Fetal MRI pp 287-308 | Cite as

Cerebral Malformations

  • Daniela Prayer
  • Peter C. Brugger
  • Ursula Nemec
  • Ruxandra Iulia Milos
  • Christian Mitter
  • Gregor Kasprian
Part of the Medical Radiology book series (MEDRAD)


During the second trimester cerebral malformations may present with morphological features that are different from those that are seen in a more mature brain. Consequently, the chapter focuses on early detection of cerebral malformations. MR- sequences that might be useful for the detection of changes in fetal brain development are described. A schematic approach, including the assessment of lamination of the brain parenchyma, the appearance of deep gray matter structures, the width and shape of the ventricles and outer CSF spaces, the midline structures, and the cerebellum is suggested. Salient features of the second-trimester appearance of lissencephaly/polymicrogyria syndromes, holoprosencephaly (HPE), and commissural agenesis that may be detected early are discussed.


Fourth Ventricle Gestational Week Septum Pellucidum Cerebellar Hypoplasia Cavum Septi Pellucidi 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


  1. Achiron R, Kivilevitch Z, Lipitz S, Gamzu R, Almog B, Zalel Y (2004) Development of the human fetal pons: in utero ultrasonographic study. Ultrasound Obstet Gynecol 24:506–510PubMedCrossRefGoogle Scholar
  2. Adamsbaum C, Moutard ML, Andre C, Merzoug V, Ferey S, Quere MP, Lewin F, Fallet-Bianco C (2005) MRI of the fetal posterior fossa. Pediatr Radiol 35:124–140PubMedCrossRefGoogle Scholar
  3. Aftimos S, McGaughran J (2001) Toriello-Carey syndrome: case report with additional findings. Am J Med Genet 98:273–276PubMedCrossRefGoogle Scholar
  4. Aida N, Tamagawa K, Takada K, Yagishita A, Kobayashi N, Chikumaru K, Iwamoto H (1996) Brain MR in Fukuyama congenital muscular dystrophy. AJNR Am J Neuroradiol 17:605–613PubMedGoogle Scholar
  5. Allanson JE, Ledbetter DH, Dobyns WB (1998) Classical lissencephaly syndromes: does the face reflect the brain? J Med Genet 35:920–923PubMedCrossRefGoogle Scholar
  6. Anik I, Koc K, Anik Y, Yildiz DK, Ceylan S (2010) Tectocerebellar dysraphism with vermian encephalocele. J Child Neurol [Epub ahead of print]Google Scholar
  7. Barkovich AJ (1998) Neuroimaging manifestations and classification of congenital muscular dystrophies. AJNR Am J Neuro­radiol 19:1389–1396PubMedGoogle Scholar
  8. Barkovich AJ (2005) Pediatric neuroimaging, 4th edn. Lippincott Williams & Wilkins, PhiladelphiaGoogle Scholar
  9. Barkovich AJ, Millen KJ, Dobyns WB (2009) A developmental and genetic classification for midbrain-hindbrain malformations. Brain 132:3199–3230PubMedCrossRefGoogle Scholar
  10. Barth PG (2000) Pontocerebellar hypoplasia – how many types? Eur J Paediatr Neurol 4:161–162PubMedCrossRefGoogle Scholar
  11. Blaas HG, Eik-Nes SH (2009) Sonoembryology and early prenatal diagnosis of neural anomalies. Prenat Diagn 29:312–325PubMedCrossRefGoogle Scholar
  12. Blazer S, Berant M, Sujov PO, Zimmer EZ, Bronshtein M (1997) Prenatal sonographic diagnosis of vermal agenesis. Prenat Diagn 17:907–911PubMedCrossRefGoogle Scholar
  13. Boddaert N, Klein O, Ferguson N, Sonigo P, Parisot D, ­Hertz-Pannier L, Baraton J, Emond S, Simon I, Chigot V, Schmit P, Pierre-Kahn A, Brunelle F (2003) Intellectual prognosis of the ­Dandy-Walker malformation in children: the importance of vermian lobulation. Neuroradiology 45:320–324PubMedGoogle Scholar
