Occipital Encephalocele: Cause, Incidence, Neuroimaging and Surgical Management

Author(s): Ivana Markovic, Petar Bosnjakovic, Zoran Milenkovic*

Journal Name: Current Pediatric Reviews

Volume 16 , Issue 3 , 2020


Become EABM
Become Reviewer
Call for Editor

Graphical Abstract:


Abstract:

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, incidence, neuroimaging, cerebrospinal fluid, neuroimaging techniques.

[1]
Ugras M, Kavak O, Alpay F, Karabekir SH, Bicer S. New Born Children with Encephalocele Journal of Neurology and Neuroscience 2016; 7(73): 1-4.
[2]
Franco A, Jo SY, Mehta AS, Pandya DJ, Yang CW. A Rare Triad of Giant Occipital Encephalocele with Lipomyelomeningocele, Tetralogy of Fallot, and Situs Inversus. J Radiol Case Rep 2016; 10(3): 36-46.
[http://dx.doi.org/10.3941/jrcr.v10i3.2718] [PMID: 27200165]
[4]
Verma SK, Satyarthee GD, Singh PK. Pediatr Neurosci 2013; 8(3): 207-9.
[http://dx.doi.org/10.4103/1817-1745.123666]
[5]
Nath HD, Mahapatra AK, Borkar SA. A giant occipital encephalocele with spontaneous hemorrhage into the sac: A rare case report. Asian J Neurosurg 2014; 9(3): 158-60.
[http://dx.doi.org/10.4103/1793-5482.142736] [PMID: 25685207]
[6]
Agarwal A, Chandak AV, Kakani A, Reddy S. A giant occipital encephalocele. APSP J Case Rep 2010; 1(2): 16.
[7]
Shokunbi T, Adeloye A, Olumide A. Occipital encephalocoeles in 57 Nigerian children: a retrospective analysis. Childs Nerv Syst 1990; 6(2): 99-102.
[http://dx.doi.org/10.1007/BF00307930] [PMID: 2340537]
[8]
Herman TE, Siegel MJ, 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): 245-7.
[http://dx.doi.org/10.1038/jp.2012.155] [PMID: 23443296]
[9]
Stoll C, Alembik Y, Dott B. Associated malformations in cases with neural tube defects. Genet Couns 2007; 18(2): 209-15.
[10]
Chen CP, Chern SR, 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): 929-34.
[http://dx.doi.org/10.1093/humrep/15.4.929] [PMID: 10739844]
[11]
Kanesen D, Rosman AK, Kandasamy R. Giant occipital encephalocele with chiari malformation type 3. J Neurosci Rural Pract 2018; 9(4): 619-21.
[13]
Agthong S, Wiwanitkit V. Encephalomeningocele cases over 10 years in Thailand: a case series. BMC Neurol 2002; 2: 3.
[http://dx.doi.org/10.1186/1471-2377-2-3] [PMID: 12010577]
[14]
Siffel C, Wong LY, Olney RS, Correa A. Survival of infants diagnosed with encephalocele in Atlanta, 1979-98. Paediatr Perinat Epidemiol 2003; 17(1): 40-8.
[http://dx.doi.org/10.1046/j.1365-3016.2003.00471.x] [PMID: 12562471]
[15]
Wen S, Ethen M, Langlois PH, Mitchell LE. Prevalence of encephalocele in Texas, 1999-2002. Am J Med Genet A 2007; 143A(18): 2150-5.
[http://dx.doi.org/10.1002/ajmg.a.31907] [PMID: 17702023]
[16]
Sadewa AH, 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): 409-14.
[http://dx.doi.org/10.1111/j.1442-200x.2004.01927.x] [PMID: 15310304]
[17]
Rehman L, Farooq G, Bukhari I. Neurosurgical Interventions for Occipital Encephalocele. Asian J Neurosurg 2018; 13(2): 233-7.
[http://dx.doi.org/10.4103/1793-5482.228549] [PMID: 29682014]
[18]
Kumar V, Kulwant SB, Saurabh S, Richa SC. Giant occipital meningoencephalocele in a neonate: A therapeutic challenge. J Pediatr Neurosci 2017; 12(1): 46-8.
[http://dx.doi.org/10.4103/1817-1745.205655] [PMID: 28553380]
[19]
Satyarthee GD, Moscote-Salazar LR, 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): 268-70.
[http://dx.doi.org/10.4103/jpn.JPN_6_17] [PMID: 29204205]
[20]
Tortori-Donati P, Rossi A, Biancheri R. 2005.
[22]
Walia B, Bhargava P, Sandhu K. Giant Occipital EncephaloceleMed J Armed Forces India 2005; 61: 293-4.
[http://dx.doi.org/10.1016/S0377-1237(05)80181-9]
[24]
Bui CJ, Tubbs RS, Shannon CN, Acakpo-Satchivi L, Wellons JC, Blount JP, et al. Institutional experience with cranial vault encephalocele. J Neurosurg Pediatr 2008; 1: 22-5.


open access plus

Rights & PermissionsPrintExport Cite as

Article Details

VOLUME: 16
ISSUE: 3
Year: 2020
Published on: 05 November, 2020
Page: [200 - 205]
Pages: 6
DOI: 10.2174/1573396315666191018161535

Article Metrics

PDF: 41
HTML: 1