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Isolated encephalocele

MedGen UID:
1830107
•Concept ID:
C5680519
•
Congenital Abnormality
Synonyms: bifid cranium; craniocele; cranium bifidum; encephalocele; Encephalocele; isolated encephalocele
SNOMED CT: Isolated encephalocele (1263449003)
 
Monarch Initiative: MONDO:0016057
Orphanet: ORPHA199647

Definition

A rare neural tube closure defect with characteristics of partial lack of bone fusion resulting in sac-like protrusions of the brain and the membranes that cover it through the openings in the skull. Protruding tissue may be located on any part of the head but most often affects the occipital area. Depending in the size and location, encephalocele are often associated with neurological problems including intellectual disability, seizures, vision impairment, ataxia and hydrocephalus. This disorder is not associated with a polymalformative syndrome. [from SNOMEDCT_US]

Professional guidelines

PubMed

Practical Algorithm for the Management of Multisutural Craniosynostosis with Associated Chiari Malformation and/or Hydrocephalus.
Aruta G, Fiaschi P, Ceraudo M, Piatelli G, Capra V, Bianconi A, Rossi A, Secci F, Pavanello M
Pediatr Neurosurg 2023;58(2):67-79. Epub 2023 Jan 31 doi: 10.1159/000529129. PMID: 36720214
Frontoethmoidal encephalocele: clinical presentation, diagnosis, treatment, and complications in 400 cases.
Arifin M, Suryaningtyas W, Bajamal AH
Childs Nerv Syst 2018 Jun;34(6):1161-1168. Epub 2018 Jan 5 doi: 10.1007/s00381-017-3716-3. PMID: 29305685
Diagnosis, treatment, and long-term outcomes of fetal hydrocephalus.
Yamasaki M, Nonaka M, Bamba Y, Teramoto C, Ban C, Pooh RK
Semin Fetal Neonatal Med 2012 Dec;17(6):330-5. Epub 2012 Oct 23 doi: 10.1016/j.siny.2012.07.004. PMID: 23089488

Recent clinical studies

Etiology

A multidisciplinary fetal neurosurgical service-5 years of fetal outcomes from a national referral centre.
O'Connor C, McParland P, Crimmins D, Caird J, Cathcart B, Hughes H, Colleran G, Mahony R, Higgins S, Carroll S, Walsh J, McAuliffe FM
Ir J Med Sci 2022 Feb;191(1):407-412. Epub 2021 Feb 27 doi: 10.1007/s11845-021-02544-z. PMID: 33638798
Maternal ethnicity and the prevalence of British pregnancies affected by neural tube defects.
Peake JN, Knowles RL, Shawe J, Rankin J, Copp AJ
Birth Defects Res 2021 Jul 15;113(12):968-980. Epub 2021 Mar 23 doi: 10.1002/bdr2.1893. PMID: 33754462Free PMC Article
Variable phenotype of Knobloch syndrome due to biallelic COL18A1 mutations in children.
Levinger N, Hendler K, Banin E, Hanany M, Kimchi A, Mechoulam H, Meiner V, Parag Y, Sharon D, Macarov M, Yahalom C
Eur J Ophthalmol 2021 Nov;31(6):3349-3354. Epub 2020 Nov 25 doi: 10.1177/1120672120977343. PMID: 33238767
Diagnosis of fetal non-chromosomal abnormalities on routine ultrasound examination at 11-13 weeks' gestation.
Syngelaki A, Hammami A, Bower S, Zidere V, Akolekar R, Nicolaides KH
Ultrasound Obstet Gynecol 2019 Oct;54(4):468-476. doi: 10.1002/uog.20844. PMID: 31408229
Syndromes with cephaloceles.
Cohen MM Jr, Lemire RJ
Teratology 1982 Apr;25(2):161-72. doi: 10.1002/tera.1420250206. PMID: 7101196

Diagnosis

A multidisciplinary fetal neurosurgical service-5 years of fetal outcomes from a national referral centre.
O'Connor C, McParland P, Crimmins D, Caird J, Cathcart B, Hughes H, Colleran G, Mahony R, Higgins S, Carroll S, Walsh J, McAuliffe FM
Ir J Med Sci 2022 Feb;191(1):407-412. Epub 2021 Feb 27 doi: 10.1007/s11845-021-02544-z. PMID: 33638798
Prenatal diagnosis of frontal encephalocele.
Marinho M, Lourenço C, Nogueira R, Valente F
J Clin Ultrasound 2020 Nov;48(9):557-559. Epub 2020 Apr 24 doi: 10.1002/jcu.22848. PMID: 33031571
Diagnosis of fetal non-chromosomal abnormalities on routine ultrasound examination at 11-13 weeks' gestation.
Syngelaki A, Hammami A, Bower S, Zidere V, Akolekar R, Nicolaides KH
Ultrasound Obstet Gynecol 2019 Oct;54(4):468-476. doi: 10.1002/uog.20844. PMID: 31408229
Frontoethmoidal encephalocele: clinical presentation, diagnosis, treatment, and complications in 400 cases.
Arifin M, Suryaningtyas W, Bajamal AH
Childs Nerv Syst 2018 Jun;34(6):1161-1168. Epub 2018 Jan 5 doi: 10.1007/s00381-017-3716-3. PMID: 29305685
Temporal bone fracture: evaluation and management in the modern era.
Johnson F, Semaan MT, Megerian CA
Otolaryngol Clin North Am 2008 Jun;41(3):597-618, x. doi: 10.1016/j.otc.2008.01.006. PMID: 18436001

