Overview

An encephalocele is a rare congenital type of neural tube defect (NTD) where part of the skull has not formed properly during fetal development, 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 can occur anywhere along the skull, but most common in the back of the head, top of the head, or between the forehead and nose with multiple complications like Buildup of fluid in the brain, loss of strength in the arms and legs, developmental delay, intellectual disability, seizures. Encephaloceles can vary in size, from a small protrusion to a sphere that’s the same volume as the skull. If the encephalocele is large, the baby’s head may be too big to fit through the birth canal, which may require a cesarean section. Treatment usually happens shortly after birth or within the first few months to a year, depending on the size, location and effects the condition has on your baby. Children usually need more than one surgery to treat this condition. Surgery can also treat facial growth irregularities and hydrocephalus.

Types of encephalocele

The types of encephalocele identify the location of the opening in the skull:

• Occipital: The lower back of your baby’s head.
• Parietal: Top, nearest the back of your baby’s head.
• Frontoethmoidal (also called sincipital): Near your baby’s forehead.
• Sphenoidal: Front-middle or behind your baby’s eyes and in front of their ears.

In addition, you may hear your child’s healthcare provider mention two broader categories of encephalocele:

• Anterior: Front of your child’s skull.
• Posterior: Back of their skull.

Causes

A newborn with encephalocele will have a gap in their skull that isn’t closed. This causes a bulge or sac of brain tissue covered in skin coming out of the skull opening. This can look similar to a balloon coming out of your child’s head. Depending on where the skull opening is, the skin on the sac may have hair on it.

Most encephaloceles are congenital (meaning you’re born with it), but some can be acquired as a result of trauma, tumor or other rare conditions such as idiopathic intracranial hypertension.

The skull opening can happen anywhere on their head. It’s most common on the forehead or the lower back of their head near the base of your baby’s skull.

The exact reason why the neural tube doesn’t close completely is unknown. Research suggests it could be the result of:

• A genetic change that happens during conception.
• An infection (toxoplasmosis, rubella, cytomegalovirus, herpes simplex virus).
• A neurological (brain or nerve) condition (like type 3 Chiari malformation).

An underlying medical condition may lead to encephalocele. These conditions include:

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

Signs and symptoms

• Headache.
• Visual problems.
• Muscle weakness in arms and legs.
• A smaller-than-expected head size at birth.
• Uncoordinated movements (ataxia).
• Facial malformations.
• Nasal obstruction.
• Spinal fluid leaking from nose or ear.

Diagnosis and Tests

If the encephalocele is large, it may be seen on routine prenatal ultrasound, which may allow planning of a caesarean section if it could be risky to have the baby vaginally. Otherwise, in most cases an encephalocele will be visible at birth so is easily diagnosed. Very small encephaloceles, especially those in the nose/forehead area may not be so visible.

Once an encephalocele is suspected, the diagnosis will usually be confirmed with imaging scans, such as magnetic resonance imaging (MRI) scans. This will allow doctors to see exactly how much of the skull is affected and whether the sac contains meninges or brain tissue or both.

As encephaloceles can be associated with other problems, so the doctors will examine the child closely to check if this is the case.

Treatment and Prevention

Treatment for encephalocele is surgery to repair the skull and remove brain tissue that grew outside of the skull. Often, the portion of the brain that’s outside of the skull isn’t functional and can be removed. When the opening is small, sometimes, the brain can be gently moved back into the skull before a surgeon repairs the skull.

Treatment usually happens shortly after birth or within the first few months to a year, depending on the size, location and effects the condition has on your baby.

Children usually need more than one surgery to treat this condition. Surgery can also treat facial growth irregularities and hydrocephalus.

As your child grows, they may need additional support to treat associated conditions like:

• Special education programs in school.
• Medications for seizures.
• Glasses for vision problems.

There’s no known way to prevent encephalocele. You can reduce your risk of having a child with a neural tube defect by getting plenty of folic acid.

Talk to your healthcare provider before you plan on becoming pregnant. They may recommend you take 400 mcg of folic acid daily, even if you don’t plan to get pregnant right away. Neural tube defects (NTDs) happen in the first month of pregnancy. This is often before you even know you’re pregnant, which is why it’s essential to start taking folic acid early.

In addition, let your healthcare provider know if you have a family history of NTDs or if you had a child with an NTD. Your provider can help you prevent future NTDs.

To conclude

Babies can survive encephalocele. Treatment with surgery to repair the skull can help them survive. Babies with large skull openings may have more symptoms and complications than babies with smaller openings. This increases their risk of life-threatening outcomes or a shorter life expectancy.

Studies found that newborns with skull openings near the front of their heads have a better outcome than babies with openings in the back of their heads.

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