Caudal regression syndrome without maternal diabetes mellitus

BMJ Case Rep. 2023 Mar 23;16(3):e253136. doi: 10.1136/bcr-2022-253136.

Abstract

Caudal regression is a rare complex disorder impacting the formation of the caudal segment of the spine and spinal cord. We report a preterm newborn baby who was referred to us due to respiratory distress syndrome and bilateral knee contracture. A clinical examination and a radiographic skeletal survey revealed a short spinal cord with complete agenesis of the lumbar, sacrum and coccygeal spine, and hypoplastic iliac bones with bilateral knee contractures. The mother did not have diabetes. The long-term outcome is not well-known in our set-up.

Keywords: Congenital disorders; Disability; Paediatrics.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple*
  • Diabetes, Gestational*
  • Female
  • Humans
  • Infant, Newborn
  • Nervous System Malformations*
  • Pregnancy
  • Sacrum / diagnostic imaging
  • Spinal Cord
  • Spinal Diseases*