Wednesday, June 17, 2009

What is an encephalocele?

An encephalocele (in-sef-a-luh-seal) is a rare disorder in which the bones of the skull do not close completely, creating a gap through which cerebral spinal fluid, brain tissue and the membrane that covers the brain (the meninges) can protrude into a sac-like formation. An encephalocele (sometimes called a cephalocele, or meningoencephalocele) is classified as a neural tube defect. The neural tube is the tissue of an embryo (term used to describe a developing baby to the eighth week after conception) that becomes the brain, spinal cord, and the bones surrounding each.

A meningocele is an encephalocele that contains only the meninges and cerebral spinal fluid. These type of defects have a much better prognosis than those where brain tissue also protrudes into the sac.

The most common locations for an encephalocele include the midline of the upper part of the skull, the area between the forehead and the nose or the back of the skull. The encephaloceles at the back of the skull are more likely to be associated with neurologic problems. Occasionally, an encephalocele may go undetected because of its size and location, but typically it is an obvious malformation.

Encephaloceles are frequently associated with other cranial (head, skull, or brain) and/or facial abnormalities. In the United States, encephaloceles occur in approximately 1-4 per 10,000 live births. The presence of an encephalocele is associated with an increased incidence of death in utero. It is estimated that only half survive to birth. It is seen more commonly in females than males. We do not know the cause of an encephalocele but we do know it is not due to anything the mother did or did not do during pregnancy.

Prenatal Diagnosis of an encephalocele:

Most encephaloceles are diagnosed on routine ultrasound. The alpha-fetoprotein levels are not typically elevated with this defect because the defect is covered by skin. Once an encephalocele is diagnosed, a thorough examination of the baby is recommended to look for other anomalies. Recently, some research suggests the fetal MRI may give a more detailed picture of the central nervous system. Ultrasound imaging can be limited by the mother's body habitus, the surrounding amniotic fluid, and the position of the fetus. MRI is a non-invasive diagnostic test that produces better images of soft tissue, and bone or dense tissue does not interfere with the image as it can with ultrasound. The best assessment is done when the fetus is still, which is the challenge of fetal MRI. Your obstetrician will most likely refer you to a specialist that handles high-risk pregnancies. These doctors are called perinatologists.

How does an encephalocele affect my baby?
The prognosis for an encephalocele depends on the size of the defects and the amount of brain tissue that has herniated out into the sac, the location of the defect and the presence of other birth defects or anomalies. Encephaloceles may be associated with brain malformations that can have an effect on the prognosis.

The location of the encephalocele greatly impacts the prognosis. Those located in the front, have a 100 percent survival rate, while those located in the back have a 55 percent survival rate. In the United States the most common type of encephalocele is in the back, while in Southeast Asia a frontal type is more common. Approximately 13 to 44 percent of these babies have a chromosomal abnormality and approximately 75 percent of babies who survive will have some degree of mental deficit.

The most commonly associated abnormalities and symptoms of survivors include: hydrocephalus (abnormal accumulation of fluid in the brain), spastic quadriplegia (paralysis of the arms and legs), microcephaly (smaller than average head size), ataxia (uncoordinated voluntary movements), developmental delays, vision problems, growth retardation and seizures. It is recommended that these babies be delivered at a tertiary care center (a hospital that is capable of caring for critically ill infants) to facilitate coordination of services for the newborn.

How does an encephalocele affect my pregnancy?

A thorough search for associated anomalies should be done with a targeted ultrasound performed by a perinatologist. Accurate diagnosis of the defect is essential to provide appropriate prognosis and genetic counseling. An MRI may also be recommended to get a more accurate and detailed picture of the defect and any associated anomalies.

Because of the risk of chromosomal abnormalities, an amniocentesis will be offered.

With an isolated encephalocele there is no increased risk for future pregnancies to be affected in the same way. However, if the encephalocele is part of a syndrome, this may not be true. A syndrome would have associated anomalies along with the encephalocele. A genetic consultation is recommended for any family with a baby affected with an encephalocele.

If the encephalocele is large, the baby's head may be too big to fit through the birth canal and a Caesarean section may be required to deliver the baby. However, minimizing maternal risk is most important when the encephalocele is large and there are associated anomalies because of the poor prognosis for the baby.

Fetuses with an encephalocele are very likely to die before birth. Approximately 21 percent, or one in five, are born alive. Of those born alive, only half will survive. Fetuses with an front-type encephalocele are much more likely to survive than those with an encephalocele on the back of the head. The absence of brain tissue within the sac is the single most favorable prognostic indicator. Presence of associated malformations is another indicator of prognosis.

