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Meningoencephalocele
Other Names: Encephalomeningocele

Summary
Meningoencephalocele is a type of encephalocele
(https://rarediseases.info.nih.gov/diseases/6333/encephalocele), which is an abnormal sac of uid,
brain tissue, and meninges (membranes that cover the brain and spinal cord)that extends through a
defect in the skull. There are two main types of meningoencephalocele, which are named according
to the location of the sac. The frontoethmoidal type is located at the frontal (http://www.merriam-
webster.com/medlineplus/frontal%20bone) and ethmoid (http://www.merriam-
webster.com/medlineplus/ethmoid%20bone) bones while the occipital type is located at the
occipital bone (http://www.merriam-webster.com/medlineplus/occipital%20bone). Hydrocephalus,
abnormalities of the eyeball and tear duct, andother ndings have been associated with the
condition.[1][2]Some affected individuals have intellectual or physical disabilities while others have
normal development and abilities.[3] The condition is typically congenital (present at birth) but has
been reported to develop by chance in older individuals in rare cases.[4] The underlying cause of the
condition is uncertain, but environmental factors are thought to play a role. Treatment depends on
the size, location and severity of the defect butmainly includes magnetic resonance imaging (MRI)
(http://www.nlm.nih.gov/medlineplus/mriscans.html) to determine the severity of the defect,
followed by surgery to repair it.[1][2]
Last updated: 4/27/2016

Cause
The exact cause of meningoencephalocele is not known. Some studies have suggested that
environmental factors could play a role in causing the condition.Exposure during pregnancy to
a atoxins (http://www.cancer.gov/about-cancer/causes-prevention/risk/substances/a atoxins),
toxins produced by a mold that grows in nuts, seeds, and legumes, has been proposed to be a
possible cause in some cases. However, its potential role in causing the condition is unclear. It has
also been suggested that folate de ciency during pregnancy might play a role, because the
condition is so closely related to spina bi da, which can be caused by folate
(https://ods.od.nih.gov/factsheets/Folate-HealthProfessional/) de ciency. However, there have
been no studies regarding the relationship of maternal folate de ciency and meningoencephalocele.
[1] There might additionally be some underlying genetic factors given evidence of familial clustering

and cases of meningoencephalocele identi ed in individuals with an underlying genetic disorder.[5][6]

Further studies are needed to to clarify what may cause the meningoencephalocele.
Last updated: 4/27/2016

Inheritance

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Meningoencephalocele is notthought to bean inherited condition. Studies have proposed that

meningoencephalocele is likely a multifactorial defect. This means that both environmental factors
and multiple genes may interact with each other to cause the condition. Studies have suggested
that environmental factors probably play an important role. This information is supported by the fact
that several studies have not identi ed the condition among close relatives of affected individuals.
To date, there have been no genes identi ed that are likely to play a strong part in causing the
condition.[1]
Last updated: 4/27/2016

Prognosis
Theprognosisfor eachindividual with meningoencephalocele depends on the size and location of
the sac, whether brain tissue is present in the sac, and if other brain abnormalities are also present.
[2] Survival is generally better when brain tissue is not involved in the sac.[7] Individuals with

encephaloceles (http://www.cdc.gov/ncbddd/birthdefects/encephalocele.html) located in the face

(at the frontal and nasal bones (http://www.nlm.nih.gov/medlineplus/ency/imagepages/9057.htm))
tend to have better survival and developmentthan those located at the back of the head (at the
occipital and parietal bones (http://www.nlm.nih.gov/medlineplus/ency/imagepages/9057.htm)).[8]
[7] Several studies have found that approximately two-thirds (66%) of individuals with

meningoencephalocele in the back of the head survive; of those survivors, approximately half have
normal intelligence. Infections, such as meningitis, may develop and could also affect theoutcome.
[7][2]

Last updated: 4/27/2016

Do you have updated information on this condition? Let us know. (/Feedback?diseaseId=3473)

Organizations
Nonpro t support and advocacy groups bring together patients, families, medical professionals, and
researchers. These groups often raise awareness, provide support, and develop patient-centered
information. Many are the driving force behind research for better treatments and possible cures.
They can direct people to research, resources, and services. Many groups also have experts who
serve as medical advisors. Visit their website or contact them to learn about the services they offer.
Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

Ameriface (/organizations/649)
PO Box 751112
Las Vegas, NV 89136
Toll-free: 888-486-1209
Telephone: 702-769-9264

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E-mail: info@ameriface.org (mailto:info@ameriface.org)

