NORD gratefully acknowledges Jeffrey A Kuller, MD, Professor of Obstetrics and Gynecology, Division of Maternal Fetal Medicine, Duke University Medical Center, for assistance in the preparation of this report.
Sporadic porencephaly is a rare disorder affecting the central nervous system. In porencephaly, cysts or cavities form on the surface of the brain. These cysts or cavities may become filled with cerebrospinal fluid, a colorless fluid that normally surrounds the brain and spinal cord to provide protection and nourishment. The severity and associated symptoms of porencephaly vary dramatically from one person to another based upon the size and exact locations of the fluid-filled cavities or cysts. Some infants develop serious complications shortly after birth; others individuals may have mild symptoms that may go undetected.
Porencephaly may be classified as sporadic or familial. Sporadic porencephaly can have many different causes including infection just before or just after birth (perinatal infection), trauma, maternal disease or sickness, maternal diabetes, or maternal use of alcohol or drugs such as cocaine during pregnancy. A distinct genetic form of porencephaly (not covered in this report) occurs due to mutations of the COL4A1 gene.
The terminology regarding porencephaly used in the medical literature has caused confusion. Some researchers break down porencephaly into type I (also known as encephaloclastic porencephaly) and porencephaly type II (also known as schizencephaly).
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