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Myelocystocele

MedGen UID:
1639659
•Concept ID:
C4551677
•
Congenital Abnormality
Synonym: myelocystocele
SNOMED CT: Myelocystocele (203994003)
Modes of inheritance:
Non-Mendelian inheritance
MedGen UID:
109109
•Concept ID:
C0600599
•
Genetic Function
Source: Orphanet
A mode of inheritance that depends on genetic determinants in more than one gene.
Not genetically inherited
MedGen UID:
988794
•Concept ID:
CN307044
•
Finding
Source: Orphanet
clinical entity without genetic inheritance.
See: This record
Non-Mendelian inheritance (Orphanet)
Not genetically inherited (Orphanet)
 
HPO: HP:0030709
Monarch Initiative: MONDO:0017077
Orphanet: ORPHA268813

Definition

Myelocystocele is characterized by a large, ependyma-lined, cystic dilation of the caudal end of the central canal of the spinal cord; it projects dorsally through a lamina defect, with overlying varying amounts of lipomatous subcutaneous tissue. Myelocystoceles are associated with a tethered cord and meningocele, which communicates with the spinal subarachnoid space, but not with the central canal cyst. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMyelocystocele

Professional guidelines

PubMed

Surgical management of myelocystocele: a single-center experience with long-term functional outcomes.
Behbahani M, Shlobin NA, Dziugan K, Callas H, Meyer T, Yerkes E, Swaroop VT, DeCuypere M, Lam S, McLone D, Bowman R
J Neurosurg Pediatr 2022 May 1;29(5):488-496. Epub 2022 Feb 4 doi: 10.3171/2021.12.PEDS21371. PMID: 35120320
Psychosocial outcomes for adults with spina bifida: a scoping review protocol.
Betz CL, Smith KA, Kysh L, Roland M, Van Speybroeck A, Castillo P, Liley F, Hudson S, Mannino JE
JBI Evid Synth 2020 May;18(5):1135-1143. doi: 10.11124/JBISRIR-D-19-00072. PMID: 32813368
Cervical myelocystocele: prenatal diagnosis and therapeutical considerations.
Salomão JF, Leibinger RD, Bellas AR
Childs Nerv Syst 2009 Sep;25(9):1045. Epub 2009 Jun 24 doi: 10.1007/s00381-009-0932-5. PMID: 19551388

Recent clinical studies

Etiology

Surgical management of myelocystocele: a single-center experience with long-term functional outcomes.
Behbahani M, Shlobin NA, Dziugan K, Callas H, Meyer T, Yerkes E, Swaroop VT, DeCuypere M, Lam S, McLone D, Bowman R
J Neurosurg Pediatr 2022 May 1;29(5):488-496. Epub 2022 Feb 4 doi: 10.3171/2021.12.PEDS21371. PMID: 35120320
Congenital Spinal Lipomatous Malformations. Part 1. Spinal Lipomas, Lipomyeloceles, and Lipomyelomeningoceles.
Rhodes RH
Fetal Pediatr Pathol 2020 Jun;39(3):194-245. Epub 2019 Jul 25 doi: 10.1080/15513815.2019.1641859. PMID: 31342816
Terminal myelocystocele: a series of 30 cases and review of the literature.
Tandon V, Garg K, Mahapatra AK
Pediatr Neurosurg 2012;48(4):229-35. Epub 2013 Mar 23 doi: 10.1159/000349915. PMID: 23548822
Terminal myelocystocele.
James HE, Lubinsky G
J Neurosurg 2005 Nov;103(5 Suppl):443-5. doi: 10.3171/ped.2005.103.5.0443. PMID: 16302617
Terminal myelocystocele.
Jaiswal AK, Mahapatra AK
J Clin Neurosci 2005 Apr;12(3):249-52. doi: 10.1016/j.jocn.2004.03.038. PMID: 15851075

Diagnosis

Congenital Spinal Lipomatous Malformations. Part 1. Spinal Lipomas, Lipomyeloceles, and Lipomyelomeningoceles.
Rhodes RH
Fetal Pediatr Pathol 2020 Jun;39(3):194-245. Epub 2019 Jul 25 doi: 10.1080/15513815.2019.1641859. PMID: 31342816
Caudal cell mass developmental aberrations: an imaging approach.
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
Cervicothoracic cystic dysraphism.
Valeur NS, Iyer RS, Ishak GE
Pediatr Radiol 2016 Sep;46(10):1471-81. Epub 2016 May 5 doi: 10.1007/s00247-016-3632-9. PMID: 27147079
Terminal myelocystocele: a series of 30 cases and review of the literature.
Tandon V, Garg K, Mahapatra AK
Pediatr Neurosurg 2012;48(4):229-35. Epub 2013 Mar 23 doi: 10.1159/000349915. PMID: 23548822
Terminal myelocystocele.
James HE, Lubinsky G
J Neurosurg 2005 Nov;103(5 Suppl):443-5. doi: 10.3171/ped.2005.103.5.0443. PMID: 16302617

