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Sacral meningocele

MedGen UID:
101069
Concept ID:
C0521556
Congenital Abnormality
Synonyms: Congenital sacral meningocele; Sacral Meningocele; Sacral Meningomyelocele; Sacral Myelomeningocele
SNOMED CT: Congenital sacral meningocele (95478002); Sacral meningocele (95478002)
 
HPO: HP:0005765

Definition

A congenital abnormality in the sacral region of the spine in which the meninges protrude through a defect in the spinal column. [from NCI]

Conditions with this feature

Disorganization, mouse, homolog of
MedGen UID:
387773
Concept ID:
C1857230
Finding

Professional guidelines

PubMed

Dahan H, Arrivé L, Wendum D, Docou le Pointe H, Djouhri H, Tubiana JM
Radiographics 2001 May-Jun;21(3):575-84. doi: 10.1148/radiographics.21.3.g01ma13575. PMID: 11353107
Ahn NU, Sponseller PD, Ahn UM, Nallamshetty L, Rose PS, Buchowski JM, Garrett ES, Kuszyk BS, Fishman EK, Zinreich SJ
Genet Med 2000 May-Jun;2(3):173-9. doi: 10.1097/00125817-200005000-00003. PMID: 11256662
McCreath GT, Macpherson P
J Clin Ultrasound 1980 Apr;8(2):133-7. doi: 10.1002/jcu.1870080207. PMID: 6767746

Recent clinical studies

Etiology

Thomson C, Mahmood A, Yun SM, Hartley L, Botchu R, Mohmoud K, Sewell M, Mehta J
Childs Nerv Syst 2024 Jun;40(6):1791-1797. Epub 2024 Feb 27 doi: 10.1007/s00381-024-06326-7. PMID: 38411707
Gajagowni S, Altes T, Vachharajani AJ
Am J Perinatol 2024 May;41(S 01):e1156-e1162. Epub 2022 Dec 17 doi: 10.1055/a-2000-6232. PMID: 36528022
Cheng C, Tao B, Bai S, Gao G, Li S, Shang A
Spine (Phila Pa 1976) 2020 Apr 1;45(7):444-451. doi: 10.1097/BRS.0000000000003296. PMID: 31651686
Gilete-Tejero IJ, Ortega-Martínez M, Mata-Gómez J, Rico-Cotelo M, Bernal-García LM, Yerga-Lorenzana B, Casado-Naranjo I
Eur Spine J 2018 Jul;27(Suppl 3):276-280. Epub 2017 May 18 doi: 10.1007/s00586-017-5128-1. PMID: 28523383
Cho PS, Bauer SB, Pennison M, Rosoklija I, Bellows AL, Logvinenko T, Khoshbin S, Borer JG
J Pediatr Urol 2016 Jun;12(3):158.e1-7. Epub 2016 Jan 22 doi: 10.1016/j.jpurol.2015.12.008. PMID: 26897325Free PMC Article

Diagnosis

Pitsava G, Feldkamp ML, Pankratz N, Lane J, Kay DM, Conway KM, Hobbs C, Shaw GM, Reefhuis J, Jenkins MM, Almli LM, Moore C, Werler M, Browne ML, Cunniff C, Olshan AF, Pangilinan F, Brody LC, Sicko RJ, Finnell RH, Bamshad MJ, McGoldrick D, Nickerson DA, Mullikin JC, Romitti PA, Mills JL; UW Center for Mendelian Genomics, NISC Comparative Sequencing Program and the National Birth Defects Prevention Study
Birth Defects Res 2022 Apr;114(7):215-227. Epub 2022 Mar 10 doi: 10.1002/bdr2.1987. PMID: 35274497Free PMC Article
Cheng C, Tao B, Bai S, Gao G, Li S, Shang A
Spine (Phila Pa 1976) 2020 Apr 1;45(7):444-451. doi: 10.1097/BRS.0000000000003296. PMID: 31651686
Le HK, Cardona-Grau D, Chiang G
Neoreviews 2019 Dec;20(12):e711-e724. doi: 10.1542/neo.20-12-e711. PMID: 31792158
Chaturvedi A, Franco A, Chaturvedi A, Klionsky NB
Clin Imaging 2018 Nov-Dec;52:216-225. Epub 2018 Jul 21 doi: 10.1016/j.clinimag.2018.07.014. PMID: 30138861
Cho PS, Bauer SB, Pennison M, Rosoklija I, Bellows AL, Logvinenko T, Khoshbin S, Borer JG
J Pediatr Urol 2016 Jun;12(3):158.e1-7. Epub 2016 Jan 22 doi: 10.1016/j.jpurol.2015.12.008. PMID: 26897325Free PMC Article