Once an accurate diagnosis of the defect and any associated anomalies has been made, you will be counseled regarding your baby's probable outcome or prognosis. If the prognosis is poor but your desire is to continue the pregnancy, palliative care may be offered as an option of care for your baby when he or she is born.

How is an encephalocele treated?

Surgery will be needed to place the protruding tissues, brain and cerebral spinal fluid back into the skull and close the opening. The baby is normally given at least a few days and up to a few months to adjust to life outside the womb before surgery is attempted. Most surgical repairs are done between birth to 4 months of age. The timing of the surgery depends on the size, location, associated anomalies and whether the defect is skin covered. Surgery must be performed more quickly if there is no skin covering over the defect or if there is hemorrhage, airway obstruction or impairment of vision. When surgical correction is not urgent, the baby is evaluated for other problems before surgery.

Sometimes, if the defect is large and/or other anomalies are found, the recommendation for treatment may be to provide palliative care for the baby. This means we support the baby with food, comfort and oxygen as needed, but no surgical procedures are done and the baby's life is not extended with any type of life support machinery. These babies can even go home with hospice support if that is desired. We will have open discussions about your desires for your baby and family to help guide your decisions for treatment.

What about after surgery?

After surgery, recovery will vary depending on the age of the baby, how extensive of a repair was required and surgical time. Your baby will likely need assistance with breathing for a time. An endotracheal tube is passed between the two vocal cords and into the trachea or windpipe. This tube is attached to a ventilator, which can deliver oxygen and help the baby's lungs to inflate.

He or she also will have IV lines. If the baby is a newborn, these lines may be placed in the umbilical cord. The umbilical cord normally has two arteries and one vein. The arterial line provides access for blood to be drawn for lab work rather than having to do a needle stick. The blood pressure can also be monitored via an arterial line. Fluids and medication can be administered through this line as well.

The vein in the umbilical cord will also be threaded with a thin flexible catheter or tubing. Through this line we can give nourishment in the form of an IV solutions called TPN, or total parenteral nutrition, if the baby is not able to eat. Two types of solutions are given. One contains all the calories, vitamins and minerals necessary for normal daily intake. This is a yellow solution. Another type of nourishment provided through this line is fats. This solution appears white and milky.

The baby also may have a peripheral IV. These lines can be in the arms, hands, feet, or scalp.

Each procedure will be explained to you as it is done unless it is an emergency situation.

Will I be able to help care for my baby after surgery?

Yes. Please ask your baby's nurse about ways to interact with and care for your baby. If you had planned to breastfeed your baby, you can begin to pump and freeze your breast milk while you are still in the hospital. A lactation consultant can assist in answering your questions. Your milk will be frozen and stored in the Neonatal Intensive Care Unit until your baby is ready for it. The NICU has breast pumps and private rooms available to you when you are visiting. You can bring in pictures, small toys, booties and blankets for your baby while he or she is in the NICU.

When can my baby go home?

Your baby will go home when he or she has recovered from surgery and is able to take in enough food to maintain and gain weight. The baby's respiratory status or breathing also must be stable. If it is necessary to send your baby home with equipment, you will be trained on how to care for the baby and the equipment, as well as emergency procedures. These babies often require follow-up with a variety of specialists once they go home.

If you have decided against aggressive therapy, the baby can go home with you with support from a hospice service.

What is my baby's long-term prognosis?

Babies with a frontal encephalocele, no associated syndrome or defects and no brain tissue herniating into the sac have a good chance of survival.

Babies with an encephalocele at the back of the head have a 55 percent survival rate. Long-term prognosis for survival becomes less likely if there are other complications, such as associated defects, syndromes or if brain tissue protrudes into the sac. Approximately 75 percent of these infants who do survive have varying degrees of mental deficit

29 comments:

Holly said...

Thank you for all this information on encephaloceles.

Anonymous said...

Thank you for this site. Today my partner and I found out that our little baby has encephaloceles. We are both very upset and it is very hard for us both knowing that it is likely that our baby will not survive or if baby does that there are likely to be all sorts of issues. We live in the Cook Islands and have to fly to Auckland, New Zealand to see a specialist where we will find out more. It is so hard when I can feel baby's heartbeat and feel baby moving inside my partner knowing that baby will likely never see the light of day. I'm trying to be strong but we are both going through so much pain. Our poor little baby...

Anonymous said...

