Split notochord syndrome

Philippe Jeanty, MD, PhD

Synonyms:   None.

Definition: Cleft of the vertebral column (“butterfly vertebra”) associated with gastrointestinal tract and central nervous system anomalies. The cleft is usually in the thoracic or lumbar region.

Case report:  See case of the week #46

Prevalence:  Rare, probably less then 20 cases described. Only one case was discovered in an adult, all the others in newborns and young children[1].

Etiology:  Several etiological theories are discussed including the persistence of the neurenteric canal, the occurrence of an ectopic or accessory neurenteric canal, a division or local redundancy of the notochord, an entodermal-ectodermal adhesion, neural tube rupture caused by oversecretion of fluid, and failure or aberrancy of dorsal aortic distribution to the region of the neural folds resulting in prevention of timely neural tube closure[2]. A midline field defect is likely.

Pathogenesis:   Failure of fusion of the lateral ossifications centers of the vertebral bodies (the cartilaginous hemicentra) and interposition of disc-like material with various degrees of connection of the spinal cord and gastrointestinal system[3]. The defect appears before the embryo is 63 mm. The terminal, dorsal part of the enteric fistula, which is produced between the endoderm and the ectoderm through a partially duplicated notochord in the development of the embryo, remains after obliteration of the fistula and, consequently, the mucosa of the enteric remnant is inverted and projects through the skin of the back[4].

Sonographic findings: Depend on the form of the lesion (see below the associated anomalies), but abdomino-thoracic cysts, spina bifida and meningoceles are likely findings.

Differential diagnosis:   Depending on the location the lesion may resemble:

  • a giant cystic adenomatoid tumor
  • a lung cyst
  • a gastrointestinal duplication
  • a pyloric atresia
  • a neurenteric cyst
  • OEIS syndrome11
  • a fetiform teratoma8
  • fetus-in-fetu
  • conjoined twins
  • caudal duplication
  • meningomyelocele
  • spina bifida

Associated anomalies:   include1,2,[5],[6],[7],[8],[9],[10],[11],[12],[13],[14],[15],[16],[17],[18]:

·        Central nervous system

o       meningocele


o       masses that contain gastrointestinal elements (stomach, duodenum, jejunum, ileum and colon, covered by a peritoneal membrane, open ended duplication of the cecum attached to the end of the spinal cord…)

o       neurenteric cysts

o       duplicated spine or spinal canal sometimes with duplicated spinal cords

o       sacral agenesis

o       diplomyelia

o       neurological deficits to region below the cleft are common

·        Gastrointestinal

o       dorsal enteric fistula

o       dorsal enteric diverticulum

o       wandering spleen

o       imperforate anus

o       anterior displacement of the anus

o       foreshortened colon

o       colonic duplication

o       colonostomy (spontaneous opening of the colon or other level of the gastrointestinal tract)

o       omphalocele

o       duplication of the mouth, tongue, mandible

·        Genitourinary

o       penoscrotal transposition

o       bladder exstrophy

o       bladder duplication

o       urethral duplication

o       genital system duplication

·        Others

o       mature teratoma

o       intraabdominal leg in a saccular cecum

o       dorsal leg (including knee, ankle and digits)

o       club-feet

Prognosis:   Depends on the extend of the lesions and associated anomalies. A fatal outcome is most common.

Recurrence risk:  Unknown

Management: A few patients survive the repairs when only meningocele and posterior enteric fistula are present9,5,7,17.


[1] Kurisu A, Kawachi Y, Maruyama H, Kuwabara N Split notochord syndrome in an adult presenting with colonic duplication. Report of a case. Dis Colon Rectum 1992 Jan;35(1):78-81

[2] Kramer EL, Giacoia GP, Say B, Jarolim KL, Miller-Hardy D Split notochord syndrome with dorsal enteric fistula and sacral agenesis. Teratology 1988 Jul;38(1):1-5

[3] Muller F, O"Rahilly R, Benson DR The early origin of vertebral anomalies, as illustrated by a "butterfly vertebra". J Anat 1986 Dec;149:157-69

[4] Ebisu T, Odake G, Fujimoto M, Ueda S, Tsujii H, Morimoto M, Sawada T Neurenteric cysts with meningomyelocele or meningocele. Split notochord syndrome. Childs Nerv Syst 1990 Dec;6(8):465-7

[5] Dindar H, Kanmaz T, Cakmak M, Savas C, Yucesan S The split notochord syndrome with dorsal enteric fistula, meningomyelocele and imperforate anus. Turk J Pediatr 1999 Jan-Mar;41(1):147-50

[6] Akgur FM, Ozdemir T, Olguner M, Erbayraktar S, Ozer E, Aktug T A case of split notochord syndrome: presence of dorsal enteric diverticulum adjacent to the dorsal enteric fistula. J Pediatr Surg 1998 Aug;33(8):1317-9

[7] Kiristioglu I, Teitelbaum DH, Dogruyol H Split notochord syndrome with prolapsed congenital colostomy. J Pediatr Surg 1998 Mar;33(3):525-8

[8] Fowler CL Intraabdominal leg: unique variant of split notochord syndrome. J Pediatr Surg 1998 Mar;33(3):522-4

[9] Razack N, Page LK Split notochord syndrome: case report. Neurosurgery 1995 Nov;37(5):1006-8

[10] Baeza-Herrera C, Martinez-Aguilar G, Bravo-Becerra JM, Morales-Velazco F The split notochord syndrome. A report of 2 cases. Bol Med Hosp Infant Mex 1993 Nov;50(11):824-7

[11] Hoffman CH, Dietrich RB, Pais MJ, Demos DS, Pribram HF The split notochord syndrome with dorsal enteric fistula. AJNR Am J Neuroradiol 1993 May-Jun;14(3):622-7

[12] Bellagha I, Chaouachi B, Hammou A, Dhaoui R, Kaabar N, Aloulou T, Gharbi HA An exceptional combined malformation: duplication of the lower urinary tract, the vulva and the posterior intestine. Ann Urol (Paris) 1993;27(2):101-5

[13] Chou YH, Tiu CM, Pan HB, Yeh CJ, Wei CF, Chang TE Ultrasonographic demonstration of duplication cyst of the ileum. Chung Hua I Hsueh Tsa Chih (Taipei) 1990 Oct;46(4):237-9

[14] Chaouachi B, Ben Salah S, Trabelsi M, Maherzi A, Lakhoua R Duplication of mouth and mandible. Apropos of a case. Ann Pediatr (Paris) 1990 Mar;37(3):193-4

[15] Meller JL, Loeff DS, Reyes HM A variant of the split notochord syndrome. J Pediatr Surg 1989 Aug;24(8):733-5

[16] Pathak VB, Singh S, Wakhlu AK Double split of notochord with massive prolapse of the gut. J Pediatr Surg 1988 Nov;23(11):1039-40

[17] Gupta DK, Deodhar MC Split notochord syndrome presenting with meningomyelocoele and dorsal enteric fistula. J Pediatr Surg 1987 Apr;22(4):382-3

[18] Kheradpir MH, Ameri MR Dorsal herniation of the gut with posterior opening of the terminal colon: a rare manifestation of the split notochord syndrome. Z Kinderchir 1983 Jun;38(3):186-7

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