What are the Types and Locations of Encephaloceles?

Encephaloceles can happen in different places along the skull. They are often named for where the pouch occurs. For example:

• Occipital encephalocele forms at the back of the head. This is the most common type of encephalocele in Western countries.
• Temporal encephalocele forms on the side of the skull.
• Frontal encephalocele forms at the front of the skull. This type often looks like a mass on the forehead.
• Nasofrontal encephalocele is a specific type of frontal encephalocele where brain tissue bulges out between the nasal and frontal bones. This may cause a visible bump between the eyes.
• Nasal encephalocele forms in the nasal (nose) cavity between or above the eyes.
• Basal encephalocele forms at the base of the skull, often going into the nasal cavity or the pharynx (windpipe). These can be hard to see and diagnose.

What are the Causes of Encephalocele?

The exact cause of encephalocele is unknown. It's believed to result from genetic and environmental factors. Some potential risk factors include:

• Family history of neural tube defects
• Not enough of a type of vitamin called folic acid before and during pregnancy
• Taking certain medicines for seizures and some kinds of antibiotics during pregnancy
• Exposure to heavy metals, pesticides and solvents during pregnancy

Taking certain steps may reduce the risk of encephalocele:

Early and regular prenatal care is important to keep you and your baby healthy during pregnancy. These checkups help your doctor make sure your baby is growing well and spot any issues early.

Getting enough folic acid before and during pregnancy is important. You can find folic acid in prenatal vitamins and certain foods like leafy vegetables and beans. Most women need more folic acid during pregnancy than diet alone can provide. Experts recommend 400 to 800 micrograms of folic acid daily during pregnancy, but check with your doctor about what is right for you.

It’s also important to avoid harmful substances like heavy metals and pesticides during pregnancy. You can find heavy metals like lead and mercury in old paint and even some types of water pipes. Some fish, like shark and swordfish, may have heavy metals in them. Talk to your doctor about foods and substances to avoid while you are pregnant.

What are the Signs and Symptoms of Encephalocele?

Encephaloceles form when part of the baby’s skull doesn’t close properly. This leaves an opening where a pouch of brain tissue sticks out. It is usually covered by skin or hair, and might look like a balloon coming from your baby’s head. The pouch can be anywhere on the baby’s head, but it’s usually on the forehead or the back of the head.

Other symptoms may include:

• Hydrocephalus (a larger than normal head due to excess brain fluid). Your baby’s head may seem bigger or the soft spot on their head might feel tight or full.
• Developmental delays. This can mean your baby might take longer to reach milestones like rolling over, sitting up or crawling.
• Vision problems like bulging or crossed eyes and decreased vision. It may be hard to notice at first, but over time, your baby might have trouble focusing or tracking objects with their eyes.
• Seizures. You might notice unusual movements, like jerking, twitching or stiffening, that seem out of the ordinary.
• Spastic quadriplegia (paralysis of the arms and legs). Your baby may have stiff or floppy arms and legs or may struggle to move them.

How is Encephalocele Diagnosed?

Encephalocele is usually diagnosed during routine prenatal ultrasounds. After birth, doctors can confirm the diagnosis through physical examination and imaging tests like MRI or CT scans.

A small encephalocele in the nose or forehead may go unnoticed. These small openings may not necessarily cause any problems for your baby or lead to symptoms as they grow.

How is Encephalocele Treated?

The treatment for encephalocele is surgery to remove the tissue that is coming out of the skull and repair the scalp and skull to close the opening. The timing and approach of surgery depend on the size and location of the encephalocele.

Sometimes, the surgery requires bone grafting and reconstruction:

• Bone grafting: Doctors take a piece of bone from another part of the body or use a special material to fix the skull. It is like using a patch to cover a hole.
• Reconstruction: Building the skull or face again to make it stronger and look more normal.

Because babies are small, doctors may have to wait to do the surgery until the baby has grown enough and there is enough skin or bone to work with. This can take six months to a year. In these cases, waiting can often reduce the number of surgeries the child needs and lead to a better outcome.

Surgical goals include:

• Removing the sac that sticks out
• Repairing the skull
• Preventing infection
• Treating conditions like hydrocephalus. This can require additional surgery, such as placing a shunt.

The Risk of Hydrocephalus

One of the most common and serious issues that can develop is hydrocephalus. Hydrocephalus can occur before or after surgery for encephalocele.

Hydrocephalus often requires a shunt to relieve the pressure caused by fluid buildup on the brain. A shunt is a flexible tube with a valve that helps drain the extra fluid to another part of the body so it can be absorbed. If left untreated, hydrocephalus can lead to increased pressure on the brain, developmental delays, vision problems and other neurological (brain) problems.

Your child’s doctor will look for hydrocephalus before and after encephalocele repair surgery.

What is the Prognosis for Encephalocele?

The long-term outlook for children with encephalocele depends on several factors:

• Size and location of the defect
• Amount of brain tissue involved
• Any other abnormalities, genetic disorders (passed down from parents) or congenital defects (things they were born with)
• Timing and success of surgery

Some children may have few long-term effects. Others may face many developmental challenges, seizures or disabilities.

Children with encephalocele often need ongoing medical care and support after surgery. This may include:

• Regular follow-up appointments with neurosurgeons and other specialists
• Developmental assessments and support
• Physical and occupational therapy
• Special education services

The degree of independence and function can vary between children. With proper care and support, many children with encephalocele can lead fulfilling lives.