What is Porencephaly?
Porencephaly is an extremely rare disorder of the central nervous system in
which a cyst or cavity filled with cerebrospinal fluid develops in the brain. It
is usually the result of damage from stroke or infection after birth (the more
common type), but it can also be caused by abnormal development before birth
(which is inherited and less common). Diagnosis is usually made before an infant
reaches his or her first birthday. Symptoms of porencephaly include delayed
growth and development, spastic hemiplegia (slight or incomplete paralysis),
hypotonia (low muscle tone), seizures (often infantile spasms), and macrocephaly
(large head) or microcephaly (small head). Children with porencephaly may have
poor or absent speech development, epilepsy, hydrocephalus (accumulation of
fluid in the brain), spastic contractures (shrinkage or shortening of the
muscles), and mental retardation.
Is there any treatment?
Treatment may include physical therapy, medication for seizures, and the
placement of a shunt in the brain to remove excess fluid in the brain.
What is the prognosis?
The prognosis for children with porencephaly varies according to the location
and extent of the cysts or cavities. Some children with this disorder develop
only minor neurological problems and have normal intelligence, while others may
be severely disabled and die before their second decade of life.
What research is being done?
The National Institute of Neurological Disorders and Stroke (NINDS) and other
institutes of the National Institutes of Health (NIH) conduct research related
to porencephaly in laboratories at the NIH and also support additional research
through grants to major medical institutions across the country. Much of this
research explores the complex mechanisms of normal brain development. The
knowledge gained from these fundamental studies will provide a foundation for
developing ways to prevent porencephaly and the other cephalic disorders.
Organizations
March of Dimes Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
askus@marchofdimes.com
www.marchofdimes.com
Tel: 914.428.7100 888.MODIMES (663.4637)
Fax: 914.428.8203
National Organization for Rare Disorders (NORD)
P.O. Box 1968
(55 Kenosia Avenue)
Danbury, CT 06813-1968
orphan@rarediseases.org
www.rarediseases.org
Tel: 203.744.0100 Voice Mail 800.999.NORD (6673)
Fax: 203.798.2291
Source: National Institutes of Health; National Institute of Neurological Disorders and Stroke
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This information is provided by the Cleveland Clinic and is not intended to replace the medical advice of your doctor or health care provider. Please consult your health care provider for advice about a specific medical condition. This document was last reviewed on: 3/9/2009...#6099
