Schilder's disease

Definition

Schilder's disease is a form of multiple sclerosis that strikes in childhood.

Description

Schilder's disease is a very rare progressive degenerative disease that affects children. It resembles multiple sclerosis both in its symptoms (difficulties with movement and speech) and its pathology (widespread demyelination of the brain). Demyelination refers to the destruction of the myelin that normally encases nerve fibers. Myelin is the fatty white substance that wraps around nerve fibers, providing insulation and allowing nerve signals to move quickly. Without myelin, nervous transmission is significantly slowed. As the disease progresses, larger and larger patches of demyelination occur, interfering with motor movement, speech, personality, hearing and vision. Ultimately, the vital functions (respiration, heart rate, blood pressure) are affected, leading to the individual's death.

Demographics

Schilder's disease is exceedingly rare. Because there are no specific criteria for the diagnosis, there continues to be debate among researchers and clinicians regarding the most appropriate way to definitively diagnose the disease and collect data on its frequency and incidence. Some sources suggest that there have only been nine cases of definitively diagnosed Schilder's disease since it was originally described in the German medical literature in 1912.

Most patients with Schilder's disease are diagnosed between the ages of seven and twelve years of age.

Causes and symptoms

The underlying cause of Schilder's disease is unknown. Symptoms of the disease are caused by widespread patches of demyelination throughout the brain and spinal cord, resulting in slowed, faulty nervous transmission.

Symptoms of Schilder's disease include weakness of one side of the body (hemiparesis), slowness of movement (psychomotor retardation), paralysis of all four extremities (quadraparesis), seizures , difficulty with speech (dysarthria ), visual and hearing impairment, irritability, memory problems, personality changes, and gradual loss of awareness and responsiveness. Over time, patients become unable to maintain their nutritional status and become increasingly thin and malnourished. Bowel and bladder function are often lost as the disease progresses.

Some children have a relentlessly progressive course of the disease, culminating in death. Other children have remissions and exacerbations, with each subsequent exacerbation more severe and each remission less complete, until death supervenes.

Diagnosis

Because researchers and clinicians have not been able to delineate a clear-cut list of criteria for the diagnosis of Schilder's disease, definitive diagnosis is difficult. EEG studies may show some abnormalities. MRI studies will certainly reveal demyelination. Other lab studies (blood tests, test on cerebrospinal fluid obtain via lumbar puncture, brain biopsy ) are usually performed in an effort to rule out some other cause for the patient's symptoms, such as an infectious, malignant, or metabolic condition; in Schilder's disease, these will all come back normal.

Treatment team

The treatment team for a child with Schilder's disease usually consists of neurologists, specialists in multiple sclerosis, and rheumatologists. Support from physical therapists, occupational therapists, and speech and language therapists can help a child maintain as much functioning as possible.

Treatment

There is no cure for Schilder's disease. Treatments are aimed at slowing the inexorable course of the disease, and are similar to treatments used for multiple sclerosis, such as high dose steroids, beta interferon, and immunosuppressants.

Prognosis

Schilder's disease is uniformly fatal.

Resources

BOOKS

Ferri, Fred F., ed. Ferri's Clinical Advisor: Instant Diagnosis and Treatment. St. Louis: Mosby, 2004.

Goetz, Christopher G., ed. Textbook of Clinical Neurology. Philadelphia: W. B. Saunders Company, 2003.

PERIODICALS

Fernández-Jaén, A. "Schilder's diffuse myelinoclastic sclerosis." Review of Neurology 33, no. 1 (July 1, 2001): 16–21.

Kotil, K. "Human Prion Diseases." British Journal of Neurosurgery 16, no. 5 (October 1, 2002): 516–519.

WEBSITES

National Institute of Neurological Disorders and Stroke (NINDS). NINDS Schilder's Disease Information Page. July 24, 2001. http://www.ninds.nih.gov/health_and_medical/disorders/schilder's.htm.

ORGANIZATIONS

Multiple Sclerosis Association of America. 706 Haddonfield Road, Cherry Hill, NJ 08002. 856-488-4500 or 800-532-7667; Fax: 856-661-9797. [email protected]. <http://www.msaa.com>.

Multiple Sclerosis Foundation. 6350 North Andrews Avenue, Ft. Lauderdale, FL 33309-2130. 954-776-6805 or 888-MSFocus (673-6287); Fax: 954-351-0630.

National Multiple Sclerosis Society. 733 Third Avenue, 6th Floor, New York, NY 10017-3288. 212-986-3240 or 800-344-4867 (FIGHTMS); Fax: 212-986-7981. [email protected]. <http://www.nationalmssociety.org>.

Rosalyn Carson-DeWitt, MD