Diffuse myelinoclastic sclerosis
Encyclopedia
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 perfectly possible.
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
.
and may include dementia
, aphasia
, seizures, personality changes, poor attention
, tremors, balance instability
, incontinence, muscle weakness, headache, vomiting, and vision and speech impairment.
,
remitting;
and finally, progressive, with increase in deficits.
and nutritional support in the later stages as patients loose their ability to eat.
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.
Schilder's disease
Schilder's disease may refer to two different diseases described by Paul Schilder:* Adrenoleukodystrophy* Diffuse myelinoclastic sclerosis...
", is a very infrequent neurodegenerative disease that presents clinically as pseudotumoural
Tumor
A tumor or tumour is commonly used as a synonym for a neoplasm that appears enlarged in size. Tumor is not synonymous with cancer...
demyelinating
Multiple sclerosis
Multiple sclerosis is an inflammatory disease in which the fatty myelin sheaths around the axons of the brain and spinal cord are damaged, leading to demyelination and scarring as well as a broad spectrum of signs and symptoms...
lesions, that make its diagnosis difficult. It usually begins in childhood, affecting children between 5 and 14 years old, but cases in adults are perfectly possible.
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
Devic's disease
Neuromyelitis optica , also known as Devic's disease or Devic's syndrome, is an autoimmune, inflammatory disorder in which a person's own immune system attacks the optic nerves and spinal cord. This produces an inflammation of the optic nerve and the spinal cord...
(NMO), Balo concentric sclerosis
Balo concentric sclerosis
Balo concentric sclerosis is one of the borderline forms of multiple sclerosis.Balo concentric sclerosis is a demyelinating disease similar to standard multiple sclerosis, but with the particularity that the demyelinated tissues form concentric layers...
and Marburg multiple sclerosis
Marburg multiple sclerosis
Marburg multiple sclerosis, also known as fulminant multiple sclerosis, is considered one of the multiple sclerosis borderline diseases, which is a collection of diseases classified by some as MS variants and by others as different diseases. Other diseases in this group are Neuromyelitis optica ,...
.
Symptoms
Symptoms are similar to those in multiple sclerosisMultiple sclerosis signs and symptoms
Multiple sclerosis can cause a variety of symptoms: changes in sensation , muscle weakness, abnormal muscle spasms, or difficulty moving; difficulties with coordination and balance; problems in speech or swallowing , visual problems , fatigue and acute or chronic pain syndromes, bladder and bowel...
and may include dementia
Dementia
Dementia is a serious loss of cognitive ability in a previously unimpaired person, beyond what might be expected from normal aging...
, aphasia
Aphasia
Aphasia is an impairment of language ability. This class of language disorder ranges from having difficulty remembering words to being completely unable to speak, read, or write....
, seizures, personality changes, poor attention
Attention
Attention is the cognitive process of paying attention to one aspect of the environment while ignoring others. Attention is one of the most intensely studied topics within psychology and cognitive neuroscience....
, tremors, balance instability
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...
, 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.
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 therapyOccupational therapy
Occupational therapy is a discipline that aims to promote health by enabling people to perform meaningful and purposeful activities. Occupational therapists work with individuals who suffer from a mentally, physically, developmentally, and/or emotionally disabling condition by utilizing treatments...
and nutritional support in the later stages as patients loose their ability to eat.
History
It was first described by Paul Ferdinand SchilderPaul Ferdinand Schilder
Paul Ferdinand Schilder was an Austrian psychiatrist, psychoanalyst, researcher and author of numerous scientific publications. He was a pupil of Sigmund Freud...
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
White matter is one of the two components of the central nervous system and consists mostly of myelinated axons. White matter tissue of the freshly cut brain appears pinkish white to the naked eye because myelin is composed largely of lipid tissue veined with capillaries. Its white color is due to...
pathologies described by him. In 1986 Poser tried to restrict the use of Schilder's disease
Schilder's disease
Schilder's disease may refer to two different diseases described by Paul Schilder:* Adrenoleukodystrophy* Diffuse myelinoclastic sclerosis...
name to the disease described here, but this name has remained still ambiguous.