Therapy

Epilepsy Surgery Outcome of Traumatic Intradiploic Meningoencephalocele: A Case Report and Literature Review.
Alsallom F, Alzahrany M, Gonzalez-Martinez J, Jehi L
Clin EEG Neurosci 2024 Mar;55(2):241-247. Epub 2022 Dec 15 doi: 10.1177/15500594221144420. PMID: 36520585
Understanding the Mothers of Children with Spina Bifida and Hydrocephalus in Tanzania.
Henderson D, Ndossi M, Majige R, Sued M, Shabani H
World Neurosurg 2020 Oct;142:e331-e336. Epub 2020 Jul 8 doi: 10.1016/j.wneu.2020.06.224. PMID: 32652272
Frontoethmoidal encephalocele: clinical presentation, diagnosis, treatment, and complications in 400 cases.
Arifin M, Suryaningtyas W, Bajamal AH
Childs Nerv Syst 2018 Jun;34(6):1161-1168. Epub 2018 Jan 5 doi: 10.1007/s00381-017-3716-3. PMID: 29305685
Surgical treatment of isolated and syndromic craniosynostosis. Results and complications in 283 consecutive cases.
Esparza J, Hinojosa J, García-Recuero I, Romance A, Pascual B, Martínez de Aragón A
Neurocirugia (Astur) 2008 Dec;19(6):509-29. doi: 10.1016/s1130-1473(08)70201-x. PMID: 19112545
Schisis-association.
Czeizel A
Am J Med Genet 1981;10(1):25-35. doi: 10.1002/ajmg.1320100105. PMID: 7294060

Prognosis

Incidence of neural tube defects and their risk factors within a cohort of Moroccan newborn infants.
Forci K, Bouaiti EA, Alami MH, Mdaghri Alaoui A, Thimou Izgua A
BMC Pediatr 2021 Mar 15;21(1):124. doi: 10.1186/s12887-021-02584-5. PMID: 33722213Free PMC Article
Neurodevelopmental outcome of children born with an isolated atretic cephalocele.
Tokatly Latzer I, Roth J, Constantini S, Malinger G, Weissmann-Brenner A, Ben-Sira L, Fattal-Valevski A, Meirson H
Childs Nerv Syst 2021 Apr;37(4):1295-1300. Epub 2021 Jan 6 doi: 10.1007/s00381-020-04997-6. PMID: 33404719
Prenatal diagnosis of frontal encephalocele.
Marinho M, Lourenço C, Nogueira R, Valente F
J Clin Ultrasound 2020 Nov;48(9):557-559. Epub 2020 Apr 24 doi: 10.1002/jcu.22848. PMID: 33031571
Isolated thoracoschisis: Case report.
Ardıçlı B, Karaman A, Özyazıcı A, Zenciroğlu A, Okumuş N
Turk J Pediatr 2017;59(2):217-220. doi: 10.24953/turkjped.2017.02.019. PMID: 29276880
How Often Does Isolated Sphenoid Sinus Disease Turn Out to be a Neoplasm?
Beton S, Basak H, Ocak E, Kucuk B, Yorulmaz I, Meco C
J Craniofac Surg 2016 Jan;27(1):41-3. doi: 10.1097/SCS.0000000000002176. PMID: 26703030

Clinical prediction guides

Persisting embryonal infundibular recess (PEIR) and transsphenoidal-transsellar encephaloceles: distinct entities or constituents of one continuum?
Azab WA, Cavallo LM, Yousef W, Khan T, Solari D, Cappabianca P
Childs Nerv Syst 2022 Jun;38(6):1059-1067. Epub 2022 Feb 22 doi: 10.1007/s00381-022-05467-x. PMID: 35192025
Neurodevelopmental outcome of children born with an isolated atretic cephalocele.
Tokatly Latzer I, Roth J, Constantini S, Malinger G, Weissmann-Brenner A, Ben-Sira L, Fattal-Valevski A, Meirson H
Childs Nerv Syst 2021 Apr;37(4):1295-1300. Epub 2021 Jan 6 doi: 10.1007/s00381-020-04997-6. PMID: 33404719
Congenital Anterior Skull Base Encephaloceles: Long-Term Outcomes After Transnasal Endoscopic Reconstruction.
Ruggiero J, Zocchi J, Gallo S, Pietrobon G, De Bernardi F, Bignami M, Locatelli D, Castelnuovo P
World Neurosurg 2020 Nov;143:e324-e333. Epub 2020 Jul 24 doi: 10.1016/j.wneu.2020.07.128. PMID: 32712408
How Often Does Isolated Sphenoid Sinus Disease Turn Out to be a Neoplasm?
Beton S, Basak H, Ocak E, Kucuk B, Yorulmaz I, Meco C
J Craniofac Surg 2016 Jan;27(1):41-3. doi: 10.1097/SCS.0000000000002176. PMID: 26703030
Survival of infants diagnosed with encephalocele in Atlanta, 1979-98.
Siffel C, Wong LY, Olney RS, Correa A
Paediatr Perinat Epidemiol 2003 Jan;17(1):40-8. doi: 10.1046/j.1365-3016.2003.00471.x. PMID: 12562471

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