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Disease Profile

Meningoencephalocele

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

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ICD-10

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Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Encephalomeningocele

Summary

Meningoencephalocele is a type of encephalocele, which is an abnormal sac of fluid, 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 and ethmoid bones while the occipital type is located at the occipital bone. Hydrocephalus, abnormalities of the eyeball and tear duct, and other findings 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 but mainly includes magnetic resonance imaging (MRI) to determine the severity of the defect, followed by surgery to repair it.[1][2]

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 aflatoxins, 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 deficiency during pregnancy might play a role, because the condition is so closely related to spina bifida, which can be caused by folate deficiency. However, there have been no studies regarding the relationship of maternal folate deficiency and meningoencephalocele.[1] There might additionally be some underlying genetic factors given evidence of familial clustering and cases of meningoencephalocele identified in individuals with an underlying genetic disorder.[5][6] Further studies are needed to to clarify what may cause the meningoencephalocele.

Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s 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

    Learn more

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

    In-Depth Information

    • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s 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 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.

      References

      1. Sitthiporn Agthong and Viroj Wiwanitkit. Encephalomeningocele cases over 10 years in Thailand: a case series. BMC Neurology. 2002; 2:https://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. https://www.ncbi.nlm.nih.gov/pubmed/20453557.
      3. Meling TR, Due-Tønnessen BJ, Helseth E, Skjelbred P, Arctander K. [Frontoethmoidal meningoencephaloceles]. Tidsskr Nor Laegeforen. August 20, 2000; 120(19):2250-2252. https://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. https://www.ncbi.nlm.nih.gov/pubmed/18490573.
      5. Meloni VA, Moysés-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. https://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. https://www.ncbi.nlm.nih.gov/pubmed/17869141.
      7. Mealey J, Dzenitis AJ, Hockey AA. The prognosis of encephaloceles. Journal of Neurosurgery. 1970; 32(2):209-218. https://www.ncbi.nlm.nih.gov/pubmed/5411997.
      8. Hoving EW. Nasal encephaloceles. Childs Nerv Syst. November 2000; 16(10-11):702-706. https://www.ncbi.nlm.nih.gov/pubmed/11151720.

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