Skip to main content
SpringerLink
Log in

Malformations of Cortical Development

  • Chapter
MRI in Epilepsy

Part of the book series: Medical Radiology ((Med Radiol Diagn Imaging))

  • 3414 Accesses

Abstract

Malformations of cortical development are arranged in different ways. Recently, the ILAE published a consensus classification incorporating pathological, imaging, and genetic findings (Blümcke et al. 2011). Some lesions (namely FCD 2B) from this classification are clearly visible on MRI and pathologically classified with a high concordance between different pathologists. If they are fully resected, seizure freedom rate is > 80 %. Other lesions (namely FCD 1) are more difficult to detect or “unvisible” even with voxel-based MRI analyses and harbored with a high interrater-variability between different pathologists. Chance of postsurgical seizure freedom is distinctly < 50 %. A patient will likely benefit from surgery if a distinct MRI lesion is found underlining the importance of high-quality MRI acquisition and interpretation.

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

Access this chapter

Log in via an institution
Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 109.00
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 139.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info
Hardcover Book
USD 199.99
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

Similar content being viewed by others

References

  • Adachi Y, Poduri A, Kawaguch A, Yoon G, Salih MA, Yamashita F, Walsh CA, Barkovich AJ (2011) Congenital microcephaly with a simplified gyral pattern: associated findings and their significance. AJNR Am J Neuroradiol 32(6):1123–1129

    Article  PubMed  CAS  Google Scholar 

  • Adamsbaum C, Robain O, Cohen PA, Delalande O, Fohlen M, Kalifa G (1998) Focal cortical dysplasia and hemimegalencephaly: histological and neuroimaging correlations. Pediatr Radiol 28(8):583–590

    Article  PubMed  CAS  Google Scholar 

  • Aicardi J, Lefebvre J, Leriqu-Koechlin A (1965) A new syndrome: spasm in flexion, callosal agenesis, ocular abnormalities. Electroencephalogr Clin Neurophysiol 19:609–610

    Google Scholar 

  • Ashwal S, Michelson D, Plawner L (2009) Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society. Practice parameter: evaluation of the child with microcephaly (an evidence-based review): report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society. Neurology 73(11):887–897

    Article  PubMed  Google Scholar 

  • Barkovich AJ, Fram EK, Norman D (1989) Septo-optic dysplasia. MR Imaging. Radiology 171:189–192

    PubMed  CAS  Google Scholar 

  • Barkovich AJ, Chuang SH (1990) Unilateral megalencephaly: correlation of MR imaging and pathologic characteristics. AJNR Am J Neuroradiol 11:523–531

    PubMed  CAS  Google Scholar 

  • Barkovich AJ, Quint DJ (1993) Middle interhemispheric fusion: an unusual variant of holoprosencephaly. AJNR Am J Neuroradiol 14(2):431–440

    Google Scholar 

  • Barkovich AJ, Guerrini R, Battaglia G, Kalifa G, N’Guyen T, Parmeggiani A, Santucci M, Giovanardi-Rossi P, Granata T, D’Incerti L (1994) Band heterotopia: correlation of outcome with magnetic resonance imaging parameters. Ann Neurol 36:609–617

    Article  PubMed  CAS  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, Bollen AW, Grant PE (1997) Focal transmantle dysplasia: a specific malformation of cortical development. Neurology 49(4):1148–1152

    Article  PubMed  CAS  Google Scholar 

  • Barkovich AJ, Ferriero DM, Barr RM, Gressens P, Dobyns WB, Truwit CL, Evrard P (1998) Microlissencephaly: a heterogeneous malformation of cortical development. Neuropediatrics 29:113–119

    Article  PubMed  CAS  Google Scholar 

  • Barkovich AJ (2000) Morphologic characteristics of subcortical heterotopia: MR imaging study. AJNR Am J Neuroradiol 21:290–295

    PubMed  CAS  Google Scholar 

  • Barkovich AJ, Kuzniecky RI (2000) Gray matter heterotopia. Neurology 55:1603–1608

    Article  PubMed  CAS  Google Scholar 

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

    Article  PubMed  CAS  Google Scholar 

  • Barkovich AJ (2002) Morphological features and associated anomalies of schizencephaly in the clinical population: detailed analysis of MR images. Neuroradiology 44:647–655

