MEDICAL CASE ABOUT AN ENCEPHALOCELE
Claudia Bosch Ruiz
INTRODUCTION
Good Afternoon, my name is Claudia Bosch Ruiz.
Being a member of this blog is such an honor because I think it is a great experience and a great oportunity to increase our knowledge about Medicine which we all love.
I chose this article because when I read it I found it very interesting and I didn't know much about it so I decided to put it here so we could all learn a bit more about this rare malformation.
I hope you enjoy reading it a lot and I can't wait to read your comments.
Baby Tyler was born with an encephalocele.
While a facial cleft is an actual malformation or opening in the face,
an encephalocele is a type of neural tube defect, which is a birth
defect of the brain, spine, or spinal cord. The neural tube is the
channel that closes during the first trimester of pregnancy to
eventually form the brain and spinal cord. An encephalocele, which
occurs when the neural tube does not completely close, can be described
as a sac-like protrusion of the brain and its membranes through an
opening in the skull. This opening may be located in the back of the
skull, the midline of the upper part of the skull, or the area between
the forehead and nose (such as in Tyler's case).
According to
the Centers for Disease Control and Prevention, encephaloceles are
considered rare – approximately 375 babies are born with this type of
defect each year in the United States.
Currently, surgery is the only treatment for an encephalocele.
Neural tube defects do not have cures, but a variety of procedures can
be helpful in preventing further injury as well as decreasing
complications. The surgeons' primary
goals consist of removing any non-viable tissue from outside of the
brain, closing any skin defects, and reconstructing the area to prevent
long-term deformity. The specific technique used obviously depends on
the surgeon and characteristics of the defect, but larger protrusions,
such as Tyler's, can typically be removed without causing more
complications and only leave a scar. Additionally, when the sac contains
only cerebrospinal fluid rather than actual brain tissue, the risk for
complications is also greatly decreased.
If Tyler had not received surgery, what types of complications could he have experienced?
The severity of the complications actually depends on the location of
the defect. And fortunately, Tyler's encephalocele was not located at
the back of his skull because those particular defects can be associated
with several neurological problems, including:
• Hydrocephalus, or buildup of fluid in the brain.
• Developmental delays.
• A smaller-sized head.
• Loss of strength in the limbs.
• Vision problems.
• Seizures.
• Difficulty with muscle movement.
Can encephaloceles be prevented at all?
Similar to other neural tube defects, the exact cause of encephaloceles
is still unknown, therefore we still do not have concrete methods of
prevention. However, researchers have advocated steps that can be taken
for the pregnant mother to reduce her risk, such as adding folic acid to
their diet as well as abstaining from smoking and alcohol during
pregnancy.
Scientists also believe that a genetic component may
be involved with the development of encephaloceles, but more research
still needs to be completed.
CONCLUSION
First of all I would like to thank all of you for commenting the article and letting me know that you enjoyed a lot! It is a great honor.
I find each of your comments really interesting so I will give my personal opinion to all of you.
First Nuria Climent I find fascinating that you want to become a Pediatric surgeon, I think it is a very important specialty and also very unknown but this medical case shows us how important really is and how specific the surgeries are and also how well trained the surgeons need to be, when I was looking for information about this disease I found that this kind of surgery lasts 10 hours and the surgeons don't stop any moment during all this time.
I also agree with Joana when you say that: "It is very important to know more about the etiopathogenesis of this
disease because it can help to prevent visuals defects, psychomotor
developmental delay and motor deficits." Yes I couldn't agree more with you about the importance of reserching about this rare disease to prevent all this deffects and try to improve the baby's life.
Nisha, I am very happy to refresh your memory about encephaloceles and as you said one of the most important things is prevention and also that all the resources should go to study the phisiopathology (including
genetics) in order to understand how and why the alteration happens.
Merce like you said I didn't know neither the prevalence of this rare disease aproximately 375 babies are born with this type of
defect each year in the United States, it may seem a low number but each of them mean the world to their parents and to their doctors.
Andrea I find your comment very useful because you give us a lot of information that I didn't know such us that the three first months are crucial for foetal development They should know the importance about vitamin B, acid folic, to prevent defects on closing neural tube and we should prescribe it and if a woman wants to be pregnant it will be interesting that she starts to take it a month before being pregnant. This information is very useful and I don't know if all doctors are aware of this I hope so because with such a little knowledge about prevention mums could prevent a lot of congenital abnormalities so thank you a lot for this information.
Dunia you remarked the importance about the prevention which is that pregnant women must
incorporate vitamin B and folic acid in their diet, and give up
unhealthy habits such as smoking or drinking alcohol. We as a women should take this advice very serious.
Maria I am happy that you enjoyed this article and let us know about your findings about congenital disorders we will be thrilled to hear about them! And thanks for letting us know that the nasofrontal encephalocele type isn't the most common in North
American and Europe, instead of nasoethmoidal or nasoorbital types.
However, his encephalocele has the best prognosis and doesn't include so
much severe morbidity. I didn't know this information so we all really appreciate it!
Elisa I am glad I refresh your memory and I find something that you said very remarkable that education must be given for pregnant women in order to teach them how
important is a proper nutrition and care; and possible complications if
no. That made me think that we as a doctors should take our profession very serious and let our patients know the importance about taking care of themselves during pregnancy.
To sum up I would like to highlight the importance of research and prevention of rare congenital disorders like this and also our compromise as doctors to support this families.
If you want some more information and a video about a medical case check this webpage:
http://www.childrenshospital.org/conditions-and-treatments/conditions/encephaloceles
Thank you very much to all of you,
See you tomorrow in English class.
Claudia Bosch Ruiz
