Congenital and Hereditary Diseases of the Spinal Cord

Semin Ultrasound CT MR. 2017 Apr;38(2):105-125. doi: 10.1053/j.sult.2016.07.002. Epub 2016 Jul 14.

Abstract

Congenital anomalies of the spinal cord can pose a diagnostic dilemma to the radiologist. Several classification systems of these anomalies exist. Antenatal ultrasound and fetal magnetic resonance imaging is playing an increasingly important role in the early diagnosis and management of patients. Understanding the underlying anatomy as well as embryology of these disorders can be valuable in correctly identifying the type of spinal cord dysraphic defect. Hereditary spinal cord diseases are rare but can be devastating. When the onset is in adulthood, delay in diagnosis is common. Although the spine findings are nonspecific, some imaging features combined with brain imaging findings can be distinctive. Sometimes, the radiologist may be the first to raise the possibility of these disorders.

Publication types

  • Review

MeSH terms

  • Humans
  • Magnetic Resonance Imaging / methods*
  • Prenatal Diagnosis / methods*
  • Spinal Cord / diagnostic imaging
  • Spinal Cord / embryology
  • Spinal Cord Diseases / diagnostic imaging*
  • Spinal Cord Diseases / embryology*
  • Spinal Cord Diseases / genetics
  • Ultrasonography, Prenatal / methods