A rare birth defect called encephalocele affects the brain and skull's development. In this condition, part of the brain protrudes through an opening in the skull, causing a sac-like bulge. In some cases, encephalocele can result in serious complications, such as brain damage, seizures, hydrocephalus, and developmental delays, but with early diagnosis and treatment, many children can live a healthy and productive life.
During the first month of pregnancy, an encephalocele occurs when the neural tube (the structure that forms the brain and spinal cord) fails to close properly. Several factors may increase the risk of neural tube defects, but the exact cause is unknown.
Genetic mutations or chromosomal abnormalities.
Maternal diabetes or obesity.
Lack of folic acid (vitamin B9) intake before and during pregnancy.
Exposure to certain medications, chemicals, or infections.
The most common type of encephalocele is a bulge on the head, which may be covered by skin or hair. The size and location of the bulge may vary depending on how much brain tissue is involved.
Occipital: The bulge is at the back of the head, near the base of the skull.
Frontoethmoidal: The bulge is near the forehead, between the eyes, or behind the nose.
Parietal: The bulge is on the top of the head, near the back.
Sphenoidal: The bulge is in front of or behind the ears.
Some children with encephalocele may not have any other symptoms, while others may have additional problems, such as:
Facial deformities or cleft lip and palate.
Vision problems or blindness.
Hearing loss or ear infections.
Breathing difficulties or nasal obstruction.
Cognitive impairment or learning disabilities.
Motor delays or coordination problems.
Behavioral issues or emotional problems.
Seizures or epilepsy.
Hydrocephalus (excess fluid in the brain) or meningitis (inflammation of the membranes around the brain and spinal cord).
Encephalocele can be diagnosed before or after birth, depending on the severity and visibility of the condition. Some of the tests that can help detect encephalocele are:
Encephalocele can be detected as early as the first trimester of pregnancy, especially if the bulge is large or in the front of the head. Ultrasound is a noninvasive imaging test that uses sound waves to create pictures of the developing fetus inside the womb.
The fetal MRI is a non-invasive imaging tool that uses magnetic fields to create detailed images of the fetus's organs, especially the brain. It can help determine the extent and location of encephaloceles as well as other brain abnormalities.
This noninvasive imaging test uses sound waves to examine the structure and function of a fetus's heart. An echocardiogram can help identify any heart defects associated with encephaloceles.
In order to detect genetic mutations or chromosomal abnormalities that may cause encephalocele, a blood test is conducted to examine the DNA of the fetus or the parents. It is possible to conduct genetic tests during pregnancy or after birth, depending on the parent's preference and availability.
In order to treat encephalocele, surgery is used, which removes the bulge, repairs the opening in the skull, and restores its normal shape. The timing and technique of surgery may vary depending on the size, location, and complexity of the encephalocele, which is usually performed within the first few months of life. Several factors may affect the outcome of the surgery, including:
It is usually easier and more likely to have a better prognosis if the bulge contains just cerebrospinal fluid (the fluid that surrounds and protects the brain and spinal cord). There is a risk of brain damage or seizures if the bulge contains functional brain tissue, making surgery more complicated and the prognosis worse.
The presence of other brain abnormalities: If the encephalocele is associated with other brain defects, such as hydrocephalus, Chiari malformation, or agenesis of the corpus callosum, the surgery may be more difficult and the prognosis may be worse, as more neurological complications or developmental delays may result.
Having other congenital anomalies: An encephalocele may be more challenging to operate on if there are other birth defects, such as facial deformities, heart defects, or spinal problems, as there may be more medical or cosmetic complications.
In addition to surgery, some children with encephalocele may need other treatments or interventions, such as:
Medications: To prevent or treat seizures, infections, or pain.
Shunts: To drain excess fluid from the brain and prevent hydrocephalus.
Ventilation: To assist breathing and prevent respiratory problems.
Feeding tubes: To provide nutrition and prevent swallowing difficulties.
Physical therapy: To improve muscle strength and coordination.
Occupational therapy: To enhance daily living skills and independence.
Speech therapy: To improve communication and language development.
Vision therapy: To correct vision problems or blindness.
Hearing aids: To improve hearing loss or deafness.
Special education: To address learning disabilities or cognitive impairment.
Counseling: To cope with emotional problems or behavioral issues.
There is no sure way to prevent encephalocele, as the exact cause of the condition is unknown. However, some steps that may reduce the risk of neural tube defects include:
If your healthcare provider suggests folic acid supplements during and before pregnancy, you should take them. Folic acid is a vitamin that prevents birth defects by helping the neural tube close properly. The recommended dose is 400 micrograms per day for most women, and 4 milligrams per day for women who have had a previous pregnancy with a neural tube defect.
Eating a healthy diet that includes foods rich in folic acid, such as leafy green vegetables, beans, nuts, eggs, and fortified cereals and breads.
Avoiding alcohol, tobacco, and illicit drugs during pregnancy, as they can interfere with the development of the fetus and cause birth defects.
Avoiding exposure to certain medications, chemicals, or infections that may harm the fetus and cause birth defects. Consult your healthcare provider before taking any prescription or over-the-counter drugs, herbal remedies, or supplements during pregnancy.
Getting regular prenatal care and screening tests to monitor the health of the fetus and detect any problems early.
The outlook for children with encephalocele depends on a number of factors, including the type, size, and location of the encephalocele, the presence of other brain abnormalities or congenital anomalies, the timing and outcome of surgery, and the availability and quality of follow-up care. There are children with encephalocele who may have a normal or near-normal life expectancy and development, and others who may have severe disabilities and a shortened life span. Infections, respiratory problems, and seizures are the most common causes of death in children with encephalocele.
It is important to diagnose and treat children with encephalocele early, as well as to provide them with ongoing medical and supportive care to improve their outlook. Many children with encephalocele can overcome their challenges and reach their full potential with proper care and intervention.