Website: http://www.ameriface.org (http://www.ameriface.org)
Children's Craniofacial Association (/organizations/377)
13140 Coit Road Suite 517
Dallas, TX 75240
Toll-free: 800-535-3643
Telephone: 214-570-9099
Fax: 214-570-8811
E-mail: contactCCA@ccakids.com (mailto:contactCCA@ccakids.com)
Website: http://www.ccakids.com/ (http://www.ccakids.com/)
FACES: The National Craniofacial Association (/organizations/322)
PO Box 11082
Chattanooga, TN 37401
Toll-free: 800-332-2373
Telephone: 423-266-1632
E-mail: faces@faces-cranio.org (mailto:faces@faces-cranio.org)
Website: http://www.faces-cranio.org/ (http://www.faces-cranio.org/)

Do you know of an organization? Send us your suggestions. (/Feedback?diseaseId=3473)

Learn More
These resources provide more information about this condition or associated symptoms. The in-
depth resources contain medical and scienti c language that may be hard to understand. You may
want to review these resources with a medical professional.

In-Depth Information
The Monarch Initiative (https://monarchinitiative.org/phenotype/HP:0006888) brings together
data about this condition from humans and other species to help physicians and biomedical
researchers. Monarchs tools are designed to make it easier to compare the signs and symptoms
(phenotypes) of different diseases and discover common features. This initiative is a
collaboration between several academic institutions across the world and is funded by the
National Institutes of Health. Visit the website to explore the biology of this condition.

PubMed (http://www.ncbi.nlm.nih.gov/pubmed?
term=meningoencephalocele%5BTitle%5D%20OR%20encephalomeningocele%5BTitle%5D&cmd=
DetailsSearch) is a searchable database of medical literature and lists journal articles that
discuss Meningoencephalocele. Click on the link to view a sample search on this topic.

GARD Answers

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Questions sent to GARD may be posted here if the information could be helpful to others. We
remove all identifying information when posting a question to protect your privacy. If you do not
want your question posted, please let us know. Submit a new question (/about-gard/contact-gard)
My newborn daughter has been diagnosed with a meningoencephalocele in the back of her head.
Can she survive with this condition? How long can she survive? See answer
(/diseases/3473/meningoencephalocele/cases/47375)
What causes an infant to be born with this condition? My 9 month old baby boy had surgery to
repair this after months of us being told he had allergies, although it was clear he had
anobstruction in his nasal cavity and he was not able to breath well since birth. Also, is this a
hereditary condition? How many infants are diagnosed with this? What are the long term affects
even after repair? See answer (/diseases/3473/meningoencephalocele/cases/32287)

Have a question? Contact a GARD Information Specialist. (/about-gard/contact-gard)

References
1. Sitthiporn Agthong and Viroj Wiwanitkit. Encephalomeningocele cases over 10 years in
Thailand: a case series. BMC Neurology. 2002;
2:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC113760/
(http://www.ncbi.nlm.nih.gov/pmc/articles/PMC113760/).
2. Kiymaz N, Yilmaz N, Demir I, Keskin S. Prognostic Factors in Patients with Occipital
Encephalocele. Pediatric neurosurgery 2010. 2010; 46(1):6-11.
http://www.ncbi.nlm.nih.gov/pubmed/20453557
(http://www.ncbi.nlm.nih.gov/pubmed/20453557).
3. Meling TR, Due-Tnnessen BJ, Helseth E, Skjelbred P, Arctander K. [Frontoethmoidal
meningoencephaloceles]. Tidsskr Nor Laegeforen. August 20, 2000; 120(19):2250-2252.
http://www.ncbi.nlm.nih.gov/pubmed/10997082
(http://www.ncbi.nlm.nih.gov/pubmed/10997082).
4. Nahas Z. Spontaneous meningoencephalocele of the temporal bone: clinical spectrum and
presentation. Arch Otolaryngol Head Neck Surg. May 1, 2008; 134(5):509-518.
http://www.ncbi.nlm.nih.gov/pubmed/18490573
(http://www.ncbi.nlm.nih.gov/pubmed/18490573).
5. Meloni VA, Moyss-Oliveira M, Melo MC, Caneloi TP, Dantas AG, Soares MF, Fock R, Rodrigues
de Nicola PD, Dias-da-Silva MR, Melaragno MI. Novel homozygous ALX4 mutation causing
frontonasal dysplasia-2 in a patient with meningoencephalocele. ClinGen. May 11 2015;
88(6):593-6. http://www.ncbi.nlm.nih.gov/pubmed/25963140
(http://www.ncbi.nlm.nih.gov/pubmed/25963140).
6. Suphapeetiporn K1, Mahatumarat C, Rojvachiranonda N, Taecholarn C, Siriwan P, Srivuthana S,
Shotelersuk V. Risk factors associated with the occurrence of frontoethmoidal
encephalomeningocele. European Journal of Medical Genetics. Mar 12 2008; 12(2):102-7.
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