Introduction:
Schilders' disease is a very rare condition that mostly starts in childhood and young adulthood. This disease is most commonly seen in boys around the age of 7 to 12 years. It is typically a disease that affects the body's myelin and is considered to be a form of multiple sclerosis. Schilder's disease is otherwise known as diffuse cerebral sclerosis or myelinoclastic diffuse sclerosis. The specific cause is not known, but the researchers think there may be a genetic link, and it often happens right after an infectious illness. Schilder's disease was first described by Paul Schilder in 1912 as a severe acute demyelinating disease.
What Is Myelin?
Myelin is a protective covering that covers the nerves present in the body. This helps the signals to move faster around the body. When the myelin is damaged, then the passing of signals can be disrupted.
What Are the Causes of Schilder Disease?
The precise cause of Schilder's disease is not known but given its young age of onset. It is thought to represent a confluence of genetic predisposition and environmental factors. This Schilder's disease is a more aggressive genetic or inborn metabolic error compared to other demyelinating diseases with adult-onset. Although it is believed that a genetic linkage may be responsible, there are no studies stating the same.
What Are the Symptoms of Schilder Disease?
The onset of the illness will be more sudden and often occurs following an infectious illness. The illness starts off with the following signs and symptoms:
It also includes a wide range of neurological disorders, such as:
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Aphasia.
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Memory disturbances.
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Irritability.
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Confusion.
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Disorientation.
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Problems with balance.
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Behavioral disturbances.
The individual may appear to be psychotic.
Other signs and symptoms include:
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Deafness.
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Paralysis of eye movements.
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Nystagmus (involuntary eye movement).
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Dysarthria (disturbed speech).
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Dysphagia (difficulty swallowing).
Peripheral cranial nerve abnormalities such as:
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Optic neuritis.
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Optic atrophy.
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Cortical blindness.
In later chronic stages of the illness, the following signs are noticed:
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Malnutrition.
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Cachexia (this is otherwise known as wasting syndrome, causing weight loss and muscle wasting).
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Gradual loss of awareness.
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Problems with bowel and bladder control.
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Interferences in respiration, blood pressure, and heart rate problems.
Is Schilder Disease a Genetic Condition?
Schilders' disease is not inherited, but sometimes it is confused with Addison-Schilder disease, which is an inherited abnormality in the myelin.
How Is Schilder Disease Similar to Multiple Sclerosis?
Multiple sclerosis is a disease of the central nervous system. In multiple sclerosis (MS), the immune system attacks the protective sheath that covers the nerve fibers. Due to this, the communication between the brain and the rest of the body is disturbed. Schilders' disease and multiple sclerosis have the same pathology, and both conditions have similar symptoms.
Some of the common symptoms include:
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Fatigue.
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Tremors.
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Blurred vision.
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Problems in speech.
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Dizziness.
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Interferences in motor movements.
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Disturbances in personality.
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Problems with hearing.
How Is Schilder Disease Diagnosed?
There are no specific criteria for diagnosing Schilder's disease. Unfortunately, there is no significant hallmark sign of this disease on testing, but the following diagnostic tests may be recommended to evaluate the condition:
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EEG (electroencephalogram).
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CT (Computed tomography).
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MRI (magnetic resonance imaging).
EEG (electroencephalogram):
An EEG is recommended if seizures are present. The EEG findings can correlate with the visualized cerebral lesions in Schilder's disease.
CT (computed tomography):
In a CT scan, the lesions in Schilder's disease can be detected, which appear as hypodense lesions with ring enhancement and mass effect.
MRI (magnetic resonance imaging):
MRI helps to rule out other conditions with similar symptoms.
Brain Biopsy:
Certain studies have shown that brain biopsy helps differentiate Schilder's disease from other similar conditions.
Can Schilder Disease Be Treated?
The mainstay of the treatment includes immune suppression. The treatment to achieve the required immunosuppression and symptomatic improvement is Corticosteroids. Intravenous Methylprednisolone is the usually suggested treatment given for 3 days to 5 days. There is no proven evidence for a course of 5 days being superior to a duration of three days in any metric of the outcome. But if no or little improvement is seen in three days, then a 5-day course is recommended. After administration of high doses of Methylprednisolone, one should taper over three weeks to six weeks with oral Corticosteroids.
Certain reports have also suggested that ACTH treatment has helped improve the condition, but typically the high cost and lack of availability of ACTH have markedly reduced the usage of this treatment.
High-dose Cyclophosphamide can be used in treating Schilder's disease with favorable outcomes.
In addition to the above treatments, the state of the patient must be considered. It should be made sure that the patient has adequate ventilation capability, and adequate nutrition should be given either orally or through parenteral routes, along with monitoring of the electrolyte status and surveillance for any infection.
What Are the Commonly Reported Adverse Effects Associated with Each Treatment?
The adverse effects of Corticosteroids and ACTH include the following:
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Hyperglycemia.
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Psychosis or mood changes.
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Gastrointestinal ulceration or bleeding.
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Hypokalemia (low blood potassium levels).
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Insomnia (lack of sleep).
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Opportunistic infections.
These side effects are rare and less common.
The adverse effects of Cyclophosphamide include:
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Nausea and vomiting.
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Alopecia (hair loss).
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Dyspepsia (discomfort in the upper abdomen).
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Fatigue.
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Bone marrow suppression.
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Inhibition of wound healing.
What Are the Differential Diagnosis of Schilder Disease?
Schilder's disease mimics the following conditions:
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Intracranial neoplasm or abscess.
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Viral encephalitis or viral meningitis.
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Glioblastoma multiforme.
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Churg-Strass syndrome.
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Granulomatosis with polyangiitis.
How Is the Prognosis of Schilder Disease?
Just like multiple sclerosis, the prognosis of Schilders' disease is unpredictable. For some people, the disease can be progressive, whereas few may experience significant improvement, and sometimes there can even be remission of the symptoms. However, there are cases when Schilder's disease can become fatal.
Conclusion:
Schilder's disease is incredibly rare, and there is no specific cure for this disease. However, there are studies stating that people respond differently to the treatment. Some improve greatly, and the disease can go into remission.
