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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

Hara T, Ohara Y, Kondo A
Adv Tech Stand Neurosurg 2024;49:35-50. doi: 10.1007/978-3-031-42398-7_3. PMID: 38700679
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

Wu N, Liu L, Zhang Y, Wang L, Wang S, Zhao S, Li G, Yang Y, Lin G, Shen J, Wu Z, Qiu G, Zhang TJ
J Bone Joint Surg Am 2023 Apr 5;105(7):537-548. Epub 2023 Feb 15 doi: 10.2106/JBJS.22.00277. PMID: 37017616
Zerah M, Kulkarni AV
Handb Clin Neurol 2013;112:975-91. doi: 10.1016/B978-0-444-52910-7.00018-0. PMID: 23622306
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

Diagnosis

Zerah M, Kulkarni AV
Handb Clin Neurol 2013;112:975-91. doi: 10.1016/B978-0-444-52910-7.00018-0. PMID: 23622306
Kıymaz N, Yılmaz N, Güdü BO, Demir I, Kozan A
Pediatr Neurosurg 2010;46(5):351-6. Epub 2011 Feb 24 doi: 10.1159/000323414. PMID: 21346398
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

Saxena R, Agrawal T, Saxen R, Pathak M, Nayak S, Jadhav AS, Rathod KJ, Sinha A
Pediatr Surg Int 2024 Jun 13;40(1):156. doi: 10.1007/s00383-024-05736-7. PMID: 38871828
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
Elias-Jones AC, Jaspan T, Mellor DH, Worthington BS
Arch Dis Child 1990 Sep;65(9):922-9. doi: 10.1136/adc.65.9.922. PMID: 2221962Free PMC Article

Prognosis

Arbelo-Pérez P, de Ganzo-Suárez T, de Luis-Escudero JF
Reprod Sci 2023 Dec;30(12):3563-3567. Epub 2023 Jul 25 doi: 10.1007/s43032-023-01307-8. PMID: 37491555
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

Wang C, Iwanaga J, Aysenne A, Dumont AS, Tubbs RS
Kurume Med J 2023 Sep 25;68(3.4):251-254. Epub 2023 Jun 12 doi: 10.2739/kurumemedj.MS6834003. PMID: 37302848
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
Yun-Hai S, Nan B, Ping-Ping G, Bo Y, Cheng C
Childs Nerv Syst 2015 Nov;31(11):2135-40. Epub 2015 Aug 23 doi: 10.1007/s00381-015-2874-4. PMID: 26298824Free 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
Boop FA, Chadduck WM
Neurosurgery 1991 Nov;29(5):785-7; discussion 788. doi: 10.1097/00006123-199111000-00026. PMID: 1961415

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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