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Diastematomyelia

MedGen UID:
3801
Concept ID:
C0011999
Congenital Abnormality
Synonym: Diastematomyelias
SNOMED CT: Split cord malformation (445308004); Split spinal cord malformation (445308004); Split spinal cord (445308004); Diastematomyelia (445308004)
 
Monarch Initiative: MONDO:0009106
OMIM®: 222500
Orphanet: ORPHA1671

Definition

A rare, neural tube defect characterized by localized longitudinal division of the spinal cord with an interposed osseous, cartilaginous or fibrous septum and double dural sac, typically occurring at the thoracic or lumbar level. Local vertebral segmental defects, syringomyelia, meningocele and intraspinal tumors may be associated. Variable clinical presentation includes pain, scoliosis, asymmetry and weakness of the lower limbs, neurological deficits, sphincter dysfunction, and various cutaneous abnormalities overlying the spine, such as hypertrichosis, dimple, hemangioma, subcutaneous mass or pigmented nevus. [from ORDO]

Clinical features

From HPO
Abnormality of the nervous system
MedGen UID:
105425
Concept ID:
C0497552
Congenital Abnormality
An abnormality of the nervous system.

Term Hierarchy

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

Professional guidelines

PubMed

Farhati M, Karoui A
Pan Afr Med J 2022;42:146. Epub 2022 Jun 23 doi: 10.11604/pamj.2022.42.146.35644. PMID: 36160275Free PMC Article
Vissarionov SV, Krutelev NA, Snischuk VP, Alam M, Kravchenko AP, Zheng YP, Khusainov NO
Spinal Cord Ser Cases 2018;4:109. Epub 2018 Dec 19 doi: 10.1038/s41394-018-0141-0. PMID: 30588335Free PMC Article
Bou-Haidar P, Peduto AJ, Karunaratne N
J Med Imaging Radiat Oncol 2009 Apr;53(2):152-9. doi: 10.1111/j.1754-9485.2009.02067.x. PMID: 19527360

Recent clinical studies

Etiology

Patnaik A, Mahapatra AK
Childs Nerv Syst 2013 Sep;29(9):1527-32. Epub 2013 Sep 7 doi: 10.1007/s00381-013-2161-1. PMID: 24013322
Zerah M, Kulkarni AV
Handb Clin Neurol 2013;112:975-91. doi: 10.1016/B978-0-444-52910-7.00018-0. PMID: 23622306
Huang SL, He XJ, Wang KZ, Lan BS
Spine (Phila Pa 1976) 2013 Mar 15;38(6):E344-9. doi: 10.1097/BRS.0b013e318283f6bc. PMID: 23492975
Habibi Z, Nejat F, Tajik P, Kazmi SS, Kajbafzadeh AM
Neurosurgery 2006 Jun;58(6):1168-75; discussion 1168-75. doi: 10.1227/01.NEU.0000215955.18762.32. PMID: 16723896
Dias MS, Pang D
Neurosurg Clin N Am 1995 Apr;6(2):339-58. PMID: 7620358

Diagnosis

Vissarionov SV, Krutelev NA, Snischuk VP, Alam M, Kravchenko AP, Zheng YP, Khusainov NO
Spinal Cord Ser Cases 2018;4:109. Epub 2018 Dec 19 doi: 10.1038/s41394-018-0141-0. PMID: 30588335Free PMC Article
Zerah M, Kulkarni AV
Handb Clin Neurol 2013;112:975-91. doi: 10.1016/B978-0-444-52910-7.00018-0. PMID: 23622306
Bou-Haidar P, Peduto AJ, Karunaratne N
J Med Imaging Radiat Oncol 2009 Apr;53(2):152-9. doi: 10.1111/j.1754-9485.2009.02067.x. PMID: 19527360
Habibi Z, Nejat F, Tajik P, Kazmi SS, Kajbafzadeh AM
Neurosurgery 2006 Jun;58(6):1168-75; discussion 1168-75. doi: 10.1227/01.NEU.0000215955.18762.32. PMID: 16723896
Dias MS, Pang D
Neurosurg Clin N Am 1995 Apr;6(2):339-58. PMID: 7620358

