Skip to main content

Brain Developmental Malformations

Imaging Appearances

  • Living reference work entry
  • First Online:
  • 2736 Accesses

Abstract

The goal of this chapter is to review the most common congenital brain malformations encountered in clinical neuroradiology. Basic concepts of central nervous system embryology are discussed and facilitate understanding of brain developmental malformations. Many disorders will be first identified using ultrasonography during pregnancy but can be better depicted after birth using MRI. Familiarity with the classic neuroimaging findings of supra- and infratentorial congenital disorders is essential for accurate diagnosis. Congenital brain malformations include malformations of dorsal and ventral induction, which represent anomalies before and following neural tube closure. A malformation before neural tube closure results in catastrophic damage to the brain or congenital encephaloceles. The prototypical anomaly of ventral induction malformations is holoprosencephaly. A discussion of congenital malformations always includes corpus callosum anomalies evaluated best on sagittal midline images. Malformations of cerebral cortical development may include abnormalities of proliferation, migration, or cortical organization. There are several characteristic congenital abnormalities in the posterior fossa, and the discussion will include the Chiari malformations.

figure a

This publication is endorsed by: European Society of Neuroradiology (www.esnr.org).

This is a preview of subscription content, log in via an institution.

Abbreviations

CC:

Corpus callosum

CNS:

Central nervous system

CSF:

Cerebrospinal fluid

DTI:

Diffusion tensor imaging

FCD:

Focal cortical dysplasia

PVH:

Periventricular heterotopia

References

  • Abdel Razek AA, Kandell AY, Elsorogy LG, et al. Disorders of cortical formation: MR imaging features. Am J Neuroradiol. 2009;30:4–11.

    Article  CAS  Google Scholar 

  • Bosemani T, Orman G, Boltshauser E, Tekes A, et al. Congenital abnormalities of the posterior fossa. Radiographics. 2015;35:200–20.

    Article  Google Scholar 

  • Dias M, Partington M. Congenital brain and spinal cord malformations and their associated cutaneous markers. Pediatrics. 2015;136:e1105–19.

    Article  Google Scholar 

  • Kim C, Yeom KW, Iv M. Congenital brain malformations in the neonatal and early infancy period. Semin Ultrasound CT MR. 2015;36:97–119.

    Article  Google Scholar 

  • Nunez S, Mantilla MT, Bermudez S. Midline congenital malformations of the brain and skull. Neuroimaging Clin N Am. 2011;21:429–82, vii.

    Article  Google Scholar 

  • Poretti A, Huisman TA, Scheer I, et al. Joubert syndrome and related disorders: spectrum of neuroimaging findings in 75 patients. Am J Neuroradiol. 2011;32:1459–63.

    Article  CAS  Google Scholar 

  • Poretti A, Boltshauser E, Huisman TA. Congenital brain abnormalities: an update on malformations of cortical development and infratentorial malformations. Semin Neurol. 2014;34:239–48.

    Article  Google Scholar 

  • Raybaud C. The corpus callosum, the other great forebrain commissures, and the septum pellucidum: anatomy, development, and malformation. Neuroradiology. 2010;52:447–77.

    Article  Google Scholar 

  • Raybaud C, Widjaja E. Development and dysgenesis of the cerebral cortex: malformations of cortical development. Neuroimaging Clin N Am. 2011;21:483–543, vii.

    Article  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to Marinos Kontzialis .

Editor information

Editors and Affiliations

Section Editor information

Rights and permissions

Reprints and permissions

Copyright information

© 2019 Springer Nature Switzerland AG

About this entry

Check for updates. Verify currency and authenticity via CrossMark

Cite this entry

Kontzialis, M., Choudhri, A.F., Huisman, T.A.G.M. (2019). Brain Developmental Malformations. In: Barkhof, F., Jager, R., Thurnher, M., Rovira Cañellas, A. (eds) Clinical Neuroradiology. Springer, Cham. https://doi.org/10.1007/978-3-319-61423-6_29-2

Download citation

  • DOI: https://doi.org/10.1007/978-3-319-61423-6_29-2

  • Received:

  • Accepted:

  • Published:

  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-319-61423-6

  • Online ISBN: 978-3-319-61423-6

  • eBook Packages: Springer Reference MedicineReference Module Medicine

Publish with us

Policies and ethics