Thanks for posting your story. My daughter-in-law is 5 months and just found out yesterday that her baby girl has this. We are all in total shock and confusion. Also has Omphalocele and heart problems. Waiting on a chromosome test but will take 10 days. Will be a long 10 days. Sami was a beautiful baby.

Anonymous said...

This past week was the most difficult week I have ever experienced. My husband and I too were given the news that our 14 week old fetus had encephalocele and multiple birth defects. The Perintologist said our baby was not viable and would not survive. It all happened too fast. We ended our baby's life this past week before any complications would arise that would put my life at risk, since the encephalocele was so large.
I am devastated and traumatized. Last week I had a baby, and now I am an empty shell of what was.
I am happy to have found your site because this birth defect is so rare, it was difficlut to find others that have experienced this diagnosis for their babies.
I don't know if I made the right decision, but I have to learn to live with it now. My pain is filled with guilt, anger and confusion.
My heart goes out to all mother's and father's of these children and I pray that each child's soul is given another chance at life if the encephalocele had prevented life from continuing.
Thank You for your beautiful blog.

layton18 said...

Hi i was born with encephalocele on the back of my head 39 years ago, and apart from having an etremely large scar where my hair doesn't grow and have regular brain scans i have never been ill my operation was a success, i live a normal life and have even had 3 children, i was recently told that if it had been slightly larger i wouldn't of had life so please don't give up on hope, i'm proof that lives can be saved.

Lisette said...

Layton18, not sure how to respond to you any other way. I hope you are reading this. That is awesome that you have been able live with encephalocele, that is so uncommon. When my daughter was born on 10/26/2009, we realized the doctors were wrong. Sami was supposed to be a twin. She was connected with her twin (Faith). We believe that was what probably caused the other defects since they never split correctly.
May the Lord above continue to bless you.

layton18 said...

Thankyou for your message, the situation you found yourself in last year must of been so heart wrenching life can be so cruel, I have always been told that i was born with hydrocephalus, It was only two weeks ago i actually found out from my neurosurgeon that it was actually encephalocele, i've had to ask family members about how i looked at birth and how they felt when they saw me as i looked very different from any other newborn, unfortunately my mother died over three years ago so i couldn't get info off her, I only found these blogs due to trying to find out if i have a short life span as i've been having bad aches and pains in my scar and neck and spine i'm due to have MRI scans on may the 30th and another brain scan to keep an eye on my swollen pictuity gland,so because i was born 39 years ago with encephalocele not alot was known back then about this birth defect i cannot seem to find information on other associated problems with this defect in later life, I feel blessed to be still here but very scared that the pain i feel is related to my encephalocele, I do really feel for all the parents and children that are having to deal with this defect, and i do hope that these babies have the same chance at life like i have.

Lisette said...

Layton, I think it is amazing that you are alive and doing so well. You can email me directly at lisarry99@yahoo.com
I would love to hear from you, especially after your scans.

Jenny said...

Thank so much for your inspiring website and the stories. Reading the comments makes one not feel alone. We found out a month ago that our 7 year old son has a Encephlacele (frontal) which was extremely rare as there is no obvious signs of it when you look at his face. They picked it up co incidently on a CT scan after he had a fall and doctors were checking for a broken nose. They are due to operate on him in the next month. We are praying for a miracle...

Lisette said...

Jenny, oh my goodness I am sorry to hear about your son. I will pray that everything goes well and that he recovers quickly. Do you have a blog? Please keep me posted.

Jenny said...

No blog at this stage. But I was thinking of doing one post operation. Also one that gives people support with special needs children and dealing with it.

Lisette said...

Jenny, if you need to talk you can email me at lisarry99@yahoo.com I will be praying for you and your family, ((HUGS)).

Jessica said...

I just found out our baby boy has this , I am 20 weeks pregnant. It was hard to take in, but i believe in miracles and I know ANYTHING is possible. I have asked alot of people (who beleive as well), GOD, Angels, Guides of Light to assist in this healing before the baby's born. I am NOT giving up on him. He is perfectly healthy otherwise. ALL of his major organs, anatomy look perfect. I beleive he chose this to overcome it. And he WILL survive, and be very smart, i feel it in my heart.
I am glad i found this website. I send my LOVE to you ALL. Please pray for my baby boy to pull through this! In my deepest sincerity and gratitude. Jessica email: mind4twisting2art0@gmail.com
or yahoo.com

Beth said...

hi, got told last week that my baby has Encephlacele in the back of her head close to her neck, didn't get told much from the doctor or the widwife they just sent us off to do are own research. Read so many different storys and really don't know what to think im not ready to give up on her. I think more should be done for this condition because i had never even heard of it before.