  14. Bolduc ME, Limperopoulos C (2009) Neurodevelopmental outcomes in children with cerebellar malformations: a systematic review. Dev Med Child Neurol 51:256–267PubMedCrossRefGoogle Scholar
  15. Boog G, Le Vaillant C, Collet M, Dupré PF, Parent P, Bongain A, Benoit B, Trastour C (2004) Prenatal sonographic patterns in six cases of Wolf-Hirschhorn (4p-)syndrome. Fetal Diagn Ther 19:421–430PubMedCrossRefGoogle Scholar
  16. Bronshtein M, Wiener Z (1991) Early transvaginal sonographic diagnosis of alobar holoprosencephaly. Prenat Diagn 11:459–462PubMedCrossRefGoogle Scholar
  17. Brunelle F (1997) Arteriovenous malformation of the vein of Galen in children. Pediatr Radiol 27:501–513PubMedCrossRefGoogle Scholar
  18. Bun YY, Ming CK, Ming CH, Ling CY, Ming CC (2009) Endovascular treatment of a neonate with dural arteriovenous fistula and other features suggestive of cerebrofacial arteriovenous metameric syndromes. Childs Nerv Syst 25:383–387PubMedCrossRefGoogle Scholar
  19. Calabrò F, Arcuri T, Jinkins JR (2000) Blake’s pouch cyst: an entity within the Dandy-Walker continuum. Neuroradiology 42:290–295PubMedCrossRefGoogle Scholar
  20. Callen AL, Filly RA (2008) Supratentorial abnormalities in the Chiari II malformation, I: the ventricular “point”. J Ultrasound Med 27:33–38PubMedGoogle Scholar
  21. Callen AL, Stengel JW, Filly RA (2009) Supratentorial abnormalities in the Chiari II malformation, II: tectal morphologic changes. J Ultrasound Med 28:29–35PubMedGoogle Scholar
  22. Chang BS, Piao X, Giannini C, Cascino GD, Scheffer I, Woods CG, Topcu M, Tezcan K, Bodell A, Leventer RJ, Barkovich AJ, Grant PE, Walsh CA (2004) Bilateral generalized polymicrogyria (BGP): a distinct syndrome of cortical malformation. Neurology 25:1722–1728CrossRefGoogle Scholar
  23. Chassaing N, Lacombe D, Carles D, Calvas P, Saura R, Bieth E (2003) Donnai-Barrow syndrome: four additional patients. Am J Med Genet A 121A:258–262PubMedCrossRefGoogle Scholar
  24. Chitayat D, Toi A, Babul R, Blaser S, Moola S, Yarkoni D, Sermer M, Johnson JA, Vasjar J, Teshima I (1997) Omphalocele in Miller-Dieker syndrome: expanding the phenotype. Am J Med Genet A 69:293–298CrossRefGoogle Scholar
  25. Chung R, Kasprian G, Brugger PC, Prayer D (2009) The current state and future of fetal imaging. Clin Perinatol 36:685–699PubMedCrossRefGoogle Scholar
  26. 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 64:573–582PubMedCrossRefGoogle Scholar
  27. de Koning TJ, de Vries LS, Groenendaal F, Ruitenbeek W, Jansen GH, Poll-The BT, Barth PG (1999) Pontocerebellar hypoplasia associated with respiratory-chain defects. Neuropediatrics 30:93–95PubMedCrossRefGoogle Scholar
  28. Dhombres F, Nahama-Allouche C, Gelot A, Jouannic JM, de Villemeur TB, Saint-Frison MH, le Pointe HD, Garel C (2008) Prenatal ultrasonographic diagnosis of polymicrogyria. Ultrasound Obstet Gynecol 32:951–954PubMedCrossRefGoogle Scholar
  29. Dobyns WB (2010) The clinical patterns and molecular genetics of lissencephaly and subcortical band heterotopia. Epilepsia 51:5–9PubMedCrossRefGoogle Scholar
  30. Dubourg C, Bendavid C, Pasquier L, Henry C, Odent S, David V (2007) Holoprosencephaly. Orphanet J Rare Dis 2:8PubMedCrossRefGoogle Scholar
