What Is Encephalocele?
Cranial encephalocele is a rare condition that occurs before birth. Normally, the third and fourth weeks of pregnancy are when the brain and spinal cord form. The neural tube is where they originate from. When the neural tube fails to close completely, the majority of encephaloceles occur. This should occur when the brain, nervous system, and skull of the baby begin to form. A sac-like bulge filled with brain tissue and spinal fluid that protrudes through the skull can result from a neural tube that fails to close properly. Encephaloceles can be a life-threatening condition. Depending on where it is on the skull, the severity, the treatment, and the likelihood of survival of the baby are all affected. Chromosome, brain, and facial issues are frequently present in babies born with an encephalocele. Even though scientists do not know what causes encephaloceles, there is evidence that pregnant women who consume a lot of folic acids (vitamin B9)-rich foods have a lower chance of having a child with the condition. Women with diabetes are also more likely to develop certain types of encephaloceles.
What Causes Encephalocele?
Encephaloceles are caused by unknown factors. There are probably a lot of things that cause it to happen. Encephalocele is linked to a number of genetic syndromes. Encephalocele development has been linked to maternal medical conditions like diabetes. Some evidence suggests that having a child with encephalocele may be more likely if they are exposed to toxic chemicals, such as certain medications. The underlying cause of the encephalocele is frequently elusive.
The Role of Folic Acid: Neural tube defects are a group of disorders that affect the nervous system. Encephalocele is one of them. Neural tube defects can be preventable by the intake of enough folic acid (vitamin B9) before and during pregnancy. Leafy green vegetables, beans, nuts, citrus fruits, and breakfast cereals with added folic acid are all sources of the vitamin. In addition, prenatal vitamins can also provide folic acid.
How Is Encephalocele Diagnosed?
Prenatal tests are a set of procedures that doctors use to determine whether the unborn child will have an encephalocele. Typically, an encephalocele is discovered during a prenatal ultrasound. However, if the doctor thinks the baby might have an encephalocele, the mother might have to have additional tests to determine what to expect when the baby is born. These tests may include the following -
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Fetal MRI (Magnetic Resonance Imaging) - A non-invasive imaging procedure to obtain a clearer, more in-depth image of the organs of the baby, particularly the brain.
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Fetal Echocardiogram - A special ultrasound used by a pediatric heart doctor (also known as a cardiologist) to get a close-up look at the heart of the baby and the blood vessels surrounding it.
Other Tests:
Changes in the DNA (deoxyribonucleic acid), or genetic makeup of the baby, can lead to some congenital conditions. The doctors may recommend genetic testing to learn more about the genetics of the baby. This can happen during or after pregnancy. Recommended tests may include the following -
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Cell-Free Fetal DNA Testing - A screening test where a blood sample is taken to look for fetal (baby) DNA copies. If the test comes back positive, there may be issues with the DNA. A different test should be used to confirm it. A normal result does not imply that any underlying genetic issues are absent.
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Amniocentesis - A medical procedure that involves obtaining a small amount of amniotic fluid and studying to detect genetic problems. Typically, this test is performed in the middle of the second trimester. The cell-free fetal DNA test can be used to confirm the results with an amniocentesis.
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Testing the Baby - A blood sample of the baby is used in a test to look for chromosome issues after birth. A karyotype (basic chromosome study) or a microarray (more in-depth examination of smaller DNA fragments) are both terms used to describe this.
What Are the Signs and Symptoms of Encephalocele?
Encephalocele can sometimes be discovered after the baby is born when defects are easier to see. Sometimes, the condition is only discovered in later childhood when a child exhibits mental or physical delays.
Encephalocele signs and symptoms can include:
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Hydrocephalus is when there is too much fluid in the brain.
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Weakening of the legs and arms.
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A tiny head.
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Awkward muscle movement, such as when walking or reaching.
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Retardation in development and growth.
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Difficulties seeing.
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Difficulties with swallowing, breathing, and heart rate.
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Seizures (abnormal brain electrical activity).
How Is Encephalocele Treated?
The majority of children with encephalocele require surgery to fix their skulls and move brain tissue. After birth, surgery is typically performed within a few days or months. After birth, the baby will require a brain ultrasound and MRI. The healthcare team will receive comprehensive information about the size and contents of the encephalocele. It will also assist in determining whether additional brain issues exist.
An echocardiogram (ultrasound images of the heart) or a renal (kidney) ultrasound will be performed if there are concerns regarding issues with other organs like the heart or kidneys. Genetic testing may also require the drawing of blood.
The medical team will talk with the mother about possible treatment options based on the results of all the tests that were done before and after the birth, as well as a careful look at the baby. Options for treatment depend on the size of the encephalocele, how the brain has been affected, the goals and wishes of the mother for her baby, and any other issues the baby may have. Many babies with encephalocele need surgery. Some families may prefer not to go for any aggressive medical and surgical treatments if a baby has severe problems from the encephalocele. The palliative care team, which involves nurses, clergy, and social workers, can give the mother and her family the support they need.
Surgery:
Changing the position of any bulging brain tissue or spinal fluid back inside the skull and closing the gap are the primary objectives of the surgery. It may be necessary to perform additional medical procedures simultaneously to:
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Reduce the accumulation of fluid in the brain (hydrocephalus).
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Repair any other defects.
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Treat medical conditions that occasionally arise with encephalocele.
To monitor the baby's growth, development, and nutrition, regular follow-up visits with the medical team will be necessary. Due to the fact that encephalocele can be linked to inherited disorders, the doctor may also recommend genetic counseling to discuss the risks associated with a future pregnancy. For example, if a parent already has a child with a neural tube defect and wants to have another, the doctor may tell the woman to take more folic acid and give her a supplement. They can take it one to two months before they become pregnant and continue taking it for the first three months of their pregnancy. This may lower the likelihood that a child will be born with an encephalocele.
Conclusion:
Cranial encephalocele is a rare congenital disorder. The majority of children with encephalocele experience mental development issues. Additionally, children with encephalocele are susceptible to seizures. The goal of care for children born with an encephalocele is to prevent issues and boost the child's abilities. The child may benefit from physical and occupational therapy as well as early intervention.
