Fmgemciexamalmost 6 years ago

Encephalocele

An encephalocele is a rare congenital (present at birth) type of neural tube defect where part of the skull has not formed properly so a portion of brain tissue and associated structures are outside the skull. The protruding sac may be covered with skin or it may be covered with a thin membrane. In early development, the brain and spinal cord start as a tube-like structure called the ‘neural tube’ that is open at either end. These openings close within the first weeks of pregnancy, and the neural tube continues to grow and fold, eventually forming the brain and spinal cord. If the tube fails to close properly, this results in a group of problems called ‘neural tube defects’. We do not really understand what causes neural tube defects in general but we do know that folic acid can reduce the risk of them happening in future pregnancies. More information about this is at the end of this information sheet. In most cases, an encephalocele has developed sporadically (out of the blue) and is not passed on from parent to child. However, an encephalocele can be a feature of various syndromes (collection of symptoms often seen together), such as Dandy Walker syndrome, Chiari malformation or many others, which may have a genetic component.