  31. Durfee SM, Kim FM, Benson CB (2001) Postnatal outcome of fetuses with the prenatal diagnosis of asymmetric hydrocephalus. J Ultrasound Med 20:263–268PubMedGoogle Scholar
  32. Fallet-Bianco C, Loeuillet L, Poirier K, Loget P, Chapon F, Pasquier L, Saillour Y, Beldjord C, Chelly J, Francis F (2008) Neuropathological phenotype of a distinct form of lissencephaly associated with mutations in TUBA1A. Brain 131:2304–2320PubMedCrossRefGoogle Scholar
  33. Forman MS, Squier W, Dobyns WB, Golden JA (2005) Genotypically defined lissencephalies show distinct pathologies. J Neuropathol Exp Neurol 64:847–857PubMedCrossRefGoogle Scholar
  34. Forzano F, Mansour S, Ierullo A, Homfray T, Thilaganathan B (2007) Posterior fossa malformation in fetuses: a report of 56 further cases and a review of the literature. Prenat Diagn 27:495–501PubMedCrossRefGoogle Scholar
  35. Garel C (2010) Posterior fossa malformations: main features and limits in prenatal diagnosis. Pediatr Radiol 40:1038–1045PubMedCrossRefGoogle Scholar
  36. Geibprasert S, Krings T, Armstrong D, Terbrugge KG, Raybaud CA (2010) Predicting factors for the follow-up outcome and management decisions in vein of Galen aneurysmal malformations. Childs Nerv Syst 26:35–46PubMedCrossRefGoogle Scholar
  37. Ghai S, Fong KW, Toi A, Chitayat D, Pantazi S, Blaser S (2006) Prenatal US and MR imaging findings of lissencephaly: review of fetal cerebral sulcal development. Radiographics 26:389–405PubMedCrossRefGoogle Scholar
  38. Greene ND, Copp AJ (2009) Development of the vertebrate central nervous system: formation of the neural tube. Prenat Diagn 29:303–311PubMedCrossRefGoogle Scholar
  39. Guardiola A, Koltermann V, Aguiar PM, Grossi SP, Fleck V, Pereira EC, Pellanda L (2009) Neurological congenital malformations in a tertiary hospital in south Brazil. Arq Neuropsiquiatr 67:807–811PubMedCrossRefGoogle Scholar
  40. Guibaud L (2004) Practical approach to prenatal posterior fossa abnormalities using MRI. Pediatr Radiol 34:700–711PubMedCrossRefGoogle Scholar
  41. Guibaud L, des Portes V (2006) Plea for an anatomical approach to abnormalities of the posterior fossa in prenatal diagnosis. Ultrasound Obstet Gynecol 5:477–481CrossRefGoogle Scholar
  42. Hahn JS, Barnes PD (2010) Neuroimaging advances in holoprosencephaly: refining the spectrum of the midline malformation. Am J Med Genet C Semin Med Genet 15:120–132Google Scholar
  43. Hayward R (2009) Postnatal management and outcome for fetal-diagnosed intra-cerebral cystic masses and tumours. Prenat Diagn 29:396–401PubMedCrossRefGoogle Scholar
  44. Hopkins B, Sutton VR, Lewis RA, Van den Veyver I, Clark G (2008) Neuroimaging aspects of Aicardi syndrome. Am J Med Genet A 15:2871–2878Google Scholar
  45. Hussain N, Curran A, Pilling D, Malluci CL, Ladusans EJ, Alfirevic Z, Pizer B (2006) Congenital subependymal giant cell astrocytoma diagnosed on fetal MRI. Arch Dis Child 91:520PubMedCrossRefGoogle Scholar
  46. Jaeken J, Matthijs G (2007) Congenital disorders of glycosylation: a rapidly expanding disease family. Annu Rev Genomics Hum Genet 8:261–278PubMedCrossRefGoogle Scholar
  47. Jissendi-Tchofo P, Kara S, Barkovich AJ (2009) Midbrain-hindbrain involvement in lissencephalies. Neurology 72:410–418PubMedCrossRefGoogle Scholar
