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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

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
Diagnosis and treatment of isolated sphenoid sinus disease: a review of 109 cases.
Socher JA, Cassano M, Filheiro CA, Cassano P, Felippu A
Acta Otolaryngol 2008 Sep;128(9):1004-10. doi: 10.1080/00016480701793735. PMID: 19086308

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
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
Imaging of facial anomalies.
Castillo M, Mukherji SK
Curr Probl Diagn Radiol 1995 Sep-Oct;25(5):169-88. PMID: 8889386
Syndromes with cephaloceles.
Cohen MM Jr, Lemire RJ
Teratology 1982 Apr;25(2):161-72. doi: 10.1002/tera.1420250206. PMID: 7101196
Etiologic heterogeneity of neural-tube defects.
Holmes LB, Driscoll SG, Atkins L
N Engl J Med 1976 Feb 12;294(7):365-9. doi: 10.1056/NEJM197602122940704. PMID: 1107843

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
The cavum septi pellucidi: why is it important?
Winter TC, Kennedy AM, Byrne J, Woodward PJ
J Ultrasound Med 2010 Mar;29(3):427-44. doi: 10.7863/jum.2010.29.3.427. PMID: 20194938
Imaging of facial anomalies.
Castillo M, Mukherji SK
Curr Probl Diagn Radiol 1995 Sep-Oct;25(5):169-88. PMID: 8889386

Therapy

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
Index of suspicion.
Pathare S, Gadikota K, Someshwar J, Nield LS, Baskaran C, Raza S, Hathaway JW, Macariola DR, Hollinger S
Pediatr Rev 2012 Sep;33(9):427-33. doi: 10.1542/pir.33-9-427. PMID: 22942368
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
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
Sonographic spectrum of first-trimester fetal cephalocele: review of 35 cases.
Sepulveda W, Wong AE, Andreeva E, Odegova N, Martinez-Ten P, Meagher S
Ultrasound Obstet Gynecol 2015 Jul;46(1):29-33. Epub 2015 Jun 4 doi: 10.1002/uog.14661. PMID: 25195877
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

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
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
Loss-of-Function Variants in PPP1R12A: From Isolated Sex Reversal to Holoprosencephaly Spectrum and Urogenital Malformations.
Hughes JJ, Alkhunaizi E, Kruszka P, Pyle LC, Grange DK, Berger SI, Payne KK, Masser-Frye D, Hu T, Christie MR, Clegg NJ, Everson JL, Martinez AF, Walsh LE, Bedoukian E, Jones MC, Harris CJ, Riedhammer KM, Choukair D, Fechner PY, Rutter MM, Hufnagel SB, Roifman M, Kletter GB, Delot E, Vilain E, Lipinski RJ, Vezina CM, Muenke M, Chitayat D
Am J Hum Genet 2020 Jan 2;106(1):121-128. Epub 2019 Dec 26 doi: 10.1016/j.ajhg.2019.12.004. PMID: 31883643Free PMC Article
Time trends in the prevalence and epidemiological characteristics of neural tube defects in Liaoning Province, China, 2006-2015: A population-based study.
Zhang TN, Gong TT, Chen YL, Wu QJ, Zhang Y, Jiang CZ, Li J, Li LL, Zhou C, Huang YH
Oncotarget 2017 Mar 7;8(10):17092-17104. doi: 10.18632/oncotarget.15060. PMID: 28177882Free PMC Article
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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