    Article  PubMed  Google Scholar 

  • Barkovich AJ, Kuzniecky RI, Jackson GD, Guerrini R, Dobyns WB (2005) A developmental and genetic classification for malformations of cortical development. Neurology 65:1873–1887

    Article  PubMed  CAS  Google Scholar 

  • Barkovich AJ (2010) Current concepts of polymicrogyria. Neuroradiology 52:479–487

    Article  PubMed  Google Scholar 

  • Barkovich AJ, Guerrini R, Kuzniecky RI, Jackson GD, Dobyns WB (2012) A developmental and genetic classification for malformations of cortical development: update 2012. Brain 135:1348–1369

    Article  PubMed  Google Scholar 

  • Becker AJ, Urbach H, Scheffler B, Baden T, Normann S, Lahl L, Pannek H, Tuxhorn I, Elger CE, Schramm J, Wiestler OD, Blümcke I (2002) Focal cortical dysplasia of Taylor’s balloon cell type: mutational analysis of the TSC1 gene indicates a pathogenic relationship to tuberous sclerosis. Ann Neurol 52:29–37

    Article  PubMed  CAS  Google Scholar 

  • Besson P, Andermann F, Dubeau F, Bernasconi A (2008) Small focal cortical dysplasia lesions are located at the bottom of a deep sulcus. Brain 131:3246–3255

    Article  PubMed  Google Scholar 

  • Blümcke I, Thom M, Aronica E, Armstrong DD, Vinters HV, Palmini A, Jacques TS, Avanzini G, Barkovich AJ, Battaglia G, Becker A, Cepeda C, Cendes F, Colombo N, Crino P, Cross JH, Delalande O, Dubeau F, Duncan J, Guerrini R, Kahane P, Mathern G, Najm I, Ozkara C, Raybaud C, Represa A, Roper SN, Salamon N, Schulze-Bonhage A, Tassi L, Vezzani A, Spreafico R (2011) The clinicopathologic spectrum of focal cortical dysplasias: a consensus classification proposed by an ad hoc Task Force of the ILAE Diagnostic Methods Commission. Epilepsia 52:158–174

    Article  PubMed  Google Scholar 

  • Bond J, Roberts E, Mochida GH, Hampshire DJ, Scott S, Askham JM, Springell K, Mahadevan M, Crow YJ, Markham AF, Walsh CA, Woods CG (2002) ASPM is a major determinant of cerebral cortical size. Nat Genet 32:316–320

    Article  PubMed  CAS  Google Scholar 

  • Bond J, Scott S, Hampshire DJ, Springell K, Corry P, Abramowicz MJ, Mochida GH, Hennekam RC, Maher ER, Fryns JP, Alswaid A, Jafri H, Rashid Y, Mubaidin A, Walsh CA, Roberts E, Woods CG (2003) Protein-truncating mutations in ASPM cause variable reduction in brain size. Am J Hum Genet 73:1170–1177

    Article  PubMed  CAS  Google Scholar 

  • Bond J, Roberts E, Springell K, Lizarraga SB, Scott S, Higgins J, Hampshire DJ, Morrison EE, Leal GF, Silva EO, Costa SM, Baralle D, Raponi M, Karbani G, Rashid Y, Jafri H, Bennett C, Corry P, Walsh CA, Woods CG (2005) A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size. Nat Genet 37:353–355

    Article  PubMed  CAS  Google Scholar 

  • Broumandi DD, Hayward UM, Benzian JM, Gonzalez I, Nelson MD (2004) Best cases from the AFIP: hemimegalencephaly. Radiographics 24(3):843–848

    Article  PubMed  Google Scholar 

  • Camino R, Arjona A (2003) Septo-optic dysplasia plus. Lancet Neurol 2:436

    Article  PubMed  Google Scholar 

  • Cepeda C, Hurst RS, Flores-Hernández J, Hernández-Echeagaray E, Klapstein GJ, Boylan MK, Calvert CR, Jocoy EL, Nguyen OK, André VM, Vinters HV, Ariano MA, Levine MS, Mathern GW (2003) Morphological and electrophysiological characterization of abnormal cell types in pediatric cortical dysplasia. J Neurosci Res 72(4):472–486

    Article  PubMed  CAS  Google Scholar 

  • Chamberlain WA, Cohen ML, Gyure KA, Kleinschmidt-DeMasters BK, Perry A, Powell SZ, Qian J, Staugaitis SM, Prayson RA (2009) Interobserver and intraobserver reproducibility in focal cortical dysplasia (malformations of cortical development). Epilepsia 50:2593–2598