  48. Kasprian G, Brugger PC, Weber M, Krssák M, Krampl E, Herold C, Prayer D (2008) In utero tractography of fetal white matter development. Neuroimage 43:213–224PubMedCrossRefGoogle Scholar
  49. Kasprian G, Langs G, Brugger PC, Bittner M, Weber M, Arantes M, Prayer D (2010) The prenatal origin of hemispheric asymmetry: an in utero neuroimaging study. Cereb Cortex [Epub ahead of print]Google Scholar
  50. Kier EL, Truwit CL (1997) The lamina rostralis: modification of concepts concerning the anatomy, embryology, and MR appearance of the rostrum of the corpus callosum. AJNR Am J Neuroradiol 18:715–722PubMedGoogle Scholar
  51. Kjaer I, Hansen N, Becktor KB, Birkebaek N, Balslev T (2001) Craniofacial morphology, dentition, and skeletal maturity in four siblings with Seckel syndrome. Cleft Palate Craniofac J 38:645–651PubMedCrossRefGoogle Scholar
  52. Klein O, Pierre-Kahn A, Boddaert N, Parisot D, Brunelle F (2003) Dandy-Walker malformation: prenatal diagnosis and prognosis. Childs Nerv Syst 19:484–489PubMedCrossRefGoogle Scholar
  53. Koenigkam-Santos M, de Castro M, Versiani BR, Diniz PR, Santos AC (2010) Kallmann syndrome and mirror movements: white matter quantitative evaluation with magnetic resonance imaging. J Neurol Sci 15:40–44CrossRefGoogle Scholar
  54. Kostovic I, Vasung L (2009) Insights from in vitro fetal magnetic resonance imaging of cerebral development. Semin Perinatol 33:220–233PubMedCrossRefGoogle Scholar
  55. Levine D, Trop I, Mehta TS, Barnes PD (2002) MR imaging appearance of fetal cerebral ventricular morphology. Radiology 223:652–660PubMedCrossRefGoogle Scholar
  56. Lim CC, Yin H, Loh NK, Chua VG, Hui F, Barkovich AJ (2005) Malformations of corticaldevelopment: high-resolution MR and diffusion tensor imaging of fiber tracts at 3T. AJNR Am J Neuroradiol 26:61–64PubMedGoogle Scholar
  57. Limperopoulos C, Robertson RL, Estroff JA, Barnewolt C, Levine D, Bassan H, du Plessis AJ (2006) Diagnosis of inferior vermian hypoplasia by fetal magnetic resonance imaging: potential pitfallsand neurodevelopmental outcome. Am J Obstet Gynecol 194(4):1070–1076PubMedCrossRefGoogle Scholar
  58. Longman C, Mercuri E, Cowan F, Allsop J, Brockington M, Jimenez-Mallebrera C, Kumar S, Rutherford M, Toda T, Muntoni F (2004) Antenatal and postnatal brain magnetic resonance imaging in muscle-eye-brain disease. Arch Neurol 61:1301–1306PubMedCrossRefGoogle Scholar
  59. Maeda T, Akaishi M, Shimizu M, Sekiguchi K, Anan A, Takano T, Imai K, Suenobu S, Korematsu S, Izumi T (2009) The subclassification of schizencephaly and its clinical characterization. Brain Dev 31:694–701PubMedCrossRefGoogle Scholar
  60. Malinger G, Lev D, Kidron D, Heredia F, Hershkovitz R, Lerman-Sagie T (2005) Differential diagnosis in fetuses with absent septum pellucidum. Ultrasound Obstet Gynecol 25:42–49PubMedCrossRefGoogle Scholar
  61. McInnes M, Fong K, Grin A, ter Brugge K, Blaser S, Halliday W, Shannon P (2009) Malformations of the fetal dural sinuses. Can J Neurol Sci 36:72–77PubMedGoogle Scholar
  62. Mighell AS, Johnstone ED, Levene M (2009) Post-natal investigations: management and prognosis for fetuses with CNS anomalies identified in utero excluding neurosurgical problems. Prenat Diagn 29:442–449PubMedCrossRefGoogle Scholar
  63. Mitchell LA, Simon EM, Filly RA, Barkovich AJ (2000) Antenatal diagnosis of subependymal heterotopia. AJNR Am J Neuroradiol 21:296–300PubMedGoogle Scholar
