Congenital malformations of the brain and spine

Handb Clin Neurol. 2016:136:1121-37. doi: 10.1016/B978-0-444-53486-6.00058-2.

Abstract

In this chapter we briefly address the most common congenital brain and spinal anomalies as well as their most salient imaging, especially magnetic resonance, findings. Some of them, such as Chiari II, and open spinal defects, have become relatively rare due to their detection in utero and repair of the spinal malformation. Regardless of the type of brain anomaly, the most common clinical symptoms are mental retardation, hydrocephalus, and seizure; the latter two may need to be surgically and medically addressed. The most commonly found spinal congenital anomalies include the filum terminale lipoma which is generally asymptomatic and incidental and the caudal regression syndrome for which no primary treatment exists. Any spinal congenital anomaly may present in adulthood as a consequence of spinal cord tethering and/or development of syringomyelia.

Keywords: Chiari malformations; Dandy–Walker malformations; caudal regression syndrome; closed neural tube defects; congenital brain anomalies; congenital spine anomalies; hydrocephalus; neuronal migration anomalies; open neural tube defects; spinal lipoma.

MeSH terms

  • Brain / pathology*
  • Humans
  • Nervous System Malformations / pathology*
  • Spine / pathology*