Occipital Encephalocele: Cause, Incidence, Neuroimaging and Surgical Management



Aims: To review and present the current knowledge of incidence, signs and symptoms, diagnosis and treatment of the occipital encephalocele.

Background: Encephalocele (E) is a defect of the neural tube that refers to congenital malformations featured by skull defect and dura with extracranial spread of intracranial structures. Occipital encephalocele (OE) are the most common form of this congenital disorder and are manifested as a swelling of different sizes over the occipital bone in the midline. Proper diagnosis and treatment is highly important in the management of this congenital malformation of brain.

Objective: To review and present the current knowledge of incidence, signs and symptoms, diagnosis and treatment of the occipital encephalocele.

Methods: We conducted a search of case reports or case-series of patients by the use of electronic databases: Pub Med, Medline, Index Medicus, Scorpus. The key words were: encephalocele, occipital encephalocele, neural tube defect, congenital malformation. The search was updated to December 31, 2018. Papers published in English were the only source of information.

Results: Occipital encephalocelle are more frequent in females than in males. The incidence is between 1 in 3000 to 1 in 10,000 live births; approximately 90% of them involve the midline. Magnetic resonance imaging is the method of choice in diagnosis and surgery is the best option for the treatment of OE. Overall morbidity and mortality is still high in spite of advenced surgical management, but have been significantly improved in recent years thanks to sophisticated highresolution imaging, adequate and proper surgical treatment and decent post-operative care.

Conclusion: Occipital encephalocele is the most common form of encephalocele. The diagnosis is mostly based by the use of neuroimaging techniques. Operation is the best option for treatment. Overall morbidity and mortality is still high, but have been significantly improved in recent years thanks to sophisticated high-resolution imaging, adequate and proper surgical treatment and decent post-operative care.

Keywords: Occipital encephalocele; cause; cerebrospinal fluid; incidence; neuroimaging; neuroimaging techniques.

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    1. Ugras M., Kavak O., Alpay F., Karabekir S.H., Bicer S. New Born Children with Encephalocele Journal of Neurology and Neuroscience. 2016;7(73):1–4.
    1. Franco A., Jo S.Y., Mehta A.S., Pandya D.J., Yang C.W. A Rare Triad of Giant Occipital Encephalocele with Lipomyelomeningocele, Tetralogy of Fallot, and Situs Inversus. J. Radiol. Case Rep. 2016;10(3):36–46. doi: 10.3941/jrcr.v10i3.2718. - DOI - PMC - PubMed
    1. NORD https://rarediseases.org/rare-diseases/encephalocele/
    1. Verma S.K., Satyarthee G.D., Singh P.K. Pediatr. Neurosci. 2013;8(3):207–209. doi: 10.4103/1817-1745.123666. - DOI - PMC - PubMed
    1. Nath H.D., Mahapatra A.K., Borkar S.A. A giant occipital encephalocele with spontaneous hemorrhage into the sac: A rare case report. Asian J. Neurosurg. 2014;9(3):158–160. doi: 10.4103/1793-5482.142736. - DOI - PMC - PubMed
    1. Agarwal A., Chandak A.V., Kakani A., Reddy S. A giant occipital encephalocele. APSP J. Case Rep. 2010;1(2):16. - PMC - PubMed
    1. Shokunbi T., Adeloye A., Olumide A. Occipital encephalocoeles in 57 Nigerian children: a retrospective analysis. Childs Nerv. Syst. 1990;6(2):99–102. doi: 10.1007/BF00307930. - DOI - PubMed
    1. Herman T.E., Siegel M.J., Vachharajani A. Klippel Feil syndrome with occipital encephalocele, duodenal web, left pelvic kidney, ASD, anorectal malformation fetal and postnatal imaging. J. Perinatol. 2013;33(3):245–247. doi: 10.1038/jp.2012.155. - DOI - PubMed
    1. Stoll C., Alembik Y., Dott B. Associated malformations in cases with neural tube defects. Genet. Couns. 2007;18(2):209–215. - PubMed
    1. Chen C.P., Chern S.R., Wang W. Rapid determination of zygosity and common aneuploidies from amniotic fluid cells using quantitative fluorescent polymerase chain reaction following genetic amniocentesis in multiple pregnancies. Hum. Reprod. 2000;15(4):929–934. doi: 10.1093/humrep/15.4.929. - DOI - PubMed
    1. Kanesen D., Rosman A.K., Kandasamy R. Giant occipital encephalocele with chiari malformation type 3. J. Neurosci. Rural Pract. 2018;9(4):619–621. - PMC - PubMed
    1. https://www.malacards.org/card/occipital_encephalocele? search=occipital...
    1. Agthong S., Wiwanitkit V. Encephalomeningocele cases over 10 years in Thailand: a case series. BMC Neurol. 2002;2:3. doi: 10.1186/1471-2377-2-3. - DOI - PMC - PubMed
    1. Siffel C., Wong L.Y., Olney R.S., Correa A. Survival of infants diagnosed with encephalocele in Atlanta, 1979-98. Paediatr. Perinat. Epidemiol. 2003;17(1):40–48. doi: 10.1046/j.1365-3016.2003.00471.x. - DOI - PubMed
    1. Wen S., Ethen M., Langlois P.H., Mitchell L.E. Prevalence of encephalocele in Texas, 1999-2002. Am. J. Med. Genet. A. 2007;143A(18):2150–2155. doi: 10.1002/ajmg.a.31907. - DOI - PubMed
    1. Sadewa A.H., Sutomo R., Istiadjid M., et al. C677T mutation in the MTHFR gene was not found in patients with frontoethmoidal encephalocele in East Java, Indonesia. Pediatr. Int. 2004;46(4):409–414. doi: 10.1111/j.1442-200x.2004.01927.x. - DOI - PubMed
    1. Rehman L., Farooq G., Bukhari I. Neurosurgical Interventions for Occipital Encephalocele. Asian J. Neurosurg. 2018;13(2):233–237. doi: 10.4103/1793-5482.228549. - DOI - PMC - PubMed
    1. Kumar V., Kulwant S.B., Saurabh S., Richa S.C. Giant occipital meningoencephalocele in a neonate: A therapeutic challenge. J. Pediatr. Neurosci. 2017;12(1):46–48. doi: 10.4103/1817-1745.205655. - DOI - PMC - PubMed
    1. Satyarthee G.D., Moscote-Salazar L.R., Escobar-Hernandez N., et al. A giant occipital encephalocele in neonate with spontaneous hemorrhage into the encephalocele sac: Surgical management. J. Pediatr. Neurosci. 2017;12(3):268–270. doi: 10.4103/jpn.JPN_6_17. - DOI - PMC - PubMed
    1. Tortori-Donati P., Rossi A., Biancheri R. 2005.
    1. MEDSCAPE https://emedicine.medscape.com/article/403308-overview#a2
    1. Walia B., Bhargava P., Sandhu K. Giant Occipital EncephaloceleMed J Armed Forces India. 2005;61:293–294. doi: 10.1016/S0377-1237(05)80181-9. - DOI - PMC - PubMed
    1. CDC https://www.cdc.gov/ncbddd/birthdefects/encephalocele.html
    1. Bui C.J., Tubbs R.S., Shannon C.N., Acakpo-Satchivi L., Wellons J.C., Blount J.P., et al. Institutional experience with cranial vault encephalocele. J. Neurosurg. Pediatr. 2008;1:22–25.