Therapy

Erdin E, Bayatli E, Terzi M, Ergün E, Ozgural O
Childs Nerv Syst 2024 Apr;40(4):1295-1299. Epub 2024 Jan 15 doi: 10.1007/s00381-024-06286-y. PMID: 38224364
Le HK, Cardona-Grau D, Chiang G
Neoreviews 2019 Dec;20(12):e711-e724. doi: 10.1542/neo.20-12-e711. PMID: 31792158
Jeltema HR, Broens PMA, Brouwer OF, Groen RJM
Childs Nerv Syst 2019 Jul;35(7):1129-1136. Epub 2019 Apr 9 doi: 10.1007/s00381-019-04138-8. PMID: 30968178
Trapp C, Farage L, Clatterbuck RE, Romero FR, Rais-Bahrami S, Long DM, Kavoussi LR
Surg Neurol 2007 Oct;68(4):443-8; discussion 448. doi: 10.1016/j.surneu.2006.11.067. PMID: 17905071
Ivamoto HS, Wallman LJ
Arch Neurol 1974 Nov;31(5):345-6. doi: 10.1001/archneur.1974.00490410093011. PMID: 4412041

Prognosis

Thomson C, Mahmood A, Yun SM, Hartley L, Botchu R, Mohmoud K, Sewell M, Mehta J
Childs Nerv Syst 2024 Jun;40(6):1791-1797. Epub 2024 Feb 27 doi: 10.1007/s00381-024-06326-7. PMID: 38411707
Benvenuto S, Gortani G, Bussani R, Poropat F, Murru FM, Carrozzi M, Tommasini A, Taddio A
Ital J Pediatr 2021 Jul 1;47(1):146. doi: 10.1186/s13052-021-01098-1. PMID: 34210321Free PMC Article
Cheng C, Tao B, Bai S, Gao G, Li S, Shang A
Spine (Phila Pa 1976) 2020 Apr 1;45(7):444-451. doi: 10.1097/BRS.0000000000003296. PMID: 31651686
Chaturvedi A, Franco A, Chaturvedi A, Klionsky NB
Clin Imaging 2018 Nov-Dec;52:216-225. Epub 2018 Jul 21 doi: 10.1016/j.clinimag.2018.07.014. PMID: 30138861
Mottet N, Chaussy Y, Auber F, Guimiot F, Arbez-Gindre F, Riethmuller D, Cretolle C, Benachi A
J Ultrasound Med 2018 Jul;37(7):1807-1820. Epub 2018 Jan 27 doi: 10.1002/jum.14522. PMID: 29377253

Clinical prediction guides

Thomson C, Mahmood A, Yun SM, Hartley L, Botchu R, Mohmoud K, Sewell M, Mehta J
Childs Nerv Syst 2024 Jun;40(6):1791-1797. Epub 2024 Feb 27 doi: 10.1007/s00381-024-06326-7. PMID: 38411707
Pitsava G, Feldkamp ML, Pankratz N, Lane J, Kay DM, Conway KM, Hobbs C, Shaw GM, Reefhuis J, Jenkins MM, Almli LM, Moore C, Werler M, Browne ML, Cunniff C, Olshan AF, Pangilinan F, Brody LC, Sicko RJ, Finnell RH, Bamshad MJ, McGoldrick D, Nickerson DA, Mullikin JC, Romitti PA, Mills JL; UW Center for Mendelian Genomics, NISC Comparative Sequencing Program and the National Birth Defects Prevention Study
Birth Defects Res 2022 Apr;114(7):215-227. Epub 2022 Mar 10 doi: 10.1002/bdr2.1987. PMID: 35274497Free PMC Article
Porsch RM, Merello E, De Marco P, Cheng G, Rodriguez L, So M, Sham PC, Tam PK, Capra V, Cherny SS, Garcia-Barcelo MM, Campbell DD
BMC Med Genet 2016 Dec 22;17(1):98. doi: 10.1186/s12881-016-0359-2. PMID: 28007035Free PMC Article
Massimi L, Calisti A, Koutzoglou M, Di Rocco C
Childs Nerv Syst 2003 Nov;19(10-11):722-8. Epub 2003 Oct 24 doi: 10.1007/s00381-003-0814-1. PMID: 14576957
Ehara H, Tamaoki Y, Eda I
Pediatr Neurol 1999 Oct;21(4):757-62. doi: 10.1016/s0887-8994(99)00078-8. PMID: 10580893

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