Atypical caudal regression syndrome with agenesis of lumbar spine and presence of sacrum - case report and literature review

J Spinal Cord Med. 2018 Jul;41(4):496-500. doi: 10.1080/10790268.2017.1369211. Epub 2017 Sep 6.

Abstract

Context: Caudal regression syndrome is a rare disorder, not well described in the literature.

Findings: Authors treated two patients with congenital absence of thoracolumbar vertebrae and lower limbs paraplegia. Patients had hypoplasia of the lower trunk and extremities with motion between upper and lower torso. Imaging showed caudal spine agenesis, but cleft sacrum was present. Due to severe kyphotic deformity and spinal instability, deformity correction and posterior fusion was performed at the age 6 and 8. Finally, fusion was achieved in one case and stable but non-fusion kyphotic posture was observed in second.

Conclusion: surgery in caudal regression syndrome is challenging and bears high risk of complications.

Keywords: Caudal regression syndrome; Congenital spinal defect; Lower limb paraplegia; Spinal agenesis; Spine surgery.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Abnormalities, Multiple / diagnosis*
  • Child
  • Female
  • Humans
  • Lumbosacral Region / abnormalities*
  • Male
  • Meningocele / diagnosis*
  • Sacrococcygeal Region / abnormalities*
  • Syndrome

Supplementary concepts

  • Sacral defect and anterior sacral meningocele