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Syndrome of anterior neural stalk, vertebral abnormality, enteric duplication cyst, and diaphragmatic hernia related to persistent ventral neurenteric canal: report of two cases

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Abstract

Purpose

Abnormalities in notochordal development can cause a range of developmental malformations, including the split notochord syndrome and split cord malformations. We describe two cases that appear related to unusual notochordal malformations, in a female and a male infant diagnosed in the early postnatal and prenatal periods, which were treated at our institution. These cases were unusual from prior cases given a shared constellation of an anterior cervicothoracic meningocele with a prominent “neural stalk,” which coursed ventrally from the spinal cord into the thorax in proximity to a foregut duplication cyst.

Methods

Two patients with this unusual spinal cord anomaly were assessed clinically, and with neuroimaging and genetics studies.

Results

We describe common anatomical features (anterior neural stalk arising from the spinal cord, vertebral abnormality, enteric duplication cyst, and diaphragmatic hernia) that support a common etiopathogenesis and distinguish these cases. In both cases, we opted for conservative neurosurgical management in regards to the spinal cord anomaly. We proposed a preliminary theory of the embryogenesis that explains these findings related to a persistence of the ventral portion of the neurenteric canal.

Conclusion

These cases may represent a form of spinal cord malformation due to a persistent neurenteric canal and affecting notochord development that has rarely been described. Over more than 1 year of follow-up while managed conservatively, there was no evidence of neurologic dysfunction, so far supporting a treatment strategy of observation.

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Data availability

Data sharing not applicable to this article as no datasets were generated or analysed during the current study.

Abbreviations

CT:

Computed tomography

LDM:

Limited dorsal myeloschisis

MRI:

Magnetic resonance imaging

SCM:

Split cord malformation

References

  1. Pang D, Dias MS, Ahab-Barmada M (1992) Split cord malformation: Part I: A unified theory of embryogenesis for double spinal cord malformations. Neurosurgery 31:451–480

    Article  CAS  PubMed  Google Scholar 

  2. Rulle A, Tsikolia N, de Bakker B, Drummer C, Behr R, Viebahn C (2018) On the enigma of the human neurenteric canal. Cells Tissues Organs 205:256–278

    Article  PubMed  Google Scholar 

  3. Mathkour M, Scullen T, Huang B, Werner C, Gouveia EE, Abou-Al-Shaar H, Maulucci CM, Steiner RB, St. Hilaire H, Bui CJ (2021) Multistage surgical repair for split notochord syndrome with neuroenteric fistula: case report. J Neurosurg Pediatr 27:151–159

    Article  Google Scholar 

  4. Bentley JF, Smith JR (1960) Developmental posterior enteric remnants and spinal malformations: the split notochord syndrome. Arch Dis Child 35:76–86

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  5. Ye DH, Kim DY, Ko EJ (2022) An unusual case of torticollis: split cord malformation with vertebral fusion anomaly: a case report and a review of the literature. Children 9:1085

    Article  PubMed  PubMed Central  Google Scholar 

  6. Sarnat HB, Flores-Sarnat L, Pinter JD (2011) Chapter 4, Neuroembryology. In: Winn HR (ed) Youmans neurological surgery, 6th edn. Saunders/Elsevier, Philadelphia, PA, pp 78–97

  7. Chaurasia BD, Runwal PM, Dharker RS (1975) Evidence for normal cum accessory neurenteric canals in a human fetus. Acta Anat (Basel) 93:574–579

    Article  CAS  PubMed  Google Scholar 

  8. Pang D, Zovickian J, Oviedo A, Moes GS (2010) Limited dorsal myeloschisis: a distinctive clinicopathological entity. Neurosurgery 67:1555–1580

    Article  PubMed  Google Scholar 

  9. Rossi A, Piatelli G, Gandolfo C, Pavanello M, Hoffmann C, Van Goethem JW, Cama A, Tortori-Donati P (2006) Spectrum of nonterminal myelocystoceles. Neurosurgery 58:509–515

    Article  PubMed  Google Scholar 

  10. Santos de Oliveira R, Cinalli G, Roujeau T, Sainte-Rose C, Pierre-Kahn A, Zerah M (2005) Neurenteric cysts in children: 16 consecutive cases and review of the literature. J Neurosurg Pediatr 103:512–523

    Article  Google Scholar 

  11. Proctor MR, Scott RM (2001) Long-term outcome for patients with split cord malformation. Neurosurg Focus 10(1):e5

    Article  CAS  PubMed  Google Scholar 

  12. Pang D, Zovickian J, Wong S-T, Hou YJ, Moes GS (2013) Limited dorsal myeloschisis: a not-so-rare form of primary neurulation defect. Childs Nerv Syst 29:1459–1484

    Article  PubMed  Google Scholar 

Download references

Acknowledgements

We acknowledge foremost our patients and their families to who this work is dedicated; the Neonatal ICU, General Surgery, Neuroradiology, Medical Genetics, and Orthopedic Surgery services at the Boston Children’s Hospital who have been our collaborators in the care of these patients. Dr. Saibaba Guggilapu, MBBS, Bangalore Medical College and Research Institute, assisted with the illustration of Fig. 4.

Funding

This work was supported by a fellowship grant to JAC from National Institute on Aging, 5 T32 AG 23480-17.

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Authors and Affiliations

  1. Department of Neurosurgery, Boston Children’s Hospital, Boston, USA

    Jason A. Chen, Joshua D. Bernstock, Walid Ibn Essayed, Mark Proctor & Benjamin C. Warf

  2. Department of Neurosurgery, Brigham and Women’s Hospital, Boston, USA

    Jason A. Chen, Joshua D. Bernstock & Walid Ibn Essayed

  3. Department of Surgery, Boston Children’s Hospital, Boston, USA

    Woo Do & Farokh R. Demehri

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  1. Jason A. Chen
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Contributions

All authors contributed to the study conception and design. Data collection and analysis were performed by JAC, FD, and BCW. The first draft of the manuscript was written by JAC and all authors commented on previous versions of the manuscript. All authors read and approved the final manuscript.

Corresponding author

Correspondence to Benjamin C. Warf.

Ethics declarations

Consent for publication

The participants (patients’ parents) consented to the submission of the case report to the journal.

Conflict of interest

We declare no competing interests. However we make the following disclosures: JAC is a founder and holds an equity stake in Verge Genomics, and holds an equity stake in Gravity Medical Technology. JDB has an equity position in Treovir Inc. and is a member of the board of scientific advisors for Upfront Diagnostics, Centile Biosciences, and NeuroX1. The remaining authors have no pertinent conflicts of interest to declare.

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Chen, J.A., Bernstock, J.D., Essayed, W.I. et al. Syndrome of anterior neural stalk, vertebral abnormality, enteric duplication cyst, and diaphragmatic hernia related to persistent ventral neurenteric canal: report of two cases. Childs Nerv Syst 39, 3341–3348 (2023). https://doi.org/10.1007/s00381-023-06169-8

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  • DOI: https://doi.org/10.1007/s00381-023-06169-8

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