Articles » NINDS Porencephaly Information Page: NINDS

NINDS Porencephaly Information Page: NINDS

Article title: NINDS Porencephaly Information Page: NINDS

Main condition: Porencephaly

Conditions: Porencephaly

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What is Porencephaly?
Porencephaly is an extremely rare disorder of the central nervous system involving cysts or cavities in a cerebral hemisphere. The cysts or cavities are usually the remnants of destructive lesions, but are sometimes the result of abnormal development. The disorder can occur before or after birth. Most infants show symptoms of the disorder shortly after birth. Diagnosis is usually made before age 1. Signs may include delayed growth and development, spastic paresis (slight or incomplete paralysis), hypotonia (low muscle tone), seizures (often infantile spasms), and macrocephaly (large head) or microcephaly (small head). Individuals with porencephaly may have poor or absent speech development, epilepsy, hydrocephalus, spastic contractures (shrinkage or shortening of a muscle), and mental retardation.

Is there any treatment?
Treatment may include physical therapy, medication for seizure disorders, and a shunt for hydrocephalus.

What is the prognosis?
The prognosis for individuals with porencephaly varies according to the location and extent of the lesions. Some patients with this disorder may develop only minor neurological problems and have normal intelligence, while others may be severely disabled. Others may die before the second decade of life.

What research is being done?
The NINDS conducts and supports a wide range of studies that explore the complex mechanisms of normal brain development. The knowledge gained from these fundamental studies provides the foundation for understanding how this process can go awry and, thus, offers hope for new means to treat and prevent developmental brain disorders, including porencephaly.

Selected references

Bradley, W, et. al. (eds).
Neurology in Clinical Practice: The Neurological Disorders. vol. II, 2nd edition, Butterworth-Heinemann, Boston, pp. 1078, 1480 (1996).

Berkow, R. (ed).
The Merck Manual of Diagnosis and Therapy: Specialties. vol. II, 16th edition, Merck & Co., Inc., Rahway, NJ, p. 307 (1992).

Blackman, J, et. al.
Large Postnatally Acquired Porencephalic Cysts: Unexpected Developmental Outcomes. Journal of Child Neurology, 6; 58-64 (January 1991).

 Organizations

March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
resourcecenter@modimes.org
http://www.modimes.org/
Tel: 914-428-7100 888-MODIMES (663-4637)
Fax: 914-428-8203

National Organization for Rare Disorders (NORD)
P.O. Box 8923
(100 Route 37)
New Fairfield, CT 06812-8923
orphan@rarediseases.org
http://www.rarediseases.org/
Tel: 203-746-6518 800-999-NORD (6673)
Fax: 203-746-6481

National Institute of Child Health and Human Development (NICHD)
National Institutes of Health
Bldg. 31, Rm. 2A32
Bethesda, MD 20892-2425
NICHDClearinghouse@mail.nih.gov
http://www.nichd.nih.gov/
Tel: 301-496-5133 800-370-2943

Related NINDS Publications and Information

Cephalic Disorders Fact Sheet
Cephalic Disorders fact sheet compiled by the National Institute of Neurological Disorders and Stroke (NINDS).

Children with Porencephaly, Stroke, and Cerebral Palsy Sought for Study
Lay-language descriptions of new program announcements and clinical trials seeking patient volunteers.

This fact sheet is in the public domain. You may copy it.Provided by:
The National Institute of Neurological Disorders and Stroke
National Institutes of Health
Bethesda, MD 20892



 » Next page: NINDS Post-Polio Syndrome Information Page: NINDS

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