The Poser criteria for diagnosis are: * 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.

Neuropathological examination

The typical demyelinating plaques in Schilder's sclerosis are usually found bilaterally in the centrum semiovale. 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.

Immunology

It has been reported that DMS cases show no

oligoclonal band Oligoclonal bands (OCBs) are bands of immunoglobulins that are seen when a patient's blood serum, or cerebrospinal fluid (CSF) is analyzed. They are used in the diagnosis of various neurological and blood diseases, especially in multiple sclerosis. ...

s, being therefore distinct from standard MS.

Treatments

Management

Corticosteroids Corticosteroids are a class of steroid hormones that are produced in the adrenal cortex of vertebrates, as well as the synthetic analogues of these hormones. Two main classes of corticosteroids, glucocorticoids and mineralocorticoids, are involve ...

may be effective in some patients. Additional treatment options are beta-interferon or immunosuppressive therapy. Otherwise management is supportive and includes

physiotherapy Physical therapy (PT), also known as physiotherapy, is one of the allied health professions. It is provided by physical therapists who promote, maintain, or restore health through physical examination, diagnosis, management, prognosis, patient ...

occupational therapy Occupational therapy (OT) is a global healthcare profession. It involves the use of assessment and intervention to develop, recover, or maintain the meaningful activities, or ''occupations'', of individuals, groups, or communities. The field of ...

and nutritional support in the later stages as patients lose their ability to eat.

Prognosis

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.

History

It was first described by

Paul Ferdinand Schilder Paul Ferdinand Schilder (February 15, 1886, Vienna – December 7, 1940, New York City) was an Austrian psychiatrist, psychoanalyst, and medical researcher. Neurological research work (in both neurophysiology and neuropathology), coupled with a ...

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 White matter refers to areas of the central nervous system (CNS) that are mainly made up of myelinated axons, also called tracts. Long thought to be passive tissue, white matter affects learning and brain functions, modulating the distribution ...

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 still remained

ambiguous Ambiguity is the type of meaning (linguistics), meaning in which a phrase, statement or resolution is not explicitly defined, making several interpretations wikt:plausible#Adjective, plausible. A common aspect of ambiguity is uncertainty. It ...

. The name comes from a traditional classification of demyelinating diseases in two groups: demyelinating myelinoclastic diseases and demyelinating leukodystrophic diseases. In the first group, a normal and healthy myelin is destroyed by a toxic, chemical, or autoimmune substance. In the second group, myelin is abnormal and degenerates. The second group was denominated dysmyelinating diseases by

Poser Poser or ''variant'', may refer to: *a hard problem, a poser *a hard question, a poser People *Poseur, a person who inauthentically adopts a certain subculture *a person playing a role, a role-play, a fake, an imposter * Bob Poser (1910–2002) ...

References

External links

* {{DEFAULTSORT:Schilder'S diSeaSe Autoimmune diseases Demyelinating diseases of CNS