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Basal encephalocele

MedGen UID:
868771
Concept ID:
C4023176
Congenital Abnormality
Synonym: basal encephalocele
SNOMED CT: Basal encephalocele (838339009)
 
HPO: HP:0011817
Monarch Initiative: MONDO:0017082
Orphanet: ORPHA268829

Definition

Basal encephalocele is an encephalocele that occurs along the cribriform plate or through the sphenoid bone. The mass may appear in the nasal cavity, nasopharynx, epipharynx, sphenoid sinus, posterior orbit, or pterygopalatine fossa. The important distinction from other types is that no external tumor is visible except in those rare instances of herniations so large that they protrude through the mouth or nares. [from HPO]

Term Hierarchy

Professional guidelines

PubMed

Dreizin D, Sakai O, Champ K, Gandhi D, Aarabi B, Nam AJ, Morales RE, Eisenman DJ
Radiographics 2021 May-Jun;41(3):762-782. Epub 2021 Apr 2 doi: 10.1148/rg.2021200189. PMID: 33797996
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Chen CP
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Recent clinical studies

Etiology

Crane-Smith Z, De Castro SCP, Nikolopoulou E, Wolujewicz P, Smedley D, Lei Y, Mather E, Santos C, Hopkinson M, Pitsillides AA; Genomics England Research Consortium, Finnell RH, Ross ME, Copp AJ, Greene NDE
Hum Mol Genet 2023 Aug 26;32(17):2681-2692. doi: 10.1093/hmg/ddad094. PMID: 37364051Free PMC Article
Morota N, Ihara S, Ogiwara H, Usami K, Tamada I, Kaneko T
J Neurosurg Pediatr 2020 Oct 30;27(1):69-78. doi: 10.3171/2020.6.PEDS20315. PMID: 33126211
Thompson HM, Schlosser RJ, McCarty Walsh E, Cho DY, Grayson JW, Karnezis TT, Miller PL, Woodworth BA
Int J Pediatr Otorhinolaryngol 2020 Apr;131:109868. Epub 2020 Jan 8 doi: 10.1016/j.ijporl.2020.109868. PMID: 31931391
Nagaraj UD, Moudgal R, Hopkin RJ, Venkatesan C, Kline-Fath BM
Pediatr Radiol 2019 Dec;49(13):1843-1847. Epub 2019 Aug 5 doi: 10.1007/s00247-019-04491-5. PMID: 31384970
Yang Z, Wang Z, Wang B, Liu P
J Clin Neurosci 2015 Dec;22(12):1916-20. doi: 10.1016/j.jocn.2015.03.066. PMID: 26256066

Diagnosis

Thompson HM, Schlosser RJ, McCarty Walsh E, Cho DY, Grayson JW, Karnezis TT, Miller PL, Woodworth BA
Int J Pediatr Otorhinolaryngol 2020 Apr;131:109868. Epub 2020 Jan 8 doi: 10.1016/j.ijporl.2020.109868. PMID: 31931391
Nagaraj UD, Moudgal R, Hopkin RJ, Venkatesan C, Kline-Fath BM
Pediatr Radiol 2019 Dec;49(13):1843-1847. Epub 2019 Aug 5 doi: 10.1007/s00247-019-04491-5. PMID: 31384970
Wang HS, Kuo MF, Huang SC
Chang Gung Med J 2005 Jul;28(7):441-52. PMID: 16231527
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Int J Oral Maxillofac Surg 1996 Apr;25(2):91-7. doi: 10.1016/s0901-5027(96)80048-8. PMID: 8727576
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Therapy

Guerra-Junior G, Spinola-Castro AM, Siviero-Miachon AA, Nogueira RG, Lemos-Marini SH, D'Souza-Li LF, Silva PC, França ES, Soardi FC, Mello MP
Arq Bras Endocrinol Metabol 2008 Nov;52(8):1221-7. doi: 10.1590/s0004-27302008000800004. PMID: 19169473
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
Gök A, Erkutlu I, Alptekin M, Kanlikama M
Acta Neurochir (Wien) 2004 Jan;146(1):53-6; discussion 56-7. Epub 2003 Dec 15 doi: 10.1007/s00701-003-0175-2. PMID: 14740265
Goldhammer Y, Smith JL
Arch Ophthalmol 1975 Feb;93(2):115-8. doi: 10.1001/archopht.1975.01010020121004. PMID: 1090290

Prognosis

Crane-Smith Z, De Castro SCP, Nikolopoulou E, Wolujewicz P, Smedley D, Lei Y, Mather E, Santos C, Hopkinson M, Pitsillides AA; Genomics England Research Consortium, Finnell RH, Ross ME, Copp AJ, Greene NDE
Hum Mol Genet 2023 Aug 26;32(17):2681-2692. doi: 10.1093/hmg/ddad094. PMID: 37364051Free PMC Article
Morota N, Ihara S, Ogiwara H, Usami K, Tamada I, Kaneko T
J Neurosurg Pediatr 2020 Oct 30;27(1):69-78. doi: 10.3171/2020.6.PEDS20315. PMID: 33126211
Nagaraj UD, Moudgal R, Hopkin RJ, Venkatesan C, Kline-Fath BM
Pediatr Radiol 2019 Dec;49(13):1843-1847. Epub 2019 Aug 5 doi: 10.1007/s00247-019-04491-5. PMID: 31384970
Yang Z, Wang Z, Wang B, Liu P
J Clin Neurosci 2015 Dec;22(12):1916-20. doi: 10.1016/j.jocn.2015.03.066. PMID: 26256066
Morioka M, Marubayashi T, Masumitsu T, Miura M, Ushio Y
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Clinical prediction guides

Crane-Smith Z, De Castro SCP, Nikolopoulou E, Wolujewicz P, Smedley D, Lei Y, Mather E, Santos C, Hopkinson M, Pitsillides AA; Genomics England Research Consortium, Finnell RH, Ross ME, Copp AJ, Greene NDE
Hum Mol Genet 2023 Aug 26;32(17):2681-2692. doi: 10.1093/hmg/ddad094. PMID: 37364051Free PMC Article
Van Gompel JJ, Khan YA, Bloomfield EL, Pallanch JF, Atkinson JL
Surg Neurol 2009 Dec;72(6):757-60. Epub 2009 Jul 14 doi: 10.1016/j.surneu.2009.05.015. PMID: 19604548
Guerra-Junior G, Spinola-Castro AM, Siviero-Miachon AA, Nogueira RG, Lemos-Marini SH, D'Souza-Li LF, Silva PC, França ES, Soardi FC, Mello MP
Arq Bras Endocrinol Metabol 2008 Nov;52(8):1221-7. doi: 10.1590/s0004-27302008000800004. PMID: 19169473
De Laey JJ, Ryckaert S, Leys A
Ophthalmic Paediatr Genet 1985 Feb;5(1-2):117-24. doi: 10.3109/13816818509007865. PMID: 3932911

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