Skip to main content

Pathology of the Midline

  • Chapter

Abstract

Corpus callosum agenesis (CCA) is a relatively frequent malformation. Its exact prevalence in the population is still unknown, as CCA can be completely asymptomatic. This prevalence essentially depends on the population studied and the diagnostic method used and varies between 0.3 % and 0.7 % in the general population (diagnosis by encephalography [1], and hence on selected cases). It reaches 2%–3% for patients showing mental retardation (diagnosis by computed tomography [2]). CCA accounts for 3%– 5 % of all nervous system malformations detected by antenatal ultrasonography (US) and for approximately 50 % of all malformations of the midline [3].

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

Buying options

Chapter
USD   29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD   84.99
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD   109.99
Price excludes VAT (USA)
  • Compact, lightweight 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

Learn about institutional subscriptions

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  1. Grogono JL (1968) Children with agenesis of corpus callosum. Dev Med Child Neurol 10:613–616

    Article  PubMed  CAS  Google Scholar 

  2. Jeret JS, Serur D, Wisniewski K, Fish C (1985) Frequency of agenesis of corpus callosum in the developmentally disabled population as determined by computerized tomography. Pediatr Neurosci 12:101–105

    Article  PubMed  Google Scholar 

  3. Couture A, Droullé P, Didier F (1994) Les malformations cérébrales. In: Couture A, Veyrac C, Baud C (eds) Echographie cérébrale du fœtus au nouveau-né. Sauramps Médical, Montpellier, pp 267–370

    Google Scholar 

  4. Destrieux C, Velut S, Kakou M (1998) I. Anatomie. A. Développement du corps calleux. Neurochirurgie 44 [Suppl 1]: 11–16

    PubMed  CAS  Google Scholar 

  5. Barkovich AJ (2000) Congenital malformations of the brain and skull in pediatric neuroimaging. Lippincott Williams & Wilkins, pp 251–381

    Google Scholar 

  6. Sarnat HB (2001) Congenital malformations of the nervous system. A. Neuropathologic perspective. Neuroimaging Clin N Am 11:57–77

    Google Scholar 

  7. Gelot A, Lewin F, Moraine C, Pompidou A (1998) Agénésies du corps calleux: étude neuropathologique et hypothèses physiopathologiques. Neurochirurgie 44 [Suppl 1]:74–78

    PubMed  CAS  Google Scholar 

  8. Paupe A, Bidat L, Sonigo P, Lenclen R, Molho M, Ville Y (2002) Prenatal diagnosis of hypoplasia of the corpus callosum in association with non-ketotic hyperglycinemia. Ultrasound Obstet Gynecol 20:616–619

    Article  PubMed  CAS  Google Scholar 

  9. Malinger G, Zakut H (1993) The corpus callosum: normal fetal development as shown by transvaginal sonography. AJR 161:1041–1043

    PubMed  CAS  Google Scholar 

  10. Maheut-Lourmière J, Paillet C (1998) Agénésie et hypopla-sie. A. Diagnostic prénatal des anomalies du corps calleux par les ultrasons: le point de vue de l’échographiste. Neurochirurgie 44 [Suppl 1]:85–92

    PubMed  Google Scholar 

  11. Chouchane M, Benouachkou-Debuche V, Giroud M, Durand C, Gouyon JB (1999) Les agénésies du corps calleux: aspects étiologiques, cliniques, moyens de diagnostic et pronostic. Arch Pédiatr 6:1306–1311

    Article  PubMed  CAS  Google Scholar 

  12. Pilu G, Sandri F, Perolo A, Pittalis MC, Grisolia G, Cocchi G, Foschini MP, Salvioli GP, Bovicelli L (1993) Sonography of fetal agenesis of the corpus callosum: a survey of 35 cases. Ