Encephalocele

Overview

An encephalocele (say: en-SEF-uh-loh-seel) is a rare birth defect of the skull and brain. While a baby is growing in the womb, the skull normally closes over the brain. In an encephalocele, a gap stays open, and part of the brain and its coverings push out through that gap. This creates a bulge that is usually covered by skin or a thin, clear membrane. It can look like a small sac on the baby's head. It is most often at the back of the head, but it can also be at the front near the nose or eyes, or hidden inside the nose. An encephalocele is one kind of 'neural tube defect' — a problem that happens very early in pregnancy, when the brain and spinal cord are forming.

No. An encephalocele is rare. It is one of the less common neural tube defects, and rates vary widely between countries and regions.

It can affect any baby, and it is always present from birth. It is not caused by anything a parent did or did not do. Some babies also have other problems with the brain or skull, and some have a genetic condition, so doctors often check for these too.

Symptoms

Common symptoms

• A soft bulge or sac on the head, face, or near the nose that is there at birth
• The bulge may be covered by normal skin or by a thin, shiny membrane
• The bulge can be small or large, and may be soft or firm to touch
• Sometimes the head grows faster than expected, which can be a sign of extra fluid around the brain (hydrocephalus)
• Sometimes there is a small dimple, tag of skin, or unusual shape near the nose or forehead

Symptoms in children

• Milestones that come later than expected, such as sitting, walking, or talking
• Seizures (fits)
• Problems with eyesight, or eyes that do not move together
• Feeding difficulties, slow weight gain, or trouble swallowing
• A head that is growing quickly, or a baby who is very sleepy or very fussy
• Weakness in an arm or leg, or unusual muscle tightness

Symptoms in older adults

• Most people with an encephalocele are diagnosed at birth. Some small ones at the base of the skull are only found in adulthood.
• Adults diagnosed later may have repeated bouts of meningitis (an infection of the lining of the brain), clear fluid dripping from the nose, headaches, or hearing changes.
• Adults who had surgery as a child may need lifelong follow-up and should report new headaches, vomiting, or drowsiness to their doctor.

Causes

Main causes

• An encephalocele happens when part of the skull does not close completely in the first few weeks of pregnancy — usually before a woman knows she is pregnant.
• The exact cause is not fully understood. It is likely a mix of genes and things in the environment rather than one single cause.
• It is not caused by anything the mother did, ate, or thought during pregnancy.

Risk factors

• Not getting enough folic acid (a B vitamin) before and in the early weeks of pregnancy
• A family history of neural tube defects, or a previous child with one
• Taking some medicines in early pregnancy, such as certain epilepsy medicines — always talk to a doctor before pregnancy if you take regular medicine
• Diabetes in the mother, especially if blood sugar is not well controlled
• Obesity in the mother
• Some rare genetic conditions or chromosome changes
• Certain ethnic backgrounds and regions where rates are higher

When to see a doctor

See a doctor urgently if:

• If you are pregnant and a scan shows a possible problem with your baby's skull or brain, contact your maternity team straight away
• Any leak of clear fluid from the nose or from a bulge
• Fever, redness, or swelling around a bulge or a scar
• A seizure, sudden weakness, or a drop in awareness at any age

Book a routine appointment if:

• When planning a pregnancy, especially if you have a family history of neural tube defects or take regular medicine
• At your routine antenatal visits, so your midwife can arrange the usual scans and blood tests
• If your child is missing milestones, has feeding problems, or has any change in behaviour or head size
• For planned follow-up checks after surgery — these continue as your child grows

Diagnosis

An encephalocele is often found before birth on an ultrasound scan, usually during the mid-pregnancy anomaly scan. Sometimes it is noticed for the first time when a baby is born. After that, doctors use imaging scans to see exactly where the gap is and which parts of the brain are involved. Later in life, a small encephalocele inside the nose or at the base of the skull may be found after repeated infections or a fluid leak.

Tests that may be done

• Ultrasound scan during pregnancy
• A blood test from the mother during pregnancy that can suggest a neural tube defect (it does not give a definite answer on its own)
• Amniocentesis or similar tests, if your team suggests checking for a genetic condition
• MRI scan, which gives a detailed picture of the brain and the opening
• CT scan, which shows the bones of the skull clearly
• A physical and eye examination after birth
• Hearing and developmental checks as your child grows

What to expect at your appointment

You will usually be cared for by a team rather than one doctor. That team may include a children's brain surgeon, a specialist in newborn care, a genetics doctor, and a midwife or children's nurse. They will explain what the scans show, talk you through the options, and help you plan the birth and the first few weeks. It can feel like a lot of information at once, so bring someone with you and write down your questions.

Treatment

The main treatment for an encephalocele is surgery. Before surgery, the team keeps the bulge clean and protected, checks the baby carefully, and treats any problems such as extra fluid around the brain. After surgery, care focuses on helping the child grow and develop, with therapies and regular check-ups.

Self-care at home

• Handle the bulge gently. Do not press on it, and do not try to cover it tightly without medical advice.
• Keep the area clean and dry, and follow any dressing instructions from your care team.
• Note any changes in size, colour, or wetness, and tell your team about them.
• Keep all follow-up appointments, even when your child seems well.
• Ask for help with feeding if it is difficult — feeding specialists can make a real difference.
• Make sure anyone who cares for your child, including nursery staff, knows about the condition and what to do in an emergency.

Medical treatments

Care is led by a specialist team. They will watch your child's head size, development, and general health closely. If extra fluid builds up around the brain, a surgeon can place a thin tube (called a shunt) to drain it. Children may need help from physiotherapists, speech and language therapists, and occupational therapists. If seizures happen, a specialist will choose and monitor medicines to control them. Hearing and vision are checked regularly, and some children need support at school. Every plan is tailored to the child, so ask your team why each step is being suggested.

When is surgery considered?

Most babies with an encephalocele need surgery. If the bulge is open or leaking fluid, surgery is done urgently, often within the first day or two, to lower the risk of infection. If the bulge is fully covered by skin, the team may wait a few weeks or months, depending on its size, where it is, and the baby's health. A small encephalocele hidden inside the nose or at the base of the skull may be repaired later in childhood or even in adulthood.

Living with this condition

Life with a child who has an encephalocele usually settles into a routine of appointments, therapy sessions, and ordinary family time. Your child may need regular checks on head size, vision, hearing, and development. Over time, many families become expert at spotting small changes and knowing when to call the team. It helps to keep a simple notebook of appointments, medicines, and any symptoms you notice.

Lifestyle tips

• Build a calendar or phone reminder for appointments and medicine times
• Ask your team for a written summary of warning signs and who to call
• Keep your child's records, scan reports, and operation details in one folder — you will be asked for them at different clinics
• Encourage play, movement, and ordinary childhood activities within any limits your team advises
• Take breaks. Caring for a child with extra needs is real work, and rest matters for you too

Diet and exercise

Most children can eat a normal, varied diet. If feeding or swallowing is hard, a feeding specialist can suggest safer textures and positions, and some children need extra calories to grow well. Physical activity is encouraged — it helps strength, balance, and mood. If your child has seizures, take sensible safety steps such as supervising baths and swimming, and ask your team about contact sports or activities where a knock to the head is likely.

Mental health and emotional wellbeing

It is very common for parents to feel shock, grief, anxiety, or guilt, and for brothers and sisters to feel overlooked at times. These feelings are normal and they can be helped. Talk to your team about counselling, and ask if a social worker or psychologist is available. If you ever feel you cannot cope, or you have thoughts of harming yourself, contact your local emergency number or a crisis support line in your country straight away — you deserve support, and help is available.

Prevention

Not every case can be prevented, and no parent should feel blamed. That said, some steps lower the chance of neural tube defects in general. The most important is taking folic acid (a B vitamin) before you get pregnant and in the early weeks of pregnancy, because the skull and brain form before many women know they are pregnant. If you are planning a pregnancy, ask your doctor, midwife, or pharmacist which supplement is right for you. It also helps to plan pregnancy carefully if you have diabetes, and to review any regular medicines with your doctor before trying to conceive.

Vaccines

There is no vaccine that prevents an encephalocele. Routine childhood vaccines are still important, as infections are more dangerous for children who have had brain surgery.

Screening programmes

Prenatal screening can find some, but not all, neural tube defects. The mid-pregnancy ultrasound scan and a blood test from the mother are offered in many countries, including through the NHS in the UK. Screening cannot tell you everything, and your team will explain what the results do and do not mean.

Complications

If left untreated

• Infection of the brain and its coverings (meningitis), which can be serious
• Rupture or leaking of the sac, which needs emergency care
• A build-up of fluid around the brain (hydrocephalus)
• Pressure on brain tissue, which can affect development
• Seizures, vision problems, or hormone problems if certain areas of the brain are involved
• Feeding and growth difficulties in babies

Long-term outlook

The outlook varies a lot from child to child. It depends on how much brain tissue is involved, where the opening is, whether it is covered by skin, and whether other conditions are present. Some children grow up with few lasting effects, while others need ongoing help with learning, movement, or seizures. Thanks to surgery and specialist follow-up, many children do well and go on to lead full lives. Your child's team can give you a clearer picture as time goes on, and it is fine to ask them again as your child grows.

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