    Article  PubMed  Google Scholar 

  • Chang BS, Aspe KA, Caraballo A, Cross JH, Mclellan A, Jacobson RD, Valente KD, Barkovich AJ, Walsh CA (2006) A familiar syndrome of unilateral polymicrogyria affecting the right hemisphere. Neurology 66:133–135

    Article  PubMed  CAS  Google Scholar 

  • Chang EF, Wang DD, Barkovich AJ, Tihan T, Auguste KI, Sullivan JE, Garcia PA, Barbaro NM (2011) Predictors of seizure freedom after surgery for malformations of cortical development. Ann Neurol 70(1):151–162

    Article  PubMed  Google Scholar 

  • Clement E, Mercuri E, Godfrey C, Smith J, Robb S, Kinali M, Straub V, Bushby K, Manzur A, Talim B, Cowan F, Quinlivan R, Klein A, Longman C, McWilliam R, Topaloglu H, Mein R, Abbs S, North K, Barkovich AJ, Rutherford M, Muntoni F (2008) Brain involvement in muscular dystrophies with defective dystroglycan glycosylation. Ann Neurol 64(5):573–582

    Article  PubMed  CAS  Google Scholar 

  • de Morsier G (1956) Etudes sum les dysraphies cranio-encephaliques. III. Agenesie du septum lucidum avec malformation du tractus optique: Ia dysplasie septo-optique. Schweiz Arch Neurol Psychiatr 77:267–292

    Google Scholar 

  • DeMyer W, Zeman W, Palmer GG (1964) The face predicts the brain. Diagnostic significance of median facial anomalies for holoprosencephaly (arhinencephaly). Pediatrics 34:256–263

    PubMed  CAS  Google Scholar 

  • Dixon-Salazar T, Silhavy JL, Marsh SE, Louie CM, Scott LC, Gururaj A, Al-Gazali L, Al-Tawari AA, Kayserili H, Sztriha L, Gleeson JG (2004) Mutations in the AHI1 gene encoding jouberin cause Joubert syndrome with cortical polymicrogyria. Am J Hum Genet 75:979–987

    Article  PubMed  CAS  Google Scholar 

  • Dobyns WB (2010) The clinical patterns and molecular genetics of lissencephaly and subcortical band heterotopia. Epilepsia 51(Suppl. 1):5–9

    Article  PubMed  Google Scholar 

  • Dobyns WB, Barkovich AJ (1999) Microcephaly with simplified gyral pattern (oligogyric microcephaly) and microlissencephaly. Neuropediatrics 30:105–106

    Article  Google Scholar 

  • Dobyns WB, Andermann E, Andermann F, Czapansky-Beilman D, Dubeau F, Dulac O, Guerrini R, Hirsch B, Ledbetter DH, Lee NS, Motte J, Pinard JM, Radtke RA, Ross ME, Tampieri D, Walsh CA, Truwit CL (1996) X-linked malformations of neuronal migration. Neurology 47(2):331–339

    Article  PubMed  CAS  Google Scholar 

  • Dobyns WB, Guerrini R, Czapansky-Beilman DK, Pierpont ME, Breningstall G, Yock DH Jr, Bonanni P, Truwit CL (1997) Bilateral periventricular nodular heterotopia with mental retardation and syndactyly in boys: a new X-linked mental retardation syndrome. Neurology 49(4):1042–1047

    Article  PubMed  CAS  Google Scholar 

  • Dundar NO, Boz A, Duman O, Aydin F, Haspolat S (2008) Spontaneous periodic hypothermia and hyperhidrosis. Pediatr Neurol 39:438–440

    Article  PubMed  Google Scholar 

  • Fauser S, Huppertz HJ, Bast T, Strobl K, Pantazis G, Altenmueller DM, Feil B, Rona S, Kurth C, Rating D, Korinthenberg R, Steinhoff BJ, Volk B, Schulze-Bonhage A (2006) Clinical characteristics in focal cortical dysplasia: a retrospective evaluation in a series of 120 patients. Brain 129:1907–1916

    Article  PubMed  Google Scholar 

  • Flores-Sarnat L (2002) Hemimegalencephaly. I. Genetic, clinical, and imaging aspects. J Child Neurol 17:373–384

