A journey through formation and malformations of the neo-cortex

  • Anjuna Reghunath
  • Rohini Gupta GhasiEmail author
Review Article



Malformations of cortical development (MCD) are a heterogeneous group of disorders characterized by abnormal structure of the cerebral cortex. MCDs are an important cause of development delay and intractable epilepsy in children. In this review, we explore the embryological stages of development of neo-cortex, the imageology of various malformations which may occur during the journey of this development, the recent advances in imaging techniques used for diagnosing these malformations, and finally a simplified radiological approach to malformations of cortical development.


We discuss the classification of MCD according to the embryologic stage of cerebral cortex at which the abnormality occurred and the unique imaging features of various malformations, including microcephaly, hemimegalencephaly, lissencephaly, focal cortical dysplasia, heterotopias, polymicrogyria, schizencephaly, and neonatal CMV infection. Also, a rare variant of hemimegalencephaly, namely posterior quadrantic dysplasia, is illustrated; the diagnosis of which is crucial for neurosurgeons to decide management. The technological advancement in the imaging of MCD has taken a leap in the recent years. Imaging now also plays an enormous role in mapping of the abnormalities, delineation of proper surgical boundaries, and quantifying risks of visual, language, and sensorimotor dysfunction. With the introduction of various motor-sparing surgeries and disconnection procedures, proper identification and delineation of these malformations have gained utmost significance.


Knowledge of the wide imaging spectrum of MCD, familiarity with recent advances in imaging and an optimal radiological approach is essential for the general radiologist to accurately diagnose and prognosticate MCD as well as provide the best surgical approach to the operating surgeon.


Lissencephaly MCD Neonatal CMV 


Compliance with ethical standards

Conflict of interest

The authors have no conflict of interests.


