Encephalocele is a rare congenital condition characterized by the protrusion of brain tissue through an opening in the skull. It occurs when the neural tube, which normally develops into the brain and spinal cord, fails to close completely during fetal development. This results in a sac-like structure filled with brain tissue, cerebrospinal fluid, and meninges (protective membranes) that protrudes from the skull.
Encephalocele can occur anywhere along the midline of the skull, but it most commonly affects the back of the head or the area between the forehead and nose. The severity of encephalocele can vary, ranging from a small sac with minimal brain tissue involvement to a large sac that may contain significant portions of the brain.
Diagnosis of encephalocele is typically made through prenatal ultrasound or after birth through physical examination and imaging tests such as MRI or CT scan. Treatment usually involves surgical intervention to remove the sac and reposition the brain tissue back into the skull, followed by closure of the skull opening.
While the exact cause of encephalocele is unknown, it is believed to be a combination of genetic and environmental factors. The condition can lead to various neurological complications, including developmental delays, intellectual disabilities, seizures, and vision problems. Early intervention and ongoing medical care are crucial for managing the condition and optimizing the child's development and quality of life.