Therapy

Wang X, Yu Y, Yang N, Xia L
J Orthop Surg Res 2020 Oct 21;15(1):485. doi: 10.1186/s13018-020-02015-8. PMID: 33087139Free PMC Article
Jagadeesh NH, Mallepally AR, Marathe N, Sharma A, Tandon V
World Neurosurg 2020 Aug;140:89-95. Epub 2020 May 11 doi: 10.1016/j.wneu.2020.05.039. PMID: 32407923
Vashi RA, Mancini AJ, Paller AS
Arch Dermatol 2001 Jul;137(7):877-84. PMID: 11453806
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
Linn RM, Ford LT
Spine (Phila Pa 1976) 1994 Apr 1;19(7):852-4. doi: 10.1097/00007632-199404000-00024. PMID: 8202809

Prognosis

Patnaik A, Mahapatra AK
Childs Nerv Syst 2013 Sep;29(9):1527-32. Epub 2013 Sep 7 doi: 10.1007/s00381-013-2161-1. PMID: 24013322
Huang SL, He XJ, Wang KZ, Lan BS
Spine (Phila Pa 1976) 2013 Mar 15;38(6):E344-9. doi: 10.1097/BRS.0b013e318283f6bc. PMID: 23492975
Habibi Z, Nejat F, Tajik P, Kazmi SS, Kajbafzadeh AM
Neurosurgery 2006 Jun;58(6):1168-75; discussion 1168-75. doi: 10.1227/01.NEU.0000215955.18762.32. PMID: 16723896
Dias MS, Pang D
Neurosurg Clin N Am 1995 Apr;6(2):339-58. PMID: 7620358
Russell NA, Benoit BG, Joaquin AJ
Pediatr Neurosurg 1990-1991;16(4-5):252-7. doi: 10.1159/000120536. PMID: 2135196

Clinical prediction guides

Balci M, Yuksel U, Akkaya MA, Akkaya S, Sagsoz N
Childs Nerv Syst 2021 Jul;37(7):2245-2249. Epub 2021 Jan 6 doi: 10.1007/s00381-020-05017-3. PMID: 33404722
Vissarionov SV, Krutelev NA, Snischuk VP, Alam M, Kravchenko AP, Zheng YP, Khusainov NO
Spinal Cord Ser Cases 2018;4:109. Epub 2018 Dec 19 doi: 10.1038/s41394-018-0141-0. PMID: 30588335Free PMC Article
Huang SL, He XJ, Wang KZ, Lan BS
Spine (Phila Pa 1976) 2013 Mar 15;38(6):E344-9. doi: 10.1097/BRS.0b013e318283f6bc. PMID: 23492975
Williams MS
Am J Med Genet A 2003 Aug 1;120A(4):583-7. doi: 10.1002/ajmg.a.20091. PMID: 12884444
Anderson NG, Jordan S, MacFarlane MR, Lovell-Smith M
AJR Am J Roentgenol 1994 Oct;163(4):911-4. doi: 10.2214/ajr.163.4.8092034. PMID: 8092034

Recent systematic reviews

Hazneci J, Bastacı F, Börekci A, Öztürk ÖÇ, İş M, Somay A, Ekşi MŞ, Çelikoğlu E
Childs Nerv Syst 2022 Oct;38(10):1977-1986. Epub 2022 Jun 10 doi: 10.1007/s00381-022-05578-5. PMID: 35687168
Wang X, Yu Y, Yang N, Xia L
J Orthop Surg Res 2020 Oct 21;15(1):485. doi: 10.1186/s13018-020-02015-8. PMID: 33087139Free PMC Article
Heyns A, Negrini S, Jansen K, Moens P, Schelfaut S, Peers K, Kiekens C
Am J Phys Med Rehabil 2018 Nov;97(11):848-854. doi: 10.1097/PHM.0000000000000966. PMID: 29757767

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