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Unjoined primary and secondary neural tubes: junctional neural tube defect, a new form of spinal dysraphism caused by disturbance of junctional neurulation

  • A.J. RAIMONDI ISPN AWARD
  • Published:
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Abstract

Introduction

Primary and secondary neurulation are the two known processes that form the central neuraxis of vertebrates. Human phenotypes of neural tube defects (NTDs) mostly fall into two corresponding categories consistent with the two types of developmental sequence: primary NTD features an open skin defect, an exposed, unclosed neural plate (hence an open neural tube defect, or ONTD), and an unformed or poorly formed secondary neural tube, and secondary NTD with no skin abnormality (hence a closed NTD) and a malformed conus caudal to a well-developed primary neural tube.

Methods and results

We encountered three cases of a previously unrecorded form of spinal dysraphism in which the primary and secondary neural tubes are individually formed but are physically separated far apart and functionally disconnected from each other. One patient was operated on, in whom both the lumbosacral spinal cord from primary neurulation and the conus from secondary neurulation are each anatomically complete and endowed with functioning segmental motor roots tested by intraoperative triggered electromyography and direct spinal cord stimulation. The remarkable feature is that the two neural tubes are unjoined except by a functionally inert, probably non-neural band.

Conclusion

The developmental error of this peculiar malformation probably occurs during the critical transition between the end of primary and the beginning of secondary neurulation, in a stage aptly called junctional neurulation. We describe the current knowledge concerning junctional neurulation and speculate on the embryogenesis of this new class of spinal dysraphism, which we call junctional neural tube defect.

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Abbreviations

BCR:

Bulbocavernous reflex

CIC:

Clean intermittent catheterization

CM:

Conus medullaris

EMG:

Electromyography

HH:

Hamburger-Hamilton

LDM:

Limited dorsal myeloschisis

mA:

Milliampere

MAC:

Minimum alveolar concentration

MET:

Mesenchyme-epithelial transition

MRI:

Magnetic resonance imaging

NSB:

Node streak border

NT:

Neural tube

NTD:

Neural tube defect

ONTD:

Open neural tube defect

RMC:

Retained medullary cord

siRNA:

Small interfering RNA

SSEP:

Somatosensory evoked potential

TcMEP:

Transcortical motor evoked potentials

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Author information

Authors and Affiliations

  1. Paediatric Neurosurgery, Regional Centre of Paediatric Neurosurgery, Kaiser Foundation Hospitals of Northern California, Oakland, CA, USA

    Sebastian Eibach & John Zovickian

  2. Paediatric Neurosurgery, Altona Children’s Hospital, Hamburg, Germany

    Sebastian Eibach

  3. Neuropathology, Regional Centre of Paediatric Neurosurgery, Kaiser Foundation Hospitals of Northern California, Oakland, CA, USA

    Greg Moes

  4. Adjunct Faculty of Neuropathology, Stanford University School of Medicine, Stanford, CA, USA

    Greg Moes

  5. Intraoperative Neurophysiology, Regional Centre of Paediatric Neurosurgery, Kaiser Foundation Hospitals of Northern California, Oakland, CA, USA

    Yong Jin Hou

  6. Regional Centre of Paediatric Neurosurgery, Kaiser Foundation Hospitals of Northern California, Oakland, CA, USA

    Dachling Pang

  7. Paediatric Neurosurgery, University of California, Davis, CA, USA

    Dachling Pang

  8. Great Ormond Street Hospital for Children, NHS Trust, London, UK

    Dachling Pang

  9. Department of Paediatric Neurosurgery, Kaiser Permanente Medical Centre, Third Floor, Suite 39, 3600 Broadway, Oakland, CA, 94611, USA

    Dachling Pang

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  1. Sebastian Eibach
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  2. Greg Moes
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  3. Yong Jin Hou
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  5. Dachling Pang
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Correspondence to Dachling Pang.

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Eibach, S., Moes, G., Hou, Y.J. et al. Unjoined primary and secondary neural tubes: junctional neural tube defect, a new form of spinal dysraphism caused by disturbance of junctional neurulation. Childs Nerv Syst 33, 1633–1647 (2017). https://doi.org/10.1007/s00381-016-3288-7

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  • DOI: https://doi.org/10.1007/s00381-016-3288-7

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