Perencephaly is a rare congenital malformation that affects the brain development of a fetus during pregnancy. It is a severe neurological disorder characterized by the incomplete formation or absence of major parts of the brain, leading to severe developmental delays and intellectual disabilities.
In perencephaly, there is a failure of the forebrain, which includes the cerebral hemispheres, to develop properly. As a result, the skull does not close completely, leaving a significant portion of the brain exposed. The remaining brain tissue may be severely disorganized and malformed.
The exact cause of perencephaly is not well understood, although it is believed to be primarily due to genetic abnormalities or disruptions during early embryonic development. Certain factors, such as maternal exposure to certain medications or substances, may increase the risk.
Newborns with perencephaly usually exhibit marked neurological abnormalities, including profound intellectual disabilities, seizures, and difficulties with muscle control. They may also have physical abnormalities, such as cleft lip or palate, and may experience respiratory and feeding difficulties.
Unfortunately, perencephaly is generally considered to be a lethal condition, with most affected infants not surviving beyond the first few weeks or months of life. There is currently no cure for perencephaly, and treatment primarily focuses on managing symptoms and providing supportive care to maximize comfort and quality of life for affected individuals and their families.