  64. Mühler MR, Rake A, Schwabe M, Schmidt S, Kivelitz D, Chaoui R, Hamm B (2007) Value of fetal cerebral MRI in sonographically proven cardiac rhabdomyoma. Pediatr Radiol 37:467–474PubMedCrossRefGoogle Scholar
  65. Nanni L, Ming JE, Du Y, Hall RK, Aldred M, Bankier A, Muenke M (2001) SHH mutation is associated with solitary median maxillary central incisor: a study of 13 patients and review of the literature. Am J Med Genet A 102:1–10CrossRefGoogle Scholar
  66. Noronha LD, Medeiros F, Martins VD, Nones RB, Sepulcri RP, Prevedello LM, Sampaio GA, Serapião MJ, Torres LF (2001) The neuropathology of neonatal period: analysis of 1616 autopsies. Arq Neuropsiquiatr 59:411–416CrossRefGoogle Scholar
  67. Oi S (2003) Diagnosis, outcome, and management of fetal abnormalities: fetal hydrocephalus. Childs Nerv Syst 19:508–516PubMedCrossRefGoogle Scholar
  68. Ozanne A, Alvarez H, Krings T, Lasjaunias P (2007) Pediatric neurovascular malformations: vein of Galen arteriovenous malformations (VGAM), pial arteriovenous malformations (pial AVM), dural sinus malformations (DSM)]. J Neuroradiol 34:145–166PubMedCrossRefGoogle Scholar
  69. Parisi MA (2009) Clinical and molecular features of Joubert syndrome and related disorders. Am J Med Genet C Semin Med Genet 15:326–340Google Scholar
  70. Parisi MA, Dobyns WB (2003) Human malformations of the midbrain and hindbrain: review and proposed classification scheme. Mol Genet Metab 80:36–53PubMedCrossRefGoogle Scholar
  71. Pasquier L, Marcorelles P, Loget P, Pelluard F, Carles D, Perez MJ, Bendavid C, de La Rochebrochard C, Ferry M, David V, Odent S, Laquerrière A (2009) Rhombencephalosynapsis and related anomalies: a neuropathological study of 40 fetal cases. Acta Neuropathol 117:185–200PubMedCrossRefGoogle Scholar
  72. Patel S, Barkovich AJ (2002) Analysis and classification of ­cerebellar malformations. AJNR Am J Neuroradiol 23:1074–1087PubMedGoogle Scholar
  73. Pavone L, Corsello G, Pavone P, Iannetti P (2010) Lissencephalic syndromes: brain and beyond. Front Biosci 2:85–95CrossRefGoogle Scholar
  74. Perkins L, Hughes E, Srinivasan L, Allsop J, Glover A, Kumar S, Fisk N, Rutherford M (2008) Exploring cortical subplate evolution using magnetic resonance imaging of the fetal brain. Dev Neurosci 30:211–220PubMedCrossRefGoogle Scholar
  75. Pilu G, Falco P, Gabrielli S, Perolo A, Sandri F, Bovicelli L (1999) The clinical significance of fetal isolated cerebral borderline ventriculomegaly: report of 31 cases and review of the literature. Ultrasound Obstet Gynecol 14:320–326PubMedCrossRefGoogle Scholar
  76. Poretti A, Huisman TA, Cowan FM, Del Giudice E J, Jeannet PY, Prayer D, Rutherford MA, du Plessis AJ, Limperopoulos C, Boltshauser E (2009) Cerebellar cleft:confirmation of the neuroimaging pattern. Neuropediatrics 40:228–233PubMedCrossRefGoogle Scholar
  77. Prayer D, Barkovich AJ, Kirschner DA, Prayer LM, Roberts TP, Kucharczyk J, Moseley ME (2001) Visualization of nonstructural changes in early white matter development on diffusion-weighted MR images: evidence supporting premyelination anisotropy. AJNR Am J Neuroradiol 22: 1572–1576Google Scholar
  78. Prayer D, Kasprian G, Krampl E, Ulm B, Witzani L, Prayer L, Brugger PC (2006) MRI of normal fetal brain development. Eur J Radiol 57:199–216PubMedCrossRefGoogle Scholar
