Skip to main content

Congenital Brain Malformations and Hydrocephalus

  • Reference work entry
Textbook of Clinical Pediatrics
  • 222 Accesses

Classification

This chapter arranges cortical malformations according to the earliest embryological stage in which the abnormality has its origin. Yet, this is an artificial distinction since the stages of cortical development overlap in time and lack discrete boundaries. Moreover, some gene defects exert influence in more than one developmental stage. Thus, the classification system presented here will undoubtedly be modified as understanding of these conditions evolves.

Overview of Embryology

The brain and spinal cord form from the dorsal aspect of the embryo in the third and fourth weeks of gestation through neurulation, the process of neural tube formation. In the fifth and sixth weeks, prosencephalic development, the process by which the brain takes shape, begins. Cortical formation in humans spans weeks 8–24 of gestation and can be divided into stages of cell proliferation (both neural and glial precursor cells are formed), neuronal migration (cells travel to their designated...

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

Access this chapter

Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 999.99
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Hardcover Book
USD 1,299.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

References

  • Barkovich AJ, Kjos BO (1992a) Nonlissencephalic cortical dysplasias: correlation of imaging findings with clinical deficits. AJNR Am J Neuroradiol 13:104–106

    Google Scholar 

  • Barkovich AJ, Kjos BO (1992b) Schizencephaly: correlation of clinical findings with MR characteristics. AJNR Am J Neuroradiol 13:104–106

    Google Scholar 

  • Barkovich AJ, Kuzniecky RI, Dobyns WB, Jackson GD, Becker LE, Evrard P (1996) A classification scheme for malformations of cortical development. Neuropediatrics 27:59–63

    Article  PubMed  CAS  Google Scholar 

  • Barkovich AJ, Kuzniecky RI, Jackson GD, Guerrini R, Dobyns WB (2001) Classification system for malformations of cortical development. Neurology 57:2168–2178

    Article  PubMed  CAS  Google Scholar 

  • Cardoso C, Leventer RJ, Ward HL et al (2003) Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller–Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3. Am J Hum Genet 72:918–930

    Article  PubMed  CAS  Google Scholar 

  • Franz DN, Leonard J, Tudor C, Chuck G, Care M, Sethuraman G, Dinopoulos A, Thomas G, Crone KR (2006) Rapamycin causes regression of astrocytomas in tuberous sclerosis complex. Ann Neurol 59:490–498

    Article  PubMed  CAS  Google Scholar 

  • Inoki K, Corradetti MN, Guan KL (2005) Dysregulation of the TSC-mTOR pathway in human disease. Nat Genet 37:19–24

    Article  PubMed  CAS  Google Scholar 

  • Smahi A, Courtois G, Vabres P et al (2000) Genomic rearrangement in NEMO impairs NF- kappaB activation and is a cause of incontinentia pigmenti. The international incontinentia pigmenti (ip) consortium. Nature 405:466–472

    Article  PubMed  CAS  Google Scholar 

  • Tassi L, Colombo N, Garbelli R et al (2002) Focal cortical dysplasia: neuropathological subtypes, EEG, neuroimaging and surgical outcome. Brain 125:1719–1732

    Article  PubMed  CAS  Google Scholar 

  • Taylor DC, Falconer MA, Bruton CJ, Corsellis JAN (1971) Focal dysplasia of the cerebral cortex in epilepsy. J Neurol Neurosurg Psychiatry 34:369–387

    Article  PubMed  CAS  Google Scholar 

  • Toda T, Kobayashi K, Kondo-Iida E, Sasaki J, Nakamura Y (2000) The Fukuyama congenital muscular dystrophy story. Neuromuscul Disord 10:153–159

    Article  PubMed  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to John N. Gaitanis M.D. .

Editor information

Editors and Affiliations

Rights and permissions

Reprints and permissions

Copyright information

© 2012 Springer-Verlag Berlin Heidelberg

About this entry

Cite this entry

Gaitanis, J.N. (2012). Congenital Brain Malformations and Hydrocephalus. In: Elzouki, A.Y., Harfi, H.A., Nazer, H.M., Stapleton, F.B., Oh, W., Whitley, R.J. (eds) Textbook of Clinical Pediatrics. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-02202-9_359

Download citation

  • DOI: https://doi.org/10.1007/978-3-642-02202-9_359

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-642-02201-2

  • Online ISBN: 978-3-642-02202-9

  • eBook Packages: MedicineReference Module Medicine

Publish with us

Policies and ethics