    Article  PubMed  Google Scholar 

  • Flores-Sarnat L, Sarnat HB, Dávila-Gutiérrez G, Alvarez A (2003) Hemimegalencephaly: part 2. Neuropathology suggests a disorder of cellular lineage. J Child Neurol 18(11):776–785

    Article  PubMed  Google Scholar 

  • Forman MS, Squier W, Dobyns WB, Golden JA (2005) Genotypically defined lissencephalies show distinct pathologies. J Neuropathol Exp Neurol 64(10):847–857

    Article  PubMed  Google Scholar 

  • Fox JW, Lamperti ED, Ekşioğlu YZ, Hong SE, Feng Y, Graham DA, Scheffer IE, Dobyns WB, Hirsch BA, Radtke RA, Berkovic SF, Huttenlocher PR, Walsh CA (1998) Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia. Neuron 21(6):1315–1325

    Article  PubMed  CAS  Google Scholar 

  • Frazier JL, Goodwin CR, Ahn ES, Jallo GI (2009) A review on the management of epilepsy associated with hypothalamic hamartomas. Childs Nerv Syst 25:423–432

    Article  PubMed  Google Scholar 

  • Freeman JL, Coleman LT, Wellard RM, Kean MJ, Rosenfeld JV, Jackson GD, Berkovic SF, Harvey AS (2004) MR imaging and spectroscopic study of epileptogenic hypothalamic hamartomas: analysis of 72 cases. AJNR Am J Neuroradiol 25:450–462

    PubMed  Google Scholar 

  • Friede R (1989) Developmental neuropathology, 2nd edn. Springer, Berlin

    Book  Google Scholar 

  • Garavelli L, Guareschi E, Errico S, Simoni A, Bergonzini P, Zollino M, Gurrieri F, Mancini GM, Schot R, Van Der Spek PJ, Frigieri G, Zonari P, Albertini E, Giustina ED, Amarri S, Banchini G, Dobyns WB, Neri G (2007) Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus [MPPH]: report of a new case. Neuropediatrics 38:200–203

    Article  PubMed  CAS  Google Scholar 

  • Garbelli R, Milesi G, Medici V, Villani F, Didato G, Deleo F, D'Incerti L, Morbin M, Mazzoleni G, Giovagnoli AR, Parente A, Zucca I, Mastropietro A, Spreafico R (2012) Blurring in patients with temporal lobe epilepsy: clinical, high-field imaging and ultrastructural study. Brain, Aug 135(Pt 8):2337--2349

    Google Scholar 

  • Giordano L, Vignoli A, Pinelli L, Brancati F, Accorsi P, Faravelli F, Gasparotti R, Granata T, Giaccone G, Inverardi F, Frassoni C, Dallapiccola B, Valente EM, Spreafico R (2009) Joubert syndrome with bilateral polymicrogyria: clinical and neuropathological findings in two brothers. Am J Med Genet A 149A:1511–1515

    Article  PubMed  CAS  Google Scholar 

  • Gripp KW, Hopkins E, Vinkler C, Lev D, Malinger G, Lerman-Sagie T, Dobyns WB (2009) Significant overlap and possible identity of macrocephaly capillary malformation and megalencephaly polymicrogyria-polydactyly hydrocephalus syndromes. Am J Med Genet A 149A:868–876

    Article  PubMed  Google Scholar 

  • Guerrini R, Dobyns WB (1998) Bilateral periventricular nodular heterotopia with mental retardation and frontonasal malformation. Neurology 51(2):499–503

    Article  PubMed  CAS  Google Scholar 

  • Hayashi N, Tsutsumi Y, Barkovich AJ (2002) Polymicrogyria without porencephaly/schizencephaly. MRI analysis of the spectrum and the prevalence of macroscopic findings in the clinical population. Neuroradiology 44(8):647–655

    Article  PubMed  CAS  Google Scholar 

  • Hermier M, Montavont A, Dupuis-Girod S, Cho TH, Honnorat J, Plauchu H (2010) Polymicrogyria: an underrecognized cause of epilepsy in in patients with hereditary hemorrhagic telangiectasia (Rendu-Osler disease). Epilepsia 51(Suppl 4):1–189

    Google Scholar 

  • Hevner RF (2005) The cerebral cortex malformation in thanatophoric dysplasia: neuropathology and pathogenesis. Acta Neuropathol 110(3):208–221

