Porencephaly

Porencephaly is an extremely rare disorder of the central nervous system that causes a cyst or cavity filled with cerebrospinal fluid to develop in the brain. It is usually the result of damage from stroke or infection after birth (more common), but it can also be caused by delayed development before birth (which is inherited and less common). Diagnosis is usually made before an infant reaches their first birthday.

Symptoms include:

Delayed growth and development
Spastic hemiplegia (slight or incomplete paralysis)
Hypotonia (low muscle tone)
Seizures (often infantile spasms)
Macrocephaly (large head) or microcephaly (small head)

Children with porencephaly may have:

Delayed or absent speech development
Epilepsy
Hydrocephalus (accumulation of fluid in the brain)
Spastic contractures (shrinkage or shortening of the muscles)
Cognitive difficulties

How can I or my loved one help improve care for people with porencephaly?

Porencephaly is considered a rare disease, which often means there is not much information known about it. This is usually the case because doctors and researchers do not see many people with porencephaly, which makes it hard to learn from them through observations or large studies.

Consider participating in a clinical trial so clinicians and scientists can learn more about porencephaly and related disorders. Clinical research uses human volunteers to help researchers learn more about a disorder and perhaps find better ways to safely detect, treat, or prevent disease.

All types of volunteers are needed—those who are healthy or may have an illness or disease—of all different ages, sexes, races, and ethnicities to ensure that study results apply to as many people as possible, and that treatments will be safe and effective for everyone who will use them.

For information about participating in clinical research visit NIH Clinical Research Trials and You. Learn about clinical trials currently looking for people with porencephaly at Clinicaltrials.gov.

Where can I find more information about porencephaly?

The following organizations and resources may provide additional information:

Genetic and Rare Diseases (GARD) Information Center

March of Dimes
Phone: 888-663-4637

MedlinePlus

PubMed

Content source: https://www.ninds.nih.gov/health-information/disorders/porencephaly Accessed June 29, 2023.

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