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Nasal encephalocele

MedGen UID:
507680
Concept ID:
C0014066
Congenital Abnormality
Synonym: nasal encephalocele
SNOMED CT: Nasal encephalocele (65455002)
Modes of inheritance:
Unknown inheritance
MedGen UID:
989040
Concept ID:
CN307042
Finding
Source: Orphanet
Hereditary clinical entity whose mode of inheritance is unknown.
 
Monarch Initiative: MONDO:0015394
Orphanet: ORPHA141118

Definition

Nasal encephalocele is an extracranial herniation of intracranial contents (that maintain a connection to the subarachnoid space) into the fonticulus frontalis, presenting with nasal broadening and/or as a compressible, blue, pulsatile mass near the nasal bridge (that enlarges on crying or with jugular vein compression) or as an intranasal mass originating in the cribiform plate and that can cause nasal obstruction or respiratory distress. Hydrocephalus and increased intracranial pressure are also reported in some cases. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVNasal encephalocele
Follow this link to review classifications for Nasal encephalocele in Orphanet.

Professional guidelines

PubMed

Alberts A, Lucke-Wold B
J Integr Neurosci 2023 May 19;22(3):79. doi: 10.31083/j.jin2203079. PMID: 37258446
London NR Jr, Reh DD
Adv Otorhinolaryngol 2016;79:1-12. Epub 2016 Jul 28 doi: 10.1159/000444957. PMID: 27466841
Tirumandas M, Sharma A, Gbenimacho I, Shoja MM, Tubbs RS, Oakes WJ, Loukas M
Childs Nerv Syst 2013 May;29(5):739-44. Epub 2012 Dec 18 doi: 10.1007/s00381-012-1998-z. PMID: 23247827

Recent clinical studies

Etiology

Mohindra S, Mohindra S, Mahendru S, Patil NR
Childs Nerv Syst 2020 Dec;36(12):3059-3062. Epub 2020 May 8 doi: 10.1007/s00381-020-04649-9. PMID: 32382868
Abdel-Aziz M, El-Bosraty H, Qotb M, El-Hamamsy M, El-Sonbaty M, Abdel-Badie H, Zynabdeen M
Int J Pediatr Otorhinolaryngol 2010 Aug;74(8):869-73. doi: 10.1016/j.ijporl.2010.04.015. PMID: 20554034
Turgut M, Ozcan OE, Benli K, Ozgen T, Gürçay O, Sağlam S, Bertan V, Erbengi A
J Craniomaxillofac Surg 1995 Feb;23(1):1-5. doi: 10.1016/s1010-5182(05)80246-x. PMID: 7699076
Hudgins PA, Browning DG, Gallups J, Gussack GS, Peterman SB, Davis PC, Silverstein AM, Beckett WW, Hoffman JC Jr
AJNR Am J Neuroradiol 1992 Jul-Aug;13(4):1161-7. PMID: 1636530Free PMC Article
Burton BK, Schulz CJ, Burd LI
Obstet Gynecol 1992 May;79(5 ( Pt 1)):726-30. PMID: 1565357

Diagnosis

Goyal N, Patil A, Vathulya M, Kumawat D, Bhatia R, Agrawal S
Pediatr Neurosurg 2021;56(1):67-72. Epub 2021 Feb 15 doi: 10.1159/000513372. PMID: 33588414
Horcajadas A, Palma A, Khalon BM
Neurocirugia (Astur : Engl Ed) 2019 Mar-Apr;30(2):94-99. Epub 2018 Mar 31 doi: 10.1016/j.neucir.2018.02.006. PMID: 29610064
Abdel-Aziz M, El-Bosraty H, Qotb M, El-Hamamsy M, El-Sonbaty M, Abdel-Badie H, Zynabdeen M
Int J Pediatr Otorhinolaryngol 2010 Aug;74(8):869-73. doi: 10.1016/j.ijporl.2010.04.015. PMID: 20554034
Gupta DK, Mahapatra AK
Pediatr Neurosurg 2006;42(5):335-7. doi: 10.1159/000094075. PMID: 16902351
Hughes GB, Sharpino G, Hunt W, Tucker HM
Head Neck Surg 1980 Jan-Feb;2(3):222-33. doi: 10.1002/hed.2890020308. PMID: 7353954

Therapy

Abdel-Aziz M, El-Bosraty H, Qotb M, El-Hamamsy M, El-Sonbaty M, Abdel-Badie H, Zynabdeen M
Int J Pediatr Otorhinolaryngol 2010 Aug;74(8):869-73. doi: 10.1016/j.ijporl.2010.04.015. PMID: 20554034
Bannister CM, Kashab M, Dagestani H, Placzek M
Arch Dis Child 1993 Jul;69(1 Spec No):81-2. doi: 10.1136/adc.69.1_spec_no.81. PMID: 8346963Free PMC Article
Burton BK, Schulz CJ, Burd LI
Obstet Gynecol 1992 May;79(5 ( Pt 1)):726-30. PMID: 1565357

Prognosis

Abdel-Aziz M, El-Bosraty H, Qotb M, El-Hamamsy M, El-Sonbaty M, Abdel-Badie H, Zynabdeen M
Int J Pediatr Otorhinolaryngol 2010 Aug;74(8):869-73. doi: 10.1016/j.ijporl.2010.04.015. PMID: 20554034
Hudgins PA, Browning DG, Gallups J, Gussack GS, Peterman SB, Davis PC, Silverstein AM, Beckett WW, Hoffman JC Jr
AJNR Am J Neuroradiol 1992 Jul-Aug;13(4):1161-7. PMID: 1636530Free PMC Article

Clinical prediction guides

Hudgins PA, Browning DG, Gallups J, Gussack GS, Peterman SB, Davis PC, Silverstein AM, Beckett WW, Hoffman JC Jr
AJNR Am J Neuroradiol 1992 Jul-Aug;13(4):1161-7. PMID: 1636530Free PMC Article
Burton BK, Schulz CJ, Burd LI
Obstet Gynecol 1992 May;79(5 ( Pt 1)):726-30. PMID: 1565357

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