medigraphic.com

2024, Number 5

<< Back Next >>

Rev Fac Med UNAM 2024; 67 (5)

Neural Tube Defect: Occipital Encephalocele. A case Report

Santiago-Sanabria L, Morales-Martínez OG, Alonso-León Marco-César, Sanabria-Villegas LC, Sánchez-Alquicira B, Ignacio-García MG

Language: Spanish
References: 23
Page: 29-36
PDF size: 233.11 Kb.


ABSTRACT

Encephalocele is a rare congenital malformation of the central nervous system. The prevalence is estimated to be about 1 in 5,000-40,000 live births. It can affect various anatomical locations such as the occipital, frontal, temporal, and parietal regions.
The fourth and fifth weeks of embryonic development are critical for the development of the head and neck. When there is a failure in the separation of the superficial ectoderm from the neuroectoderm, neural tube defects occur, from which encephaloceles may arise. Genetically it can be explained by the dysembryological theory, which involves certain mutated genes that interfere with important cellular mechanisms in early neuronal development.
Currently, thanks to prenatal screening tools such as ultrasound, it is possible to identify them from intrauterine life. It is extremely important to make an early diagnosis to establish protocols and provide individualized treatment, involving a multidisciplinary team will be involved.
Even though some cases are usually compatible with life, the expected prognosis of the anatomical site involved as well as timely surgical management. One of the most important sequelae is intellectual deficit.


REFERENCES

  1. Copp AJ, Greene NDE. Neural tube defects-disorders ofneurulation and related embryonic processes. Wiley InterdiscipRev Dev Biol. Res. 2013;2(2):213-227. doi:10.1002/wdev.71

  2. Sorolla P. Anomalías craneofaciales. Rev Médica Clínica LasCondes. 2010;21(1):5-15. doi:10.1016/s0716-8640(10)70500-9

  3. Monteagudo A. Posterior Encephalocele. Am J Obstet Gynecol.2020;223(6):B9-B12. doi:10.1016/j.ajog.2020.08.177

  4. Markovic I, Bosnjakovic P, Milenkovic Z. Occipital Encephalocele:Cause, Incidence, Neuroimaging and SurgicalManagement. Curr Pediatr Rev. 2019;16(3):200-205.doi:10.2174/1573396315666191018161535

  5. Horcajadas A, Palma A, Khalon BM. Frontoethmoidalencephalocele. Report of a case. Neurocirugia. 2019;30(2):94-99. doi:10.1016/j.neucir.2018.02.006

  6. Meunier S, Michalak S, Chaigneau J, Mercier P, et.al.Une tuméfaction occipitale douloureuse révélant une encéphalocèlepostérieure. Ann Pathol. 2014;34(4):334-338.doi:10.1016/j.annpat.2014.04.008

  7. Universitario M. Encefalocele intrauterino a propósitode un caso. 2019;3. doi:10.26820/recimundo/3.(2).abril.2019.1306-1315

  8. Yucetas SC, Uçler N. A Retrospective Analysis of NeonatalEncephalocele Predisposing Factors and Outcomes. PediatrNeurosurg. 2017;52(2):73-76. doi:10.1159/000452805

  9. Bruechle NO, Steuernagel P, Zerres K, et.al. Uniparentaldisomy as an unexpected cause of Meckel–Gruber syndrome:report of a case. Pediatr Nephrol. 2017;32(10):1989-1992. doi:10.1007/s00467-017-3710-8

  10. Leblanc R, Tampieri D, Robitaille Y, Olivier A, et.al.Developmental anterobasal temporal encephalocele andtemporal lobe epilepsy. J Neurosurg. 1991;74(6):933-939.doi:10.3171/jns.1991.74.6.0933

  11. Van Wyhe RD, Chamata ES, Hollier LH. Midline craniofacialmasses in children. Semin Plast Surg. 2016;30(4):176-180. doi:10.1055/s-0036-1593482

  12. Protzenko T, Dos Santos Gomes Junior SC, Bellas A, et.al.Hydrocephalus and occipital encephaloceles: presentationof a series and review of the literature. Child’s Nerv Syst.2021;37(11):3437-3445. doi:10.1007/s00381-021-05312-7

  13. Rodríguez FB. Desarrollo embrionario del sistema nerviosocentral y órganos de los sentidos: revisión / EmbryonicCentral Nervous System and Sense Organ Development:Review. Univ Odontol. 2012;31(66):125-132.

  14. Secretaría de Salud. Procedimientos estandarizados parala vigilancia epidemiológica de los defectos al nacimiento.Gob México Manuales. 2023;1(1):1-70.

  15. Shah CK, Lee RY, Jeph S. In-utero Diagnosis of Double Encephalocele- Imaging Features and Review of Literature. JRadiol Case Rep. 2021;15(12):1-9. doi:10.3941/jrcr.v15i12.4230

  16. Pyakurel B, Lamichhane A, Bhandari B, et.al. S. Occipitalencephalocele with multiple birth defects: A casereport. J Nepal Med Assoc. 2021; 59(242):1040-1043.doi:10.31729/JNMA.6542

  17. Ivashchuk G, Loukas M, Blount JP, et.al. Chiari IIImalformation: a comprehensive review of this enigmaticanomaly. Child’s Nerv Syst. 2015;31(11):2035-2040.doi:10.1007/s00381-015-2853-9

  18. Naik V, Marulasiddapp V GM. Giant Encephalocele: ARare Case Report and Review of Literature. Asian J Neurosurg.2019;14:289-291. doi:10.4103/ajns.AJNS_87_18

  19. Bulut MD, Yavuz A, Bora A, et.al. Chiari III malformationwith a giant encephalocele sac: Case report and a reviewof the literature. Pediatr Neurosurg. 2013;49(5):316-319.doi:10.1159/000365661

  20. Huppke P, Wegener E, Böhrer-Rabel H, et al. Tectonic genemutations in patients with Joubert syndrome. Eur J HumGenet. 2015;23(5):616-620. doi:10.1038/ejhg.2014.160

  21. Goyal N, Singh PK, Kakkar A, Sharma MC, et.al. Matureteratoma in association with neural tube defect (OccipitalEncephalocele): Series of four cases and review ofthe literature. Pediatr Neurosurg. 2012;48(2):67-72. doi:10.1159/000339090

  22. Goulart L, Ferreira L da SM. Tectocerebellar dysraphiaand occipital encephalocele associated with trisomy X:case report and review of the literature. 2021; https://doi.org/10.1007/s00381-020-04989-6

  23. Dadmehr M, Nejat F, El Khashab M, et al. Risk factors associatedwith occipital encephalocele: A case-control study- Clinical article. J Neurosurg Pediatr. 2009;3(6):534-537.doi:10.3171/2009.2.PEDS08436




2020     |     www.medigraphic.com