Encephalocele is a rare birth defect where part of the brain herniates through the skull due to a problem with fetal development. It can be diagnosed during pregnancy with ultrasound and may require surgery after birth. The causes are not fully understood, but there may be a genetic link.
Encephalocele is a very rare birth defect in which a problem with fetal development causes part of the brain to herniate through the skull. This condition is classified as a neural tube defect because it involves a problem with the development of the neural tube, the fetal structure that ultimately develops into the brain, spinal cord, and associated skeletal material. The severity of an encephalocele can vary considerably, as can the prognosis. About half of babies born with the condition die shortly after birth because the defect is so severe.
Due to the widespread use of prenatal ultrasound, encephalocele is often diagnosed during pregnancy because the defect can be easily seen on an ultrasound. If a fetus appears to have encephalocele, a doctor may recommend more medical imaging studies such as a fetal MRI scan to learn more about the severity of this condition and develop a treatment plan. Usually, this condition does not affect the course of pregnancy, although a doctor may recommend a C-section for delivery to avoid trauma to the herniated brain tissue.
It is estimated that 80% of fetuses with encephalocele die before delivery because the defect is so severe as to be incompatible with life. Treatment for surviving patients with this condition is surgery soon after birth to correct the defect and repair the skull to prevent future hernias. The best prognosis is for patients who have the encephalocele in the anterior part of the skull, while patients with a hernia in the back of the skull may experience severe developmental delays, quadriplegia and other problems due to brain abnormalities.
Sometimes, a very mild encephalocele goes undiagnosed during pregnancy and isn’t noticed after birth because it’s so subtle. In these cases, parents may notice developmental delays or the development of facial abnormalities, and a doctor can diagnose encephalocele after a thorough examination. Treatment for these infants and children also usually involves surgery to correct the condition before it gets worse.
The causes of encephalocele are not fully understood. There appears to be a genetic link, as with many neural tube defects, but sometimes there isn’t a clear genetic connection. Parents who receive a diagnosis of encephalocele shouldn’t blame themselves or wonder if they could have done something different, and instead focus on the care they can offer their child. It may be helpful to see a genetic counselor after a diagnosis to receive tests that may reveal a genetic predisposition for neural tube defects, as this information may be helpful to parents planning future pregnancies.
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