  1. 1.
    Abdel Razek AAK, Kandell AY, Elsorogy LG, Elmongy A, Basett AA (2009) Disorders of cortical formation: MR imaging features. Am J Neuroradiol 30:4–11CrossRefGoogle Scholar
  2. 2.
    Guerrini R, Dobyns WB (2014) Malformations of cortical development: clinical features and genetic causes. Lancet Neurol 13(7):710–726CrossRefGoogle Scholar
  3. 3.
    Raybaud C, Widjaja E (2011) Development and dysgenesis of the cerebral cortex: malformations of cortical development. Neuroimaging Clin N Am 21:483–543CrossRefGoogle Scholar
  4. 4.
    Barkovich AJ, Kuzhiecky RI, Dobyns WB et al (1996) A classification scheme for malformations and cortical development. Neuropediatrics 27:59–63CrossRefGoogle Scholar
  5. 5.
    Barkovich J, Gressens P, Evrard P (1992) Formation, maturation and disorders of brain neocortex. Am J Neuroradiol 13:423–446PubMedGoogle Scholar
  6. 6.
    Mohamed AR, Freeman JL, Maixner W, Bailey CA, Wrennall JA, Harvey AS (2011) Temporoparietooccipital disconnection in children with intractable epilepsy. J Neurosurg Pediatr 7:660–670CrossRefGoogle Scholar
  7. 7.
    Fitsiori A, Hiremath SB, Boto J, Garibotto M, Vargas MI (2019) Morphological and advanced imaging of epilepsy: beyond the basics. Children:43–67. CrossRefGoogle Scholar
  8. 8.
    Barkovich J, Raybaud C (2004) Neuroimaging in disorders of cortical development. Neuroimaging Clin N Am 14:231–254CrossRefGoogle Scholar
  9. 9.
    Sztriha L, Dawodu A, Gururaj A et al (2004) Microcephaly associated with abnormal gyral pattern. Neuropediatrics 35:346–352CrossRefGoogle Scholar
  10. 10.
    Sztriha L, Al-Gazali LI, Va’rady E et al (1999) Autosomal recessive micrencephaly with simplified gyral pattern, abnormal myelination and arthrogryposis. Neuropediatrics 30:141–145CrossRefGoogle Scholar
  11. 11.
    Broumandi D, Hayward U, Benzian J et al (2004) Hemimegalencephaly. Radiographics 24:843–848CrossRefGoogle Scholar
  12. 12.
    D’Agostino MD, Bastos A, Piras C, Bernasconi A, Grisar T, Tsur VG et al (2004) Posterior quadrantic dysplasia or hemi-hemimegalencephaly: a characteristic brain malformation. Neurology 62:2214–2220CrossRefGoogle Scholar
  13. 13.
    Vadapalli RMSV, Jayalakshmi SJ, Panigrahi M (2011) Unorthodox manifestations of cortical dysplasia: pictorial essay. ECR.
  14. 14.
    Yagishita A, Arai N, Maehara T et al (1997) Focal cortical dysplasia: appearance on MR images. Radiology 203:553–559CrossRefGoogle Scholar
  15. 15.
    Bronen RA, Vives KP, Kim JH et al (1997) Focal cortical dysplasia of Taylor, balloon cell subtype: MR differentiation from low-grade tumors. AmJ Neuroradiol 18:1141–1151Google Scholar
  16. 16.
    Barkovich J, Koch TK, Carol CL (1991) The spectrum of lissencephaly: report of ten patients analyzed by magnetic resonance imaging. Ann Neurol 30:139–146CrossRefGoogle Scholar
  17. 17.
    Fink KR, Thapa MM, Ishak GE, Pruthi S (2010) Neuroimaging of pediatric central nervous system cytomegalovirus infection. RadioGraphics 30:1779–1796CrossRefGoogle Scholar
  18. 18.
    Williams R, Swisher CN, Jennings M et al (1984) Cerebro-ocular dysgenesis (Walker-Walburg syndrome): neuropathologic and etiologic analysis. Neurology 34:1531–1541CrossRefGoogle Scholar
  19. 19.
    Santavuori P, Somer H, Sainio K et al (1989) Muscle-eye-brain disease (MEB). Brain Dev 11:147–153CrossRefGoogle Scholar
  20. 20.
    Aida N, Tamagawa K, Takada K, Yagishita A, Kobayashi N, Chikumaru K, Iwamoto H (1996) Brain MR in Fukuyama congenital muscular dystrophy. Am J Neuroradiol 17:605–613PubMedGoogle Scholar
  21. 21.
    Barkovich J, Kuzniecky R (2000) Grey matter heterotopia. Neurology 55:1603–1608CrossRefGoogle Scholar
  22. 22.
    Barkovich J, Kjos BO (1992) Gray matter heterotopias: MR characteristics and correlation with developmental and neurological manifestations. Radiology 182:493–499CrossRefGoogle Scholar
  23. 23.
    Barkovich J (1996) Subcortical heterotopia: a distinct clinicoradiologic entity. Am J Neuroradiol 17:1315–1322PubMedGoogle Scholar
  24. 24.
    Gallucci M, Bozzao A, Curatolo P, Splendiani A, Cifani A, Passariello R (1991) MR imaging of incomplete band heterotopia. Am J Neuroradiol 12:701–702PubMedGoogle Scholar
  25. 25.
    Kuzniecky RI, Andermann F (1994) The congenital bilateral perisylvian syndrome: imaging findings in a multicenter study—CBPS Study Group. Am J Neuroradiol 15:139–144PubMedGoogle Scholar
  26. 26.
    Guerrini R, Barkovich AJ, Sztriha L, Dobyns WB (2000) Bilateral frontal polymicrogyria: a newly recognized brain malformation syndrome. Neurology 54:909–913CrossRefGoogle Scholar
  27. 27.
    Chang BS, Piao X, Bodell A et al (2003) Bilateral frontoparietal polymicrogyria: clinical and radiological features in 10 families with linkage to chromosome 16. Ann Neurol 53:596–606CrossRefGoogle Scholar
  28. 28.
    Guerrini R, Dubeau F, Dulac O, Barkovich AJ, Kuzniecky R, Fett C, Jones-Gotman M, Canapicchi R, Cross H, Fish D, Bonanni P, Jambaqué I, Andermann F (1997) Bilateral parasagittal parietooccipital polymicrogyria and epilepsy. Ann Neurol 41:65–73CrossRefGoogle Scholar
  29. 29.
    Chang BS, Piao X, Giannini C et al (2004) Bilateral generalized polymicrogyria (BGP): a distinct syndrome of cortical malformation. Neurology 62:1722–1728CrossRefGoogle Scholar
  30. 30.
    Barkovich AJ, Kjos BO (1992) Schizencephaly: correlation of clinical findings with MR characteristics. Am J Neuroradiol 13:85–94PubMedGoogle Scholar
  31. 31.
    Andrade CS, da Costa Leite C (2011) Malformations of cortical development: current concepts and advanced neuroimaging review. Arq Neuropsiquiatr 69(1):130–138CrossRefGoogle Scholar
  32. 32.
    Dudink J, Pieterman K, Leemans A, Kleinnijenhuis M, van Cappellen van Walsum AM, Hoebeek FE (2015) Recent advancements in diffusion MRI for investigating cortical development after preterm birth-potential and pitfalls. Front Hum Neurosci 8:1066. CrossRefPubMedPubMedCentralGoogle Scholar
  33. 33.
    Battal B, Ince S, Akgun V, Kocaoglu M, Ozcan E, Tasar M (2015) Malformations of cortical development: 3T magnetic resonance imaging features. World J Radiol 7(10):329–335CrossRefGoogle Scholar

Copyright information

© Springer-Verlag GmbH Germany, part of Springer Nature 2019

Authors and Affiliations

  1. 1.Department of RadiodiagnosisVardhman Mahavir Medical College and Safdarjung HospitalNew DelhiIndia

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