Abstract
The spine forms via complex mechanisms requiring two halves of the body to join at midline. Dysraphism literally means incomplete fusion of the parts. Congenital malformations of the vertebrae and spinal cord are generally referred to as spinal dysraphisms. Proper identification of these complex anomalies is essential for correct patient management. Abnormalities occurring the embryonic period result in spinal dysraphisms. Although most congenital spinal malformations are present in the neonatal period, some (closed) may not be diagnosed until adulthood. Clinically, severe or open dysraphisms are easily detected. Severe dysraphisms, which also affect the development of the distal gastrointestinal and genitourinary systems and the lower extremities, are diagnosed quickly and may require urgent treatment to prevent complications. This review discusses embryology and classification for accurate reporting of congenital spinal malformations.
Keywords: Spinal malformation, spinal dysraphism, congenital
References
Tortori-Donati P, Rossi A, Cama A. Spinal dysraphism: a review of neuroradiological features with embryological correlations and proposal for a new classification.Neuroradiology. 2000; 42: 471-91.
Barkovich AJ. Pediatric Neuroimaging. Lippincott Williams & Wilkins. 2005, p. 801-68.
Rossi A, Biancheri R, Cama A, Piatelli G, Ravegnani M, Tortori-Donati P. Imaging in spine and spinal cord malformations.Eur J Radiol. 2004; 50: 177-200.
Guggisberg D, Hadj-Rabia S, Viney C, Bodemer C, Brunelle F, Zerah M, et al. Skin markers of occult spinal dysraphism in children: a review of 54 cases.Arch Dermatol. 2004; 140: 1109-15. Erratum in: Arch Dermatol. 2005; 141: 425.
Robinson AJ, Russell S, Rimmer S. The value of ultrasonic examination of the lumbar spine in infants with specific reference to cutaneous markers of occult spinal dysraphism.Clin Radiol. 2005; 60: 72-7.
Simon EM. MRI of the fetal spine.Pediatr Radiol. 2004; 34: 712-9.
Verity C, Firth H, ffrench-Constant C. Congenital abnormalities of the central nervous system. J Neurol Neurosurg Psychiatry. 2003; 74(Suppl 1): 3-8.
von Koch CS, Glenn OA, Goldstein RB, Barkovich AJ. Fetal magnetic resonance imaging enhances detection of spinal cord anomalies in patients with sonographically detected bony anomalies of the spine.J Ultrasound Med. 2005; 24: 781-9.
Sutton LN, Adzick NS. Fetal surgery for myelomeningocele.Clin Neurosurg. 2004; 51: 155-62.
Michelson DJ, Ashwal S. Tethered cord syndrome in childhood: diagnostic features and relationship to congenital anomalies.Neurol Res. 2004; 26: 745-53.
Oner AY, Uzun M, Tokgöz N, Tali ET. Isolated true anterior thoracic meningocele.AJNR Am J Neuroradiol. 2004; 25: 1828-30.
Massimi L, Calisti A, Koutzoglou M, Di Rocco C. Giant anterior sacral meningocele and posterior sagittal approach.Childs Nerv Syst. 2003; 19: 722-8.
Rjoub A, Daraghma M, Demaidi Y. Tight filum terminale. Congenital spine malformations. Springer, Cham; 2024.p.175-86.
Lee SM, Cheon JE, Choi YH, Kim IO, Kim WS, Cho HH, et al. Limited dorsal myeloschisis and congenital dermal sinus: comparison of clinical and MR imaging features.AJNR Am J Neuroradiol. 2017; 38: 176-82.
Rufener SL, Ibrahim M, Raybaud CA, Parmar HA. Congenital spine and spinal cord malformations--pictorial review.AJR Am J Roentgenol. 2010; 194(3 Suppl): 26-37.
Irani N, Goud AR, Lowe LH. Isolated filar cyst on lumbar spine sonography in infants: a case-control study.Pediatr Radiol. 2006; 36: 1283-8.
Aydin K, Sencer S, Barman A, Minareci O, Hepgul KT, Sencer A. Case report: spinal cord herniation into a mediastinal neurenteric cyst: CT and MRI findings.Br J Radiol. 2003; 76: 132-4.
Rauzzino MJ, Tubbs RS, Alexander E 3rd, Grabb PA, Oakes WJ. Spinal neurenteric cysts and their relation to more common aspects of occult spinal dysraphism.Neurosurg Focus. 2001; 10: e2.
Kumar R, Jain R, Rao KM, Hussain N. Intraspinal neurenteric cysts--report of three paediatric cases.Childs Nerv Syst. 2001; 17: 584-8.
Dias MS, Pang D. Split cord malformations.Neurosurg Clin N Am. 1995; 6: 339-58.
Kanev PM, Park TS. Dermoids and dermal sinus tracts of the spine.Neurosurg Clin N Am. 1995; 6: 359-66.
Jindal A, Mahapatra AK. Spinal congenital dermal sinus: an experience of 23 cases over 7 years.Neurol India. 2001; 49: 243-6.
Shen WC, Chiou TL, Lin TY. Dermal sinus with dermoid cyst in the upper cervical spine: case note.Neuroradiology. 2000; 42: 51-3.
Lai SW, Chan WP, Chen CY, Chien JC, Chu JS, Chiu WT. MRI of epidermoid cyst of the conus medullaris.Spinal Cord. 2005; 43: 320-3.
Castillo M, Smith MM, Armao D. Midline spinal cord hamartomas: MR imaging features of two patients.AJNR Am J Neuroradiol. 1999; 20: 1169-71.
Teksam M, Casey SO, Michel E, Benson M, Truwit CL. Intraspinal epidermoid cyst: diffusion-weighted MRI.Neuroradiology. 2001; 43: 572-4.
Kikuchi K, Miki H, Nakagawa A. The utility of diffusion-weighted imaging with navigator-echo technique for the diagnosis of spinal epidermoid cysts.AJNR Am J Neuroradiol. 2000; 21: 1164-6.
Tuladhar R, Patole SK, Whitehall JS. Sacrococcygeal teratoma in the perinatal period.Postgrad Med J. 2000; 76: 754-9.
Lahdenne P, Heikinheimo M, Jääskeläinen J, Merikanto J, Heikkilä J, Siimes MA. Vertebral abnormalities associated with congenital sacrococcygeal teratomas.J Pediatr Orthop. 1991; 11: 603-7.
Keslar PJ, Buck JL, Suarez ES. Germ cell tumors of the sacrococcygeal region: radiologic-pathologic correlation.Radiographics. 1994; 14: 607-22.
Valenzano M, Paoletti R, Rossi A, Farinini D, Garlaschi G, Fulcheri E. Sirenomelia. Pathological features, antenatal ultrasonographic clues, and a review of current embryogenic theories.Hum Reprod Update. 1999; 5: 82-6.
Nievelstein RA, Valk J, Smit LM, Vermeij-Keers C. MR of the caudal regression syndrome: embryologic implications.AJNR Am J Neuroradiol. 1994; 15: 1021-9.
Bohring A, Lewin SO, Reynolds JF, Voigtländer T, Rittinger O, Carey JC, et al. Polytopic anomalies with agenesis of the lower vertebral column.Am J Med Genet. 1999; 87: 99-114.
Tortori-Donati P, Fondelli MP, Rossi A, Raybaud CA, Cama A, Capra V. Segmental spinal dysgenesis: neuroradiologic findings with clinical and embryologic correlation.AJNR Am J Neuroradiol. 1999; 20: 445-56.