Rajanikanth said...

Hi Beth,

Sorry to hear your story, we are also in the same situation, we just got to know yesterday that our baby is having this. what did you do ? can you please write me @ rajanikanth.r@gmail.com. I don't know what to do, we are alone here in US and all my family in India.

Thanks & Regards,
Rajanikanth R

morris_girl3 said...

Our Children’s Incredible Journey

I am sharing this with all of you in ultimate hopes that we can save other children and wish that all of you find it as inspiring as we have.

On February 1, 2010 my husband and I found out we were expecting our first child. On March first (8 weeks pregnant) we found out we were expecting twins and at 16 weeks pregnant during a routine sonogram we found out that we were having a boy and a girl and our son had an occipital encephalocele. We were told that our son would probably not make it through utero and if he did he would only live to be a few hours to a few days old. We were told that if he made it he would not be able to breathe on his own, eat on his own, or see. Our doctors told us that we should selectively terminate our son. Well, selective termination was not an option. We saw 9 different doctors prior to our son’s arrival all with the same diagnosis. On September 23rd 2010 at 9:44 pm our son was born weighing in at 5lbs 12oz and 17 ½ inches long. His sister was born at 9:45pm weighing in at 5lbs 6oz and 15 ½ inches long. He came out breathing, ready to eat, and he could see… a true miracle! Three days after his birth he had brain surgery to repair the encephalocele and at 2 weeks old he had a second operation due to hydrocephalus. My son is perfectly healthy. He eats, sees, and cries; everything a newborn should. God is still performing miracles today! They are not sure what causes an encephalocele. It only affects 1 out of 5000 children and unfortunately 80-90 % of women terminate the pregnancy. We have already met with many different physicians, nurses, nursing students that had never seen a child with an encephalocele and are taught that the family should terminate the pregnancy. We are trying to spread the word to keep your baby. Our son is living, breathing, seeing proof! My son was in the NICU for a week after he was born and when we got to bring him home on September 30th we were elated!!! We scrambled to get a car seat as we were told not to bring one to the hospital because we would not be going home with our son. He is home, happy and healthy! He is so tough and such a fighter! Praise God! We knew throughout our entire pregnancy that God had a great plan for our son. Our son has an amazing story to tell and we will help get his testimony out there to try and save other children!

patricia said...

hi there,my name is patricia and my son had the same thing. thank you for this site it helps to know that other child can servive my son did not and was two months prem. i live in new zealand and not many people have had this here as it is a small country. i did not have a termination as it would effect me in the future. it was nine years ago in two weeks so i thank you from the bottom of my heart that you are getting the word out. you rock.

nicole said...

Hi my name is Nicole, I'm living in Aukland, and I am 33 weeks pregnant, my husband and I were also given the news of our daughter at 18 weeks. We were told our only option was to terminate, but I felt that was no option and I could not live with the guilt hanging over my head. When i felt my baby move and heard her heart beat I knew she was a fighter and that there was hope for her, due to me refusing the termination has caused a wedge in my marriage but feel that our baby should be given a chance to live. Our baby girl is due 28 December 2010 and I know that God is a healer and that through him all is possible. So I am thankful for stumbling over this blog and inspired by all the stories and grateful that I am not alone, so for the other mothers out there going through this do not be discouraged and give up as there is always hope. I'ts time to fight for the ones without a voice and continue to spread the word. So thank you once again you truelly are awesome and God sent.

Tina said...

Everyone please have hope and failth. I too, like many of you, found out that my first born had an encephalocele when I was 5 months pregnant. We too were told to terminate my pregancy. We did not. Regardless of the outcome, I still wanted to hold her and see her. Madalyn was born on December 31, 1999. She weighed 5 lbs and 11 ounces. She was beautiful. We did nothing out of the ordinary for her except love and pray for her. Her expected few minutes of life got longer and longer. Minutes were turning into hours. The doctors decided we needed to do something. Madalyn had surgery on her second day of life and came home from the hospital after 7 days. Madalyn's encephalocele was at the base of her skull in the back. Hers did contain brain matter and when it was removed her entire cerebellum was removed also. We were taking home a beautiful baby and that is all that mattered. Madalyn had a slow start in life. She was extremely far behind in her mile stones. However, I am EXTREMELY happy to say that Madalyn is almost 11 years old and is starting to walk on her own. Pretty good for a little girl with no cerebellum. She is very intelligent and to look at her you would never know she has any issues. She is in a multiple handicapped class at school but does very well in life. I will say that I believe alot of prayers and her own determination has gotten her this far. Please don't give up hope!!!!! I didn't. If any one would like to see pictures or just chat, please contact TKW1995@aol.com

sierra said...

