What is Porencephaly?

Porencephaly is a congenital (present at birth) abnormality of the central nervous system (brain and spinal cord) which results in fluid-filled cysts or cavities in the brain.

How many children have Porencephaly?

Porencephaly is a very rare condition.

How do you know if your child has Porencephaly?

Most infants with Porencephaly will have symptoms shortly after birth. These symptoms may include low muscle tone, seizures, paralysis, developmental delay, motor dysfunction, mental retardation, and an enlarged skull caused by excess fluid in the brain (hydrocephalus). Children with Porencephaly are usually diagnosed by their first birthdays. The diagnosis is confirmed by ultrasound, CT (computer tomography) scan, or MRI (magnetic resonance imaging), all non-evasive ways to examine the brain.

What causes Porencephaly?

Porencephaly may be caused by a developmental abnormality, a vascular problem such as bleeding in the brain, an inflammatory disease, an infection, or the remnant of a destructive lesion.

How can you help a child with Porencephaly?

A child with Porencephaly may require a surgical by-pass (shunt) to allow the drainage of the blocked fluid (hydrocephalus) or to drain the cyst. Some children may require surgery to remove the cyst. Anticonvulsant medications may be given to a child suffering from seizures, and many children benefit from physical therapy. A team of specialists is helpful for children with Porencephaly and usually should include a pediatrician, neurologist, orthopedic specialist, and physical therapist.

What’s in the future for a child with Porencephaly?

The prognosis depends on the size, number, and location of the cysts. Some children may be severely disabled, and some children may die before the age of ten. Other children, however, develop only minor neurological problems and have normal intelligence.

Fact Sheet by:

Birth Defect Research Children, Inc.

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