  79. Rankin J, Cans C, Garne E, Colver A, Dolk H, Uldall P, Amar E, Krageloh-Mann I (2010) Congenital anomalies in children with cerebral palsy: a population-based record linkage study. Dev Med Child Neurol 52:345–351PubMedCrossRefGoogle Scholar
  80. Raybaud C (2010) The corpus callosum, the other great ­forebrain commissures, and the septum pellucidum: anatomy, development, and malformation. Neuroradiology 52:447–477PubMedCrossRefGoogle Scholar
  81. Raybaud C, Di Rocco C (2007) Brain malformation in syndromic craniosynostoses, a primary disorder of white matter: a review. Childs Nerv Syst 23:1379–1388PubMedCrossRefGoogle Scholar
  82. Richards LJ, Plachez C, Ren T (2004) Mechanisms regulating the development of the corpus callosum and its agenesis in mouse and human. Clin Genet 66:276–289PubMedCrossRefGoogle Scholar
  83. Righini A, Fiori L, Parazzini C, Doneda C, Arrigoni F, Riva E, Triulzi F (2010) Early prenatal magnetic resonance imaging of glutaric aciduria type 1: case report. J Comput Assist Tomogr 34:446–448PubMedCrossRefGoogle Scholar
  84. Rorke LB, Fogelson MH, Riggs HE (1968) Cerebellar heterotopia in infancy. Dev Med Child Neurol 10:644–650PubMedCrossRefGoogle Scholar
  85. Ross ME, Swanson K, Dobyns WB (2001) Lissencephaly with cerebellar hypoplasia (LCH): a heterogeneous group of cortical malformations. Neuropediatrics 32:256–263PubMedCrossRefGoogle Scholar
  86. Saito K (2006) Prenatal diagnosis of Fukuyama congenital muscular dystrophy. Prenat Diagn 26:415–417PubMedCrossRefGoogle Scholar
  87. Saleem SN, Zaki MS (2010) Role of MR imaging in prenatal diagnosis of pregnancies at risk for Joubert syndrome and related cerebellar disorders. AJNR Am J Neuroradiol 31:424–429PubMedCrossRefGoogle Scholar
  88. Saleem SN, Said AH, Abdel-Raouf M, El-Kattan EA, Zaki MS, Madkour N, Shokry M (2009) Fetal MRI in the evaluation of fetuses referred for sonographically suspected neural tube defects (NTDs): impact on diagnosis and management decision. Neuroradiology 51:761–772PubMedCrossRefGoogle Scholar
  89. Schell-Apacik CC, Wagner K, Bihler M, Ertl-Wagner B, Heinrich U, Klopocki E, Kalscheuer VM, Muenke M, von Voss H (2008) Agenesis and dysgenesis of the corpus callosum: clinical, genetic and neuroimaging findings in a series of 41 patients. Am J Med Genet A 146A:2501–2511PubMedCrossRefGoogle Scholar
  90. Schmook MT, Brugger PC, Weber M, Kasprian G, Nemec S, Krampl-Bettelheim E, Prayer D (2010) Forebrain development in fetal MRI: evaluation of anatomical landmarks before gestational week 27. Neuroradiology 52:495–504PubMedCrossRefGoogle Scholar
  91. Schrander-Stumpel C, Vos YJ (2004, updated 2006) L1 syndrome. In: Pagon RA, Bird TC, Dolan CR, Stephens K (eds) Genereviews. University of Washington, SeattleGoogle Scholar
  92. Schumacher GH (2004) Teratology in cultural documents and today. Ann Anat 186:539–546PubMedCrossRefGoogle Scholar
  93. Senat MV, Bernard JP, Delezoide A, Saugier-Veber P, Hillion Y, Roume J, Ville Y (2001) Prenatal diagnosis of hydrocephalus-stenosis of the aqueduct of Sylvius by ultrasound in the first trimester of pregnancy. Report of two cases. Prenat Diagn 21:1129–1132PubMedCrossRefGoogle Scholar