    Article  PubMed  Google Scholar 

  • Hildebrandt M, Pieper T, Winkler P, Kolodziejczyk D, Holthausen H, Blümcke I (2005) Neuropathological spectrum of cortical dysplasia in children with severe focal epilepsies. Acta Neuropathol 110(1):1–11

    Article  PubMed  Google Scholar 

  • Hoyt CS, Billson F, Ouvrier R, Wise G (1978) Ocular features of Aicardi’s syndrome. Arch Ophthalmol 96:291–295

    Article  PubMed  CAS  Google Scholar 

  • Huppertz HJ, Wellmer J, Staack AM, Altenmüller DM, Urbach H, Kröll J (2008) Voxel-based 3-D MRI analysis helps to detect subtle forms of subcortical band heterotopia. Epilepsia 49(5):772–785

    Article  PubMed  Google Scholar 

  • Jackson AP (2002) Identification of microcephalin, a protein implicated in determining the size of the human brain. Am J Hum Genet 71(1):136–142

    Article  PubMed  CAS  Google Scholar 

  • Jansen A, Andermann E (2005) Genetics of the polymicrogyria syndromes. J Med Genet 42(5):369–378

    Article  PubMed  CAS  Google Scholar 

  • Jissendi-Tchofo P, Kara S, Barkovich AJ (2009) Midbrain–hindbrain involvement in lissencephalies. Neurology 72(5):410–418

    Article  PubMed  Google Scholar 

  • Kallmann FT, Schoenfeld WA, Barrera SE (1944) The genetics aspects of primary eunuchoidism. Am J Mental Deficits 48:203–208

    Google Scholar 

  • Kirschstein T, Fernandez G, Grunwald T, Pezer N, Urbach H, Blümcke I, Van Roost D, Lehnertz K, Elger CE (2003) Heterotopias, cortical dysplasias and glioneural tumors participate in cognitive processing in patients with temporal lobe epilepsy. Neurosci Lett 338:237–241

    Article  PubMed  CAS  Google Scholar 

  • Knorr JR, Ragland RL, Brown RS, Gelber N (1993) Kallmann syndrome: MR findings. AJNR Am J Neuroradiol. 14(4):845–851

    PubMed  CAS  Google Scholar 

  • Krsek P, Maton B, Korman B, Pacheco-Jacome E, Jayakar P, Dunoyer C, Rey G, Morrison G, Ragheb J, Vinters HV, Resnick T, Duchowny M (2008) Different features of histopathological subtypes of pediatric focal cortical dysplasia. Ann Neurol 63(6):758–769

    Article  PubMed  Google Scholar 

  • Krsek P, Pieper T, Karlmeier A, Hildebrandt M, Kolodziejczyk D, Winkler P, Pauli E, Blümcke I, Holthausen H (2009a) Different presurgical characteristics and seizure outcomes in children with focal cortical dysplasia type I or II. Epilepsia 50(1):125–137

    Article  PubMed  Google Scholar 

  • Krsek P, Maton B, Jayakar P, Dean P, Korman B, Rey G, Dunoyer C, Pacheco-Jacome E, Morrison G, Ragheb J, Vinters HV, Resnick T, Duchowny M (2009b) Incomplete resection of focal cortical dysplasia is the main predictor of poor postsurgical outcome. Neurology 72(3):217–223

    Article  PubMed  CAS  Google Scholar 

  • Kuzniecky R, Andermann F, Guerrini R (1993) Congenital bilateral perisylvian syndrome: study of 31 patients. The congenital bilateral perisylvian syndrome multicenter collaborative study. Lancet 341:608–612

    Article  PubMed  CAS  Google Scholar 

  • Lerner JT, Salamon N, Hauptman JS, Velasco TR, Hemb M, Wu JY, Sankar R, Donald Shields W, Engel J Jr, Fried I, Cepeda C, Andre VM, Levine MS, Miyata H, Yong WH, Vinters HV, Mathern GW (2009) Assessment of surgical outcomes for mild type I and severe type II cortical dysplasia: a critical review and the UCLA experience. Epilepsia 50:1310–1335

    Article  PubMed  Google Scholar 

  • Leventer RJ, Jansen A, Pilz DT, Stoodley N, Marini C, Dubeau F, Malone J, Mitchell LA, Mandelstam S, Scheffer IE, Berkovic SF, Andermann F, Andermann E, Guerrini R, Dobyns WB (2010) Clinical and imaging heterogeneity of polymicrogyria: a study of 328 patients. Brain 133:1415–1427

    Article  PubMed  Google Scholar 

  • Lewis AJ, Simon EM, Barkovich AJ, Clegg NJ, Delgado MR, Levey E, Hahn JS (2002) Middle interhemispheric variant of holoprosencephaly: a distinct cliniconeuroradiologic subtype. Neurology 59(12):1860–1865.