Therapy

Progressive-Tension Sutures in Reconstruction of Posterior Trunk Defects in Pediatric Patients: A Prospective Series.
Crowe CS, Hauptman JS, Lee A, Ellenbogen RG, Ettinger RE, Susarla SM
Plast Reconstr Surg 2022 Aug 1;150(2):435e-438e. Epub 2022 Jun 9 doi: 10.1097/PRS.0000000000009331. PMID: 35674641
Early de-tethering: analysis of urological and clinical consequences in a series of 40 children.
Valentini LG, Babini M, Cordella R, Beretta E, Destro F, Murabito P, Caldiroli D, Devigili G, Selvaggio G
Childs Nerv Syst 2021 Mar;37(3):941-949. Epub 2020 Jul 29 doi: 10.1007/s00381-020-04838-6. PMID: 32728933
Neural tube defects: review of experimental evidence on stem cell therapy and newer treatment options.
Dhaulakhandi DB, Rohilla S, Rattan KN
Fetal Diagn Ther 2010;28(2):72-8. Epub 2010 Jul 31 doi: 10.1159/000318201. PMID: 20689263
US of the spinal cord in newborns: spectrum of normal findings, variants, congenital anomalies, and acquired diseases.
Unsinn KM, Geley T, Freund MC, Gassner I
Radiographics 2000 Jul-Aug;20(4):923-38. doi: 10.1148/radiographics.20.4.g00jl06923. PMID: 10903684
Myelocystocele-cloacal exstrophy in a pedigree with a mitochondrial 12S rRNA mutation, aminoglycoside-induced deafness, pigmentary disturbances, and spinal anomalies.
Nye JS, Hayes EA, Amendola M, Vaughn D, Charrow J, McLone DG, Speer MC, Nance WE, Pandya A
Teratology 2000 Mar;61(3):165-71. doi: 10.1002/(SICI)1096-9926(200003)61:3<165::AID-TERA3>3.0.CO;2-E. PMID: 10661905

Prognosis

Caudal cell mass developmental aberrations: an imaging approach.
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
Cervicothoracic cystic dysraphism.
Valeur NS, Iyer RS, Ishak GE
Pediatr Radiol 2016 Sep;46(10):1471-81. Epub 2016 May 5 doi: 10.1007/s00247-016-3632-9. PMID: 27147079
Terminal myelocystocele: a series of 30 cases and review of the literature.
Tandon V, Garg K, Mahapatra AK
Pediatr Neurosurg 2012;48(4):229-35. Epub 2013 Mar 23 doi: 10.1159/000349915. PMID: 23548822
Terminal myelocystocele.
James HE, Lubinsky G
J Neurosurg 2005 Nov;103(5 Suppl):443-5. doi: 10.3171/ped.2005.103.5.0443. PMID: 16302617
Terminal myelocystocele.
Jaiswal AK, Mahapatra AK
J Clin Neurosci 2005 Apr;12(3):249-52. doi: 10.1016/j.jocn.2004.03.038. PMID: 15851075

Clinical prediction guides

Secondary Neurulation Defect: Terminal Myelocystocele, a Biological Leviathan.
Lee JY, Wang KC, Pang D
Adv Tech Stand Neurosurg 2023;47:225-234. doi: 10.1007/978-3-031-34981-2_8. PMID: 37640877
Terminal myelocystocele: a series of 30 cases and review of the literature.
Tandon V, Garg K, Mahapatra AK
Pediatr Neurosurg 2012;48(4):229-35. Epub 2013 Mar 23 doi: 10.1159/000349915. PMID: 23548822
Terminal myelocystocele: surgical observations and theory of embryogenesis.
Pang D, Zovickian J, Lee JY, Moes GS, Wang KC
Neurosurgery 2012 Jun;70(6):1383-404; discussion 1404-5. doi: 10.1227/NEU.0b013e31824c02c0. PMID: 22270234
Spectrum of nonterminal myelocystoceles.
Rossi A, Piatelli G, Gandolfo C, Pavanello M, Hoffmann C, Van Goethem JW, Cama A, Tortori-Donati P
Neurosurgery 2006 Mar;58(3):509-15; discussion 509-15. doi: 10.1227/01.NEU.0000197122.92954.82. PMID: 16528191
Multiple coexistent dysraphic pathologies.
Solanki GA, Evans J, Copp A, Thompson DN
Childs Nerv Syst 2003 Jun;19(5-6):376-9. Epub 2003 Apr 12 doi: 10.1007/s00381-003-0728-y. PMID: 12692674

Recent systematic reviews

Cervical saccular limited dorsal myeloschisis, so-called "cervical myelomeningocele": long-term follow-up of a single-center series and systematic review.
Maroufi SF, Dabbagh Ohadi MA, Hosseinnejad I, Tayebi Meybodi K, Takzare A, Ashjaei B, Nejat F, Habibi Z
J Neurosurg Pediatr 2024 Jan 1;33(1):44-58. Epub 2023 Oct 20 doi: 10.3171/2023.8.PEDS23271. PMID: 37862714

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