  94. Simioli S, Napolitano R, Quaglia F, Mazzarelli LL, Agangi A, Milanes GM, Tessitore G, Iannaccone A, Maruotti GM, Martinelli P (2009) Fetal borderline cerebral ventriculomegaly: clinical significance and management. Minerva Ginecol 61:109–112PubMedGoogle Scholar
  95. Slavotinek AM (2004) Fryns syndrome: a review of the phenotype and diagnostic guidelines. Am J Med Genet A 124A:427–433PubMedCrossRefGoogle Scholar
  96. Sommer IE, Smit LM (1997) Congenital supratentorial arachnoidal and giant cysts in children: a clinical study with arguments for a conservative approach. Childs Nerv Syst 13:8–12PubMedCrossRefGoogle Scholar
  97. Soto-Ares G, Delmaire C, Deries B, Vallee L, Pruvo JP (2000) Cerebellar cortical dysplasia: MR findings in a complex entity. AJNR Am J Neuroradiol 21:1511–1519PubMedGoogle Scholar
  98. Spadoni AD, McGee CL, Fryer SL, Riley EP (2007) Neuroimaging and fetal alcohol spectrum disorders. Neurosci Biobehav Rev 31:239–245PubMedCrossRefGoogle Scholar
  99. Spampinato MV, Kraas J, Maria BL, Walton ZJ, Rumboldt Z (2008) Absence of decussation of the superior cerebellar peduncles in patients with Joubert syndrome. Am J Med Genet A 146:1389–1394Google Scholar
  100. Starkman SP, Brown TC, Linell EA (1958) Cerebral arachnoid cysts. J Neuropathol Exp Neurol 17:484–500PubMedCrossRefGoogle Scholar
  101. Takanashi J, Arai H, Nabatame S, Hirai S, Hayashi S, Inazawa J, Okamoto N, Barkovich AJ (2010) Neuroradiologic Features of CASK Mutations. AJNR Am J Neuroradiol 31:1619–1622PubMedCrossRefGoogle Scholar
  102. ten Donkelaar HJ, Wesseling P, Semmekrot BA, Liem KD, Tuerlings J, Cruysberg JR, de Wit PE (1999) Severe, non X-linked congenital microcephaly with absence of the pyramidal tracts in two siblings. Acta Neuropathol 98:203–211PubMedCrossRefGoogle Scholar
  103. ten Donkelaar HJ, Lammens M, Wesseling P, Thijssen HO, Renier WO (2003) Development and developmental disorders of the human cerebellum. J Neurol 250: 1025–1036PubMedCrossRefGoogle Scholar
  104. ten Donkelaar HJ, Lammens M, Wesseling P, Hori A, Keyser A, Rotteveel J (2004) Development and malformations of the human pyramidal tract. J Neurol 251:1429–1442PubMedCrossRefGoogle Scholar
  105. Tilea B, Delezoide AL, Khung-Savatovski S, Guimiot F, Vuillard E, Oury JF, Garel C (2007) Comparison between magnetic resonance imaging and fetopathology in the evaluation of fetal posterior fossa non-cystic abnormalities. Ultrasound Obstet Gynecol 29:651–659PubMedCrossRefGoogle Scholar
  106. Tilea B, Alberti C, Adamsbaum C, Armoogum P, Oury JFCD, Sebag G, Kalifa G, Garel C (2009) Cerebral biometry in fetal magnetic resonance imaging: new reference data. Ultrasound Obstet Gynecol 33:173–181PubMedCrossRefGoogle Scholar
  107. Tortori-Donati P (2005) Pediatric neuroradiology. Springer, Berlin/Heidelberg/New YorkCrossRefGoogle Scholar
  108. Utsunomiya H, Takano K, Ogasawara T, Hashimoto T, Fukushima T, Okazaki M (1998) Rhombencephalosynapsis: cerebellar embryogenesis. AJNR Am J Neuroradiol 19:547–549PubMedGoogle Scholar
  109. Utsunomiya H, Yamashita S, Takano K, Okazaki M (2006a) Arrangement of fiber tracts forming Probst bundle in complete callosal agenesis: report of two cases with an evaluation by diffusion tensor tractography. Acta Radiol 47:1063–1066PubMedCrossRefGoogle Scholar
  110. Utsunomiya H, Yamashita S, Takano K, Ueda Y, Fujii A (2006b) Midline cystic malformations of the brain: imaging diagnosis and classification based on embryologic analysis. Radiat Med 24:471–481PubMedCrossRefGoogle Scholar
