ENCEPHALOCELE

Brief Overview:
Encephalocele is a condition where brain tissue goes through an opening in a newborn’s skull and happens when the top of the neural tube doesn’t close completely. This can be mild to life-threatening, generally treatable through surgery. (Cleveland Clinic. (n.d.). Encephalocele). It’s estimated that about 1/10,040 babies are born with Encephalocele. (Centers for Disease Control and Prevention. (2022, December 21). Encephalocele.)
 
Surgery isn’t an emergency, except for those with skin ulceration and CSF leaks. It can be performed as early as 2 months but is generally delayed to 4 months to several years of age, due to the small volume of total blood in infants. (Kumar, E., & Ghosh, D. (2021). Encephalocele. In J. B. Anderson (Ed.))

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Image Courtesy: Khosravi, Mohammad Hossein & Najafian, Bita. (2021). Common Congenital Neural Tube Anomalies: Epidemiology, Classification, Management and Outcome.

Recognition and Diagnosis:
Encephalocele is characterized by a visible skin-covered mass near the midline in the head's anterior or posterior area. The anterior encephalocele is usually related to the nasal bridge, glabella, or medial orbit. In the posterior area, it can be above or below the torcula. The sac can be mostly filled with CSF and can be translucent. (Kumar, E., & Ghosh, D. (2021). Encephalocele. In J. B. Anderson (Ed.))

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Image courtesy: Cleveland Clinic

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According to the CDC, here are the symptoms related to Encephalocele, although they can vary with the size and location of the opening, as well as the amount of tissue outside the skull:

• Visual problems.
• Muscle weakness in arms and legs.
• A smaller-than-expected head size at birth.
• Uncoordinated movements (ataxia).
• Facial malformations.
• Nasal obstruction.
• Spinal fluid leaking from nose or ear.

Encephalocele can be diagnosed during a routine ultrasound during pregnancy and further investigated through an MRI. Diagnosis can be verified after a visual examination after birth. (Centers for Disease Control and Prevention. (2022, December 21). Encephalocele.)

Is Encephalocele harmful?
Not all cases are harmful, with some having few to no complications. Long-term complications include developmental delay, intellectual disability, vision issues, and developmental delay. (Cleveland Clinic. (n.d.). Encephalocele Symptoms and Causes)

How is Encephalocele caused?
Unfortunately, the cause of this disease isn’t known yet. A study suggests that exposure to toxic chemicals (found in certain medicines) might increase the risk, with some proof. Another one has found connections between medical problems in the mother (such as diabetes) and encephalocele. (Nationwide Children’s Hospital. (n.d.). Encephalocele.) Other causes may include genetic change, neurological condition, an infection (like rubella or herpes simplex virus) 

How can we prevent Encephalocele?
Encephalocele can be prevented through plenty of folic acid intake through pregnancy. Folic acid is found in leafy green vegetables, nuts, beans, citrus fruits, and fortified breakfast cereals. You can also get folic acid in prenatal vitamins. (Nationwide Children’s Hospital. (n.d.). Encephalocele.)




References:

1. Cleveland Clinic. (n.d.). Encephalocele. Retrieved December 28, 2024, from https://my.clevelandclinic.org/health/diseases/encephalocele
2. Nationwide Children's Hospital. (n.d.). Encephalocele. Retrieved December 28, 2024, from https://www.nationwidechildrens.org/conditions/encephalocele#:~:text=Most%20encephaloceles%20happen%20when%20the,that%20pokes%20through%20the%20skull.
3. Bittencourt, G. T., & Nascimento, J. R. (Eds.). (2020). Encephalocele. In StatPearls. StatPearls Publishing. Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK562168/
4. Centres for Disease Control and Prevention. (2021). Encephalocele. Retrieved December 28, 2024, from https://www.cdc.gov/birth-defects/about/encephalocele.html
5. National Organization for Rare Disorders. (n.d.). Encephalocele. Retrieved December 28, 2024, from https://rarediseases.org/rare-diseases/encephalocele/

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