Encephalocele. This name must be unfamiliar to your ears. It is a rare birth defect condition, causing the brain to develop ‘outside’ your fetus’ skull.
How does this happen and can it be treated? Here are explanations from several trusted sources
Definition of Enchephalocele
Encephalocele(pronounced en-sef-a-lo-seal) or encephalocele is a rare type of birth defect in which the neural tube fails to close and causes a sac-like bulge of brain tissue and spinal fluid to protrude through the skull, affecting the baby’s brain.
The brain and spinal cord form during the third and fourth weeks of pregnancy. They are formed from the neural tube. When the neural tube does not close completely, an encephalocele occurs, which can cause a sac-like protrusion or projection with brain tissue and spinal fluid protruding through the openings of the skull.
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Encephalocelecan occur anywhere on the skull, from the nose to the back of the neck. However, most often in the back of the head, on the top of the head, or between the forehead and nose.
This condition can be life-threatening. How serious the treatment is and the baby’s chances of survival depend on its position in the skull.
PagesRare Diseaseswriting data from the Metropolitan Atlanta Congenital Defects Program, which states that most deaths in children with encephalocele occur in the first day of life and the estimated chance of survival to age 20 is 67.3 percent.
Factors associated with increased mortality are low birth weight, the presence of multiple defects rather than a single defect, and Black or African American ancestry.
Another name forEncephalocele:
- Cephalocele
- Craniocele
- Bifid cranium
Signs and Symptoms of Encephalocele
Sometimes, encephaloceles are not discovered until the baby is born, and sometimes they are only discovered later in childhood, when a child begins to experience physical or mental delays.
Signs of encephalocele may include:
- Buildup or too much fluid in the brain (called hydrocephalus ).
- Total loss of strength in the arms and legs.
- Unusually small head size.
- Clumsy or uncoordinated muscle movements. For example, difficulty walking or reaching for things.
- Delayed growth and development.
- Intellectual disability.
- Have vision problems .
- Problems with breathing , heart rate, and swallowing.
- Seizures .
Causes of Enchephalocele
The CDC also stated that the exact causeencephaloceleis unknown. However, scientists believe that many factors are involved, including:
- Genetics. This condition often occurs in families who have family members with other neural tube defects, such as spina bifida andanencephaly.
- History of Diabetes. Usually there are medical problems in the mother, one of which is her mother has diabetes.
- Chemical Exposure. There is some evidence that exposure to toxic chemicals, including certain medications, may increase the risk of having a baby with encephalocele. Some researchers also believe that certain environmental exposures before or during pregnancy may be a cause. However, more research is needed on this.
Frequency of Encephalocele Occurrence
Researchers, says the Centers for Disease Control and Prevention (CDC), estimate that about 1 in every 10,500 babies is born with encephalocele in the United States. To be precise, citing the pageRare Diseases, the number is up to 375 babies born each year.
In baby girls, encephaloceles tend to occur at the back (occipital region) of the skull, while baby boys often experience them at the front of the skull. While in Western populations, encephaloceles are more common at the back of the skull, and in Southeast Asia they are more common at the front of the skull.
Risk Factors for Enchephalocele Cases
Quoting the pageNationwide Children’s, certain types of encephaloceles are also more common in women with diabetes.
Babies with encephaloceles often also have chromosome, brain, and facial problems. While scientists don’t know what causes encephaloceles, there is evidence that women who eat plenty of foods with folate (Vitamin B9) while they’re pregnant are less likely to have babies with the condition.
Diagnosis of Encephalocele
Usually encephalocele can be easily found immediately after the baby is born. However, in some cases where the size of the encephalocele is very small, such as in the nose or forehead area, encephalocele becomes more difficult or can go undetected.
When you are pregnant, there are several tests (called prenatal tests) that can help your doctor know if your baby has encephalocele.. Encephaloceleusually found during a prenatal ultrasound.
If your doctor suspects your unborn baby may have an encephalocele, you may have more tests that can provide information to help your doctor know what your baby’s condition will be like after birth.
These tests include:
- Fetal MRI (magnetic resonance imaging): A non-invasive imaging test to get clear, more detailed images of the baby’s organs, especially the brain.
- Fetal Echocardiogram : A special ultrasound used by a pediatric cardiologist (cardiologist) to take a close look at your baby’s heart and the surrounding blood vessels.
Some inherited conditions can also be caused by changes in your baby’s DNA, or genetic makeup. Your doctor may suggest that you have genetic testing to learn more about your baby’s DNA. This can happen during pregnancy or after delivery.
Recommended tests may include:
- Cell-Free fetal DNA testing : A screening test in which a sample of your blood is taken to look for copies of the baby’s DNA. A positive result means there may be a problem with the baby’s DNA, but it must be confirmed with other tests. A normal result does not mean there is no underlying genetic problem.
- Amniocentesis : A medical procedure in which a small amount of amniotic fluid is withdrawn and studied to screen for genetic problems. This test is usually done in the middle of the second trimester. Amniocentesis can be used to confirm findings on a cell-free fetal DNA test.
- Testing in babies: After birth, tests are done on a sample of the baby’s blood to look for chromosome problems. This is called a “karyotype” (a basic chromosome study), or a microarray (a more detailed look at smaller sections of DNA).
The Role of Folic Acid in Preventing Enchepalochele
So far, the CDC is working with many other researchers to study factors that may:
- Increases the risk of having a baby with encephalocele, or
- Impact of health outcomes on babies with encephalocele
From the previous research, one way to prevent this was found.encephalocele, namely by consuming folic acid (vitamin B9) before and during pregnancy.
Encephaloceleis part of a group of nervous system disorders called neural tube defects. Getting enough folic acid (400 micrograms) every day before and during pregnancy can help prevent some major birth defects of the baby’s brain and spine, such as encephalocele.
Folate is found in green leafy vegetables, beans, citrus fruits, and fortified breakfast cereals. You can also get folate in prenatal vitamins .
If you are pregnant or thinking about becoming pregnant, talk to your doctor about ways to increase your chances of having a healthy baby.
Encephalocele Management
Surgical intervention is usually required for children with encephaloceles between birth and 4 months of age. Depending on the size, location and associated complications and whether the skin layer covers the encephalocele.
If there is a layer of skin and it acts as a protective covering, surgery can be delayed for several months. If there is no layer of skin protecting the encephalocele, surgery may be recommended immediately after birth.
The surgical procedure involves reinserting the protruding encephalocele contents into the skull by cutting and removing part of the skull (craniotomy), allowing access to the brain.
However, neurological problems caused by encephalocele will remain. Also, long-term care depends on the child’s condition as well.
Possible Complications
Unfortunately, encephalocele can lead to miscarriage or stillbirth. Some families even choose not to continue the pregnancy.
Encephaloceles at the back of the skull are also more likely to cause nervous system problems, as well as other brain and facial defects.
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Thus the explanation regardingencephalocele,Parents. Hopefully this article is useful for you.
Republished with permission from theAsianParent Indonesia