Hi my name is Sierra Im 24 yrs old I live North Carolina and at 13 wks pregnant my docter told me my baby has the same condition "encephalocele". When I first heard about it all I could do was cry and ask God why me? What did I do so wrong that I would even be in this situation. My docters gave me the option of termination, or waiting to get further along and to see more of my babies condition. Well I am 17wks as of today I go for a MRI on the baby once I turn 18 weeks. I have been praying as well asking for others to pray for me and my baby. I have to trust God in the postion he put me in. This happen to me and others for a reason no matter what the outcome may be I cant give up! I trust that GOd will bring me through this. I dont plain on giving up I have come to far the sound of my babies heart beat lets me kno that he or she will be a fighter. I havent found out the sex of the baby yet I will next week but it doesnt even matter I just want my baby to have the best quality of life. Im so thankful for this site I thought I was so alone. Im thankful for everybody sharing their experience I plan to share my miracle baby with you all as well. If anybody has any form of advice for me my direct email is (sierra.mclean@bankofamerica.com) or (noteasilybroken1986@gmail.com)

Halee said...

My husband and I also found out at 20 weeks that our son has an encephalocele. We were also encouraged to terminate but chose not to. He has no other anamolies and no syndromes and is perfectly healthy other than the encephalocele. He is also very active and I LOVE to feel him kick. At 20 weeks, his encephalocele was measuring 2 cm. It is located near the top of his head but it still considered occipital. We go back on Dec 23rd 2010 for another scan. He is due on March 24th 2011. I would love to talk with anyone who has experience with this! My email is halee.whitesides@gmail.com and our blog is at www.caringbridge.org/visit/babycooper

morris_girl3 said...

I posted on Oct 21, 2010 regarding my son Newt. I did not realize that you could not contact us if you needed or wanted to. My email address is morris_girl3@hotmail.com. My Name is Lindsey.

Tyler, Caeli & Hope said...

My family also has a member with encephalocele. Our first child, Hope, was diagnosed at our 20 week ultrasound. They told us she would probably not survive to term and if she did, she would not survive birth. She did both and lived for 37 magnificent days. I started a blog to commemorate her life (caeliocea.blogspot.com). Her 1 year birthday is this Sunday, 23 Sep. If your child did not survive, there is still hope.

AmyD said...

Hi - like all of you, my life has been touched and forever changed by a baby with encephalocele. My daughter Gianna was born with an occipital encephalocele on September 23, 2012 - I started a blog when she was diagnosed at 20 weeks (giannamaried.blogspot.com)
We have been incredibly blessed by her progress beyond our wildest dreams.
My heart goes out to all who have contributed your comments and stories.

Sharonkim said...

Thank you everyone for sharing your story. I just got the news at 14 weeks along the baby has encephalocele, I am devastated. I have 2 beautiful amazing healthy kids. I had on pregnancy and the baby was anencephalic and now this pregnancy with encephalocele. I don't understand why I am at high risk for NTD. I was found to have MTHFR gene mutation took extra folic acid mega doses and this still happened. Anyone else tested for the gene mutation?

Jackie Simmons said...

My name is Jackie and I am 14 weeks and my baby have the some want should I do I want to have it but at the same time I do not want to go though that again back I 2011 my son pass because he was born at 22 weeks and I do not thank and can take that again so want should I do can someone please tell me

Amber Cooper said...

Here are two Miracle babies to share. My is included. Have FAITH>>
http://fivemonkeysmama.blogspot.com/
https://www.facebook.com/PrayersForJaceMichaelCooper?ref=bookmarks

Muse Mama said...

I'm another mother of a happy three year old, born with an encephalocele. I hope anyone who finds this, will also search out Facebook groups for support. There are two, one general group, and one private group specifically for parents. It's a terrifying diagnosis, and it helps to have people to talk to.

Sami is absolutely beautiful. Thank you for sharing her with us.

Unknown said...

hi my name is sabel from philippines. my son is 3 yrs old and also having an encephalocele case. we pray that he undergo the operation, he have 2 case of ctscan last week. 1 is cranial and 2 is face cut ctscan. we pray that he undergo the operation after the reading of her ctscan next week. i will comment again on this site after her operation. please pray my son.

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