Closed neural tube defects in children with caudal regression

Childs Nerv Syst. 2013 Sep;29(9):1451-7. doi: 10.1007/s00381-013-2119-3. Epub 2013 Sep 7.


Introduction: Infants born with caudal regression (CR) may have serious multisystem abnormalities that require prompt attention in the neonatal period. The presence of a closed neural tube defect (NTD) that can lead to future neurological deterioration may be overlooked.

Materials and methods: An IRB-approved retrospective review was conducted among patients with CR and a closed NTD that underwent neurosurgical operative intervention between 1996 and 2012 at a single institution.

Results: Twenty-two patients who met the above criteria were identified. Of this group, 13 were identified and surgically addressed in the first year of life; however, nine additional children were diagnosed with a closed NTD after a year of age with progressive neurological deterioration. Of the entire group, none had any cutaneous markers that are often seen with a closed NTD.

Conclusion: The frequent finding of a closed NTD associated with major CR abnormalities, even in the absence of any cutaneous markers for dysraphism, recommends that infants with CR undergo a MRI screening in early infancy to exclude the presence of a closed NTD.

MeSH terms

  • Abnormalities, Multiple
  • Adolescent
  • Biomarkers / metabolism
  • Child
  • Child, Preschool
  • Female
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Meningocele / complications*
  • Neural Tube Defects / complications*
  • Neural Tube Defects / diagnosis*
  • Retrospective Studies
  • Sacrococcygeal Region / abnormalities*


  • Biomarkers

Supplementary concepts

  • Sacral defect and anterior sacral meningocele