    Google Scholar 

  • Matsunaga E, Shiota K (1977) Holoprosencephaly in human embryos: epidemiologic studies of 150 cases. Teratology 16:261–272

    Article  PubMed  CAS  Google Scholar 

  • Miller SP, Shevell MI, Patenaude Y, Poulin C, O’Gorman AM (2000) Septo-optic dysplasia plus: a spectrum of malformations of cortical development. Neurology 54:1701–1703

    Article  PubMed  CAS  Google Scholar 

  • Moog U, De Die-Smulders CE, Schrander-Stumpel CT, Engelen JJ, Hamers AJ, Frints S, Fryns JP (2001) Holoprosencephaly: the Maastricht experience. Genet Couns 12(3):287–298

    PubMed  CAS  Google Scholar 

  • Oba H, Barkovich AJ (1995) Holoprosencephaly: an analysis of callosal formation and its relation to development of the interhemispheric fissure. AJNR Am J Neuroradiol 16:453–460

    PubMed  CAS  Google Scholar 

  • Palm L, Hägerstrand I, Kristoffersson U, Blennow G, Brun A, Jörgensen C (1986) Nephrosis and disturbances of neuronal migration in male siblings--a new hereditary disorder? Arch Dis Child 61(6):545–548

    Google Scholar 

  • Palmini A, Lüders H (2002) Classification issues in malformations caused by abnormalities of cortical development. Neurosurg Clin N Am 13:1–16

    Article  PubMed  Google Scholar 

  • Palmini A, Najm I, Avanzini G, Babb T, Guerrini R, Foldvary-Schaefer N, Jackson G, Lüders HO, Prayson R, Spreafico R, Vinters HV (2004) Terminology and classification of the cortical dysplasias. Neurology 62(6 Suppl 3):S2–S8. Review

    Google Scholar 

  • Pattison L, Crow YJ, Deeble VJ, Jackson AP, Jafri H, Rashid Y, Roberts E, Woods CG (2000) A fifth locus for primary autosomal recessive microcephaly maps to chromosome 1q31. Am J Hum Genet 67:1578–1580

    Article  PubMed  CAS  Google Scholar 

  • Pilz DT, Matsumoto N, Minnerath S, Mills P, Gleeson JG, Allen KM, Walsh CA, Barkovich AJ, Dobyns WB, Ledbetter DH, Ross ME (1998) LISI and XLIS (DCX) mutations cause most classical lissencephaly, but different patterns of malformation. Hum Mol Genet 7:2029–2037

    Article  PubMed  CAS  Google Scholar 

  • Pilz DT, Kuc J, Matsumoto N, Bodurtha J, Bernadi B, Tassinari CA, Dobyns WB, Ledbetter DH (1999) Subcortical band heterotopia in rare affected males can be caused by missense mutations in DCX (XLIS) or LIS1. Hum Mol Genet 8(9):1757–1760

    Article  PubMed  CAS  Google Scholar 

  • Rakic P (1988) Defects of neuronal migration and the pathogenesis of cortical malformation. Prog Brain Res 73:15–37

    Article  PubMed  CAS  Google Scholar 

  • Roach E, Demyer W, Conneally PM, Palmer C, Merritt AD (1975) Holoprosencephaly: birth data, benetic and demographic analyses of 30 families. Birth Defects Orig Artic Ser 11(2):294–313

    PubMed  CAS  Google Scholar 

  • Robin NH, Ko LM, Heeger S, Muise KL, Judge N, Bangert BA (1996) Syntelencephaly in an infant of a diabetic mother. Am J Med Genet 66:433–437

    Article  PubMed  CAS  Google Scholar 

  • Roessler E, Muenke M (1999) The molecular genetics of holoprosencephaly: a model of brain development for the next century. Child’s Nerv Syst 15:646–651

