Diffuse cerebral sclerosis of Schilder

Diffuse Cerebral Sclerosis of Schilder

Diffuse cerebral sclerosis of Schilder, also known as Schilder's disease, is a rare demyelinating disorder that primarily affects the central nervous system. It is characterized by large lesions in the white matter of the brain, leading to a variety of neurological symptoms. This condition is considered a variant of multiple sclerosis (MS) and is often grouped under the umbrella of demyelinating diseases.

History

The disease was first described by the Austrian neurologist Paul Schilder in 1912. Schilder's initial observations were based on the clinical and pathological findings in a series of patients who presented with progressive neurological decline and large demyelinating lesions in the brain.

Pathophysiology

Schilder's disease is characterized by the destruction of myelin, the protective sheath that surrounds nerve fibers in the central nervous system. This demyelination disrupts the normal transmission of electrical impulses along the nerves, leading to neurological deficits. The exact cause of the disease is unknown, but it is believed to involve an autoimmune process similar to that seen in multiple sclerosis.

Clinical Presentation

Patients with Schilder's disease typically present with a range of neurological symptoms, which may include:

• Cognitive decline
• Motor dysfunction
• Visual disturbances
• Seizures
• Behavioral changes

The onset of symptoms is usually in childhood or early adulthood, and the disease can progress rapidly.

Diagnosis

The diagnosis of Schilder's disease is challenging due to its rarity and the overlap of symptoms with other demyelinating disorders. It is typically diagnosed based on clinical presentation, MRI findings showing large demyelinating lesions, and the exclusion of other conditions. A lumbar puncture may be performed to analyze cerebrospinal fluid for signs of inflammation.

Treatment

There is no cure for Schilder's disease, and treatment is primarily supportive. Therapies may include:

• Corticosteroids to reduce inflammation
• Immunosuppressive drugs
• Physical therapy to manage symptoms

Prognosis

The prognosis for individuals with Schilder's disease varies. Some patients may experience a rapid progression of symptoms, while others may have a more stable course. Early diagnosis and intervention can help manage symptoms and improve quality of life.

Research

Ongoing research is focused on understanding the underlying mechanisms of demyelination in Schilder's disease and developing targeted therapies. Advances in imaging techniques and immunological studies are contributing to a better understanding of this rare condition.

See Also

• Multiple sclerosis
• Demyelinating diseases
• Autoimmune disorders

NIH genetic and rare disease info

• NIH info on Diffuse cerebral sclerosis of Schilder

Diffuse cerebral sclerosis of Schilder is a rare disease.