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
Hi Claudia,
ResponderEliminarI think this is a very interesting article! I want to be to paediatric surgeon if I can, so I liked the article.
I think both hydrocephalus and spina bifida are two rare diseases that we don’t talk about so much, but certainly when you have a child who has this disease this becomes your main concern and the more information you have on this, the better.
One thing I would love to attend is a hydrocephalus surgery. I think it must be very peculiar and fascinating.
As far as I'm concerned, I will have to deal with folic acid during my pregnancy!
Núria Climent
Hi! From my point of view, in spite of the encephalocele be considered a rare disease is important to investigate on ways to prevent it. Larger further studies are required to establish the association between this disease and various factors that can be prevent such as acid folic , the levels of maternal calcium or vitamin D. 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.
ResponderEliminarJoana Gonçalves
It's been useful for me having read this article to refresh my memory about the term 'encephalocele'.
ResponderEliminarDue to the its low prevalence and the fact that surgical treatment can't be curative but palliative, I think the main objective to manage encephalocele is the prevention. All the resources should go to study the phisiopathology (including genetics) in order to understand how and why the alteration happens. Knowing that would allow doctors to act specifically over the cause, preventing the development of the disease. As it's a rare disease, it may be somehow difficult to study, as the cases available are not numerous. However, multicenter research can guarantee enough patients to draw correct conclusions.
After reading this medical case i've realized how important pediatrics disease are.
ResponderEliminarEven more than the one that you have mentioned. I didn't know since know the incidence of encephalocele in UUEE. I think that even it's not a big incidence it's important enough to focus on that disease and research to discover different treatments and also how this encephalocele occurs which could help us to know how to prevent from them.
Mercè
Thanks Claudia for this article.
ResponderEliminarI think it's really important that doctors explain to pregnant women what kind of measures they have to do to prevent these pathologies, which are non common, mainly at the beginning of pregnancy.
The three first months are crucial for foetal development and we must advise women about her diet, which foods they can eat or they should eat and which they shouldn't eat. 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.
It's really important rehabilitation to children with spine bifida after surgery, because physiotherapists teach parents to do an early stimulation. These patients need a multidisciplinary treatment, which consists in medical, psychical and social support. They could become adults if they have treatment since they were babies.
ANDREA GARCÍA
I like the article you chose. I think it is very useful us to read about situations like this, because it is another way of learning.
ResponderEliminarOne of the sections that most interested me was the one about of prevention. As Andrea said, the most important preventive measure 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.
Since the exact cause behind the encephalocele is unknown, it’s very important to attempt to reduce the risk of developing it using these methods of prevention.
Dunia Jové
Thank's for this article, Clàudia! I'm really interested in pedriathics, so in my freetime I usually look for information about children diseases and congenital disorders by my own. Today, I've been lucky to find your report.
ResponderEliminarAs said above, I consider the prevention one of the most important parts in Medicine; specially in those diseases we haven't found their treatment yet. Clàudia has given us an exemple explaining the tight relationship between Encephalocele and Folic Acid (B9). All my partners have also realsized how important it is.
Finally, I'd like to highlight the syntomatology, treatment and prediction of encephalocele depend on its location.
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: neurologic problems, spastic quadriplegia, developmental delay, vision problems, mental or growth retardation...
I'm sure Tyler was blessed.
María Lamana.
Hi Claudia!
ResponderEliminarI found this article pretty interesting since I didn´t remember some facts about this disease. It was useful to refresh my memory. On the other hand, talking about the treatment, surgery might be a good option, eventhough isn´t a curative intention, but at least it will prevent possible complications. Because of this, prevention is the most important thing. For this reason doctors should insist to pregnant women to take enough folic acid or to stop smoking during pregnancy. Also, 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.
Moreover, more research has to be done eventhough is a very strange disease since it might be useful, including: early diagnosis, new treatments; or even, prevent psychological problems for the mother or family, because it has to be too impacting to see your baby with this disease. Finally, if this malformation occurs, support for the mother or family may be a very important tool in order to affront this problem.
Elisa Salazar