    Article  CAS  Google Scholar 

  • Rosenberg MJ, Agarwala R, Bouffard G, Davis J, Fiermonte G, Hilliard MS, Koch T, Kalikin LM, Makalowska I, Morton DH, Petty EM, Weber JL, Palmieri F, Kelley RI, Schäffer AA, Biesecker LG (2002) Mutant deoxynucleotide carrier is associated with congenital microcephaly. Nat Genet 32(1):175–179

    Article  PubMed  CAS  Google Scholar 

  • Ross ME, Swanson K, Dobyns WB (2001) Lissencephaly with cerebellar hypoplasia (LCH): a heterogeneous group of cortical malformations. Neuropediatrics 32:256–263

    Article  PubMed  CAS  Google Scholar 

  • Schijns OE, Bien CG, Majores M, von Lehe M, Urbach H, Becker A, Schramm J, Elger CE, Clusmann H (2011) Presence of temporal gray–white matter abnormalities does not influence epilepsy surgery outcome in temporal lobe epilepsy with hippocampal sclerosis. Neurosurgery 68(1):98–106

    Article  PubMed  Google Scholar 

  • Shapiro WR, Williams GH, Plum F (1969) Spontaneous recurrent hypothermia accompanying agenesis of the corpus callosum. Brain 92:423–436

    Article  PubMed  CAS  Google Scholar 

  • Sheen VL, Wheless JW, Bodell A, Braverman E, Cotter PD, Rauen KA, Glenn O, Weisiger K, Packman S, Walsh CA, Sherr EH (2003) Periventricular heterotopia associated with chromosome 5p anomalies. Neurology 60(6):1033–1036

    Article  PubMed  CAS  Google Scholar 

  • Sheen VL, Ganesh VS, Topcu M, Sebire G, Bodell A, Hill RS, Grant PE, Shugart YY, Imitola J, Khoury SJ, Guerrini R, Walsh CA (2004) Mutations in ARFGEF2 implicate vesicle trafficking in neural progenitor proliferation and migration in the human cerebral cortex. Nat Genet 36(1):69–76

    Article  PubMed  CAS  Google Scholar 

  • Shen J, Gilmore EC, Marshall CA, Haddadin M, Reynolds JJ, Eyaid W, Bodell A, Barry B, Gleason D, Allen K, Ganesh VS, Chang BS, Grix A, Hill RS, Topcu M, Caldecott KW, Barkovich AJ, Walsh CA (2010) Mutations in PNKP cause microcephaly, seizures and defects in DNA repair. Nat Genet 42(3):245–249

    Article  PubMed  CAS  Google Scholar 

  • Sicca F, Kelemen A, Genton P, Das S, Mei D, Moro F, Dobyns WB, Guerrini R (2003) Mosaic mutations of the LISI gene cause subcortical band heterotopia. Neurology 61(8):1042–1046

    Article  PubMed  CAS  Google Scholar 

  • Simon EM, Hevner RF, Pinter J, Clegg NJ, Delgado M, Kinsman SL, Hahn JS, Barkovich AJ (2001) The dorsal cyst in holoprosencephaly and the role of the thalamus in its formation. Neuroradiology 43:787–791

    Article  PubMed  CAS  Google Scholar 

  • Sims J (1835) On hypertrophy and atrophy of the brain. Med Quir Trans 19:315–380

    CAS  Google Scholar 

  • Takanashi J, Barkovich AJ (2003) The changing MR imaging appearance of polymicrogyria: a consequence of myelination. AJNR Am J Neuroradiol 24(5):788–793

    PubMed  Google Scholar 

  • Tambasco N, Corea F, Bocola V (2005) Subtotal corpus callosum agenesis with recurrent hyperhidrosis-hypothermia (Shapiro syndrome). Neurology 65:124

    Article  PubMed  Google Scholar 

  • Tampieri D, Walsh CA, Truwit CL (1993) X-linked malformations of neuronal migration. Neurology 47:331–339

    Google Scholar 

  • Tassi L, Garbelli R, Colombo N, Bramerio M, Lo Russo G, Deleo F, Milesi G, Spreafico R (2010) Type I focal cortical dysplasia: surgical outcome is related to histopathology. Epileptic Disord 3:181–191

