enzephalocele

Encephalocele is a rare neural tube defect characterized by a sac-like protrusion of the brain and the membranes that cover it through an opening in the skull. This condition occurs during fetal development when the neural tube, which forms the brain and spinal cord, does not close completely. The defect can occur anywhere along the midline of the skull, but is most commonly found at the back of the head.

The severity of encephalocele varies greatly. Some cases may be very small with minimal impact, while others can be large and contain significant portions of brain tissue. Associated symptoms depend on the size and location of the encephalocele, and can include intellectual disability, developmental delays, seizures, vision problems, and motor deficits. In some instances, the encephalocele may be covered by skin, while in others, it may be covered only by membranes or be completely open.

The exact cause of encephalocele is not fully understood, but it is believed to result from a combination of genetic and environmental factors. Factors that may increase the risk include maternal folic acid deficiency, certain infections during pregnancy, and exposure to certain medications or toxins.

Diagnosis is typically made during pregnancy through prenatal ultrasound or MRI. After birth, the diagnosis is confirmed with imaging studies. Treatment usually involves surgical repair to close the opening in the skull and return the protruding brain tissue to its proper place within the cranial cavity. The timing and success of surgery depend on the size and contents of the encephalocele, as well as the overall health of the infant. Early intervention is crucial to minimize potential complications and improve long-term outcomes.