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Porencephaly is a rare condition characterized by the appearance of small cysts in the cerebral hemisphere. This cephalic disorder can be caused by abnormalities in fetal or infant development, and it can vary in severity. Some patients are severely disabled by porencephaly, while others may lead relatively normal lives despite the holes in their brains. Classically, porencephaly is diagnosed when an infant displays neurological abnormalities.
Most commonly, porencephaly is caused by abnormalities in the development of a newborn brain. If an infant suffers a stroke or develops an infection in the brain, it can cause a destructive lesion which becomes encysted as the brain attempts to protect itself. Over time, the cyst becomes lined with smooth tissue and filled with cerebrospinal fluid. Abnormalities during fetal development can also lead to the development of one or more cysts on the brain.
Symptoms of porencephaly vary, depending on the location of the cyst or cysts, and their size. Physical problems like lack of muscle tone, paralysis, and seizures can occur, along with developmental delays, especially with language development. The patient may also fail to thrive as a result of porencephaly. When these symptoms are observed, a pediatrician can order medical imaging studies of the brain, and refer the patient to a pediatric neurologist who specializes in neurological disorders in children and infants.
It is important to monitor infants for any signs of deviation from expected developmental milestones. While some variation from the average is expected and not a cause for concern, radical variations or the signs of neurological abnormalities are a cause for concern, and parents should not be afraid to share concerns with a pediatrician. A doctor would much rather have early problems drawn to his or her attention than see a patient when problems have become much more severe because parents delayed treatment out of shyness.
Because the damage to the brain is already done, porencephaly cannot be cured. However, a variety of techniques can be used to manage symptoms, including physical therapy, speech therapy, and medications to minimize seizures. Proper supportive care can help a patient with porencephaly lead a normal, active life, but parents usually need to be proactive advocates for their children to ensure that they get the care and support they need. Parents should not blame themselves if porencephaly develops in a child; usually there is nothing which can be done to prevent it, beyond getting early treatment for strokes and infections to reduce the damage caused by these medical problems.