    Google Scholar 

  • Taylor DC, Falconer MA, Bruton CJ, Corsellis JA (1971) Focal dysplasia of the cerebral cortex in epilepsy. J Neurol Neurosurg Psychiatry 34(4):369–387

    Article  PubMed  CAS  Google Scholar 

  • Tortori-Donati P (2005) Pediatric neuroradiology brain. Springer, Berlin

    Book  Google Scholar 

  • Truwit CL, Barkovich AJ, Grumbach MM, Martini JJ (1993) MR imaging of Kallmann syndrome, a genetic disorder of neuronal migration affecting the olfactory and genital systems. AJNR Am J Neuroradiol 14(4):827–838

    PubMed  CAS  Google Scholar 

  • Urbach H, Scheffler B, Heinrichsmeier T, von Oertzen J, Kral T, Wellmer J, Schramm J, Wiestler OD, Blümcke I (2002) Focal cortical dysplasia of Taylor’s balloon cell type: a clinicopathological entity with characteristic neuroimaging and histopathological features, and favorable postsurgical outcome. Epilepsia 43:33–40

    Article  PubMed  Google Scholar 

  • Urbach H, Blümcke I, Becker A, Solymosi L (2003) Störungen der kortikalen Entwicklung: Bildgebung und Klassifizierung. Klin Neuroradiol 13:163–172

    Article  Google Scholar 

  • Valdueza JM, Cristante L, Dammann O, Bentele K, Vortmeyer A, Saeger W, Padberg B, Freitag J, Herrmann HD (1994) Hypothalamic hamartomas: with special reference to gelastic epilepsy and surgery. Neurosurgery 34:949–958

    Article  PubMed  CAS  Google Scholar 

  • Wagner J, Wellmer J, Urbach H, Niehusmann P, von Lehe M, Elger CE (2011a) Focal cortical dysplasia type IIb: completeness of cortical, not subcortical resection is necessary for seizure freedom. Epilepsia 52:1418–1424

    Article  PubMed  Google Scholar 

  • Wagner J, Weber B, Urbach H, Elger CE, Huppertz HJ (2011b) Morphometric MRI analysis improves detection of focal cortical dysplasia type II. Brain 134(Pt 10):2844–2854

    Article  PubMed  Google Scholar 

  • Widdess-Walsh P, Kellinghaus C, Jeha L, Kotagal P, Prayson R, Bingaman W, Najm IM (2005) Electro-clinical and imaging characteristics of focal cortical dysplasia: correlation with pathological subtypes. Epilepsy Res 67:25–33

    Article  PubMed  Google Scholar 

  • Wolpert SM, Cohen A, Libenson MH (1994) Hemimegalencephaly: a longitudinal MR study. AJNR Am J Neuroradiol 15:1479–1482

    PubMed  CAS  Google Scholar 

  • Yagishita A, Arai N, Tamagawa K, Oda M (1998) Hemimegalencephaly: signal changes suggesting abnormal myelination on MRI. Neuroradiology 40(11):734–738

    Article  PubMed  CAS  Google Scholar 

  • Yakovlev PI (1959) Pathoarchitectonic studies of cerebral malformations. III. Arhinencephalies (holoprosencephalies). J Neuropathol Exp Neurol 18:22–55

    Article  PubMed  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Department of Neuroradiology, University Hospital Freiburg, Freiburg, Germany

    Horst Urbach

  2. Deptartment of Radiology/Neuroradiology, University of Bonn, Bonn, Germany

    Susanne Greschus

Authors
  1. Horst Urbach
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Susanne Greschus
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Horst Urbach .

Editor information

Editors and Affiliations

  1. , Radiology/Neuroradiology, University Hospital Bonn, Siegmund Freud-Str. 25, Bonn, 53105, Germany

    Horst Urbach

Rights and permissions

Reprints and permissions

Copyright information

© 2013 Springer-Verlag Berlin Heidelberg

About this chapter

Cite this chapter

Urbach, H., Greschus, S. (2013). Malformations of Cortical Development. In: Urbach, H. (eds) MRI in Epilepsy. Medical Radiology(). Springer, Berlin, Heidelberg. https://doi.org/10.1007/174_2012_749

Download citation

  • DOI: https://doi.org/10.1007/174_2012_749

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-642-25137-5

  • Online ISBN: 978-3-642-25138-2

  • eBook Packages: MedicineMedicine (R0)

Publish with us

Policies and ethics

Search

Navigation