  111. van de Kamp JM, Lefeber DJ, Ruijter GJ, Steggerda SJ, den Hollander NS, Willems SM, Matthijs G, Poorthuis BJ, Wevers RA (2007) Congenital disorder of glycosylation type Ia presenting with hydrops fetalis. J Med Genet 44:277–280PubMedCrossRefGoogle Scholar
  112. Vilain C, Mortier G, Van Vliet G, Dubourg C, Heinrichs C, de Silva D, Verloes A, Baumann C (2009) Hartsfield holoprosencephaly-ectrodactyly syndrome in five male patients: further delineation and review. Am J Med Genet A 149A:1476–1481PubMedCrossRefGoogle Scholar
  113. Volpe P, Campobasso G, De Robertis V, Rembouskos G (2009) Disorders of prosencephalic development. Prenat Diagn 29:340–354PubMedCrossRefGoogle Scholar
  114. Wagner C, Batiz LF, Rodríguez S, Jiménez AJ, Páez P, Tomé M, Pérez-Fígares JM, Rodríguez EM (2003) Cellular mechanisms involved in the stenosis and obliteration of the cerebral aqueduct of hyh mutant mice developing congenital hydrocephalus. J Neuropathol Exp Neurol 62:1019–1040PubMedGoogle Scholar
  115. Wahl M, Strominger Z, Jeremy RJ, Barkovich AJ, Wakahiro M, Sherr EH, Mukherjee P (2009) Variability of homotopic and heterotopic callosal connectivity in partial agenesis of the corpus callosum: a 3T diffusion tensor imaging and Q-ball tractography study. AJNR Am J Neuroradiol 30: 282–289PubMedCrossRefGoogle Scholar
  116. Widjaja E, Blaser S, Miller E, Kassner A, Shannon P, Chuang SH, Snead OC 3rd, Raybaud CR (2007) Evaluation of subcortical white matter and deep white matter tractsin malformations of cortical development. Epilepsia 48:1460–1469PubMedCrossRefGoogle Scholar
  117. Widjaja E, Geibprasert S, Blaser S, Rayner T, Shannon P (2009) Abnormal fetal cerebral laminar organization in cobblestone complex as seen on post-mortem MRI and DTI. Pediatr Radiol 39:860–864PubMedCrossRefGoogle Scholar
  118. Widjaja E, Geibprasert S, Mahmoodabadi SZ, Blaser S, Brown NE, Shannon P (2010a) Alteration of human fetal subplate layer and intermediate zone during normal development on MR and diffusion tensor imaging. AJNR Am J Neuroradiol 31:1091–1099PubMedCrossRefGoogle Scholar
  119. Widjaja E, Geibprasert S, Mahmoodabadi SZ, Brown NE, P S (2010b) Corroboration of Normal and Abnormal Fetal Cerebral Lamination on Postmortem MR Imaging with Postmortem Examination. Am J Neuroradiol [Epub ahead of print]Google Scholar
  120. Winter TC, Kennedy AM, Byrne J, Woodward PJ (2010) The cavum septi pellucidi: why is it important? J Ultrasound Med 29:427–444PubMedGoogle Scholar
  121. Zalel Y, Yagel S, Achiron R, Kivilevich Z, Gindes L (2009) Three-dimensional ultrasonography of the fetal vermis at 18 to 26 weeks’ gestation: time of appearance of the primary fissure. J Ultrasound Med 28:1–8PubMedGoogle Scholar

Copyright information

© Springer-Verlag Berlin Heidelberg 2010

Authors and Affiliations

  • Daniela Prayer
    • 1
  • Peter C. Brugger
    • 2
  • Ursula Nemec
    • 1
  • Ruxandra Iulia Milos
    • 1
  • Christian Mitter
    • 1
  • Gregor Kasprian
    • 1
  1. 1.Division of Neuroradiology and Musculokeletal Radiology, Department of RadiologyMedical University ViennaViennaAustria
  2. 2.Center of Anatomy and Cell BiologyMedical University of ViennaViennaAustria

Personalised recommendations