Encephalocele

What is Encephalocele?

Encephalocele is a birth defect where brain tissue grows through an opening in the skull, occurring due to a closure issue of the neural tube's upper end during the early weeks of pregnancy. This condition can slightly or significantly impact a baby's life.

Causes of Encephalocele

Encephalocele is usually congenital. However, it can also be seen in some cases due to tumors, trauma, or idiopathic reasons. Congenital encephalocele involves a piece of tissue that is the early version of the neural tube, brain, and spinal cord.

During the third and fourth weeks of pregnancy, it forms a tube shape. If the top part of this tube does not close as it should during this time, the skull does not close completely, allowing part of the brain to grow through this opening.

The exact reason why the neural tube does not close completely is not known. Research suggests it could occur due to the following reasons:

• Genetic changes during fertilization
• Toxoplasmosis
• Rubella
• Cytomegalovirus
• Herpes simplex virus
• Conditions like type 3 Chiari malformation

Underlying medical conditions can also lead to encephalocele, including:

• Walker Warburg syndrome
• Knobloch syndrome
• Roberts syndrome
• Amniotic band syndrome

Symptoms of Encephalocele

Symptoms of encephalocele include:

• Headaches
• Visual problems
• Weakness in arms and legs
• Smaller than expected head size at birth
• Uncoordinated movements
• Facial deformities
• Nasal congestion
• Leakage of spinal fluid from the nose or ears

Symptoms depend on the size and location of the skull opening and the amount of brain tissue outside at birth, and may be associated with fluid accumulation in the brain.

Diagnostic Criteria for Encephalocele

Encephalocele can be diagnosed in unborn babies with the help of ultrasound. If the expert suspects this condition, prenatal MRI imaging can be requested. Diagnosis is confirmed immediately after birth through physical examination. Further blood and imaging tests help understand potential health problems.

On the other hand, it is possible that small skull openings are not diagnosed. These usually occur near the baby's nose or forehead. Small encephalocele openings generally do not cause symptoms or complications that affect newborns or as babies grow.

Encephalocele Treatment Methods

Treatment for encephalocele includes surgical intervention to repair the skull and remove the extruding brain tissue, which is usually non-functional. In cases of small skull openings, the extruding tissue may be pushed back into the skull rather than removed, to repair the skull.

Encephalocele treatment is typically performed within the first year of a baby's life. The timing of the surgery varies depending on the location, size of the opening, and the symptoms caused. Additionally, multiple surgeries are usually required for treatment.

Surgical intervention also addresses facial deformities and hydrocephalus in infants. As the child grows, the following treatments may be needed for issues caused by the encephalocele:

• Special education programs in schools
• Seizure medications
• Glasses for visual problems

Side Effects of Encephalocele Surgery

Like all surgeries, encephalocele treatment can have side effects, including:

• Infection
• Spinal fluid leakage
• Bleeding

The risk of neurological problems is higher in cases where the opening is large and the surgery involves manipulating brain tissue.

What Health Issues Can Encephalocele Cause in Infants?

In cases with small skull openings, the likelihood of complications is extremely low. However, in cases with large skull openings, potential long-term health issues include:

• Developmental delays
• Cognitive development issues
• Visual problems
• Delayed growth
• Seizures

Risks of Encephalocele

Having a family history of neural tube defects increases the risk of encephalocele. Additionally, insufficient intake of folic acid before and during pregnancy also increases the likelihood of having a neural tube defect.

How to Reduce the Risk of Encephalocele During Pregnancy?

While there is no known way to prevent encephalocele, taking adequate amounts of folic acid during pregnancy can significantly reduce the risk of neural tube defects. It is recommended to start taking folic acid before pregnancy because neural tube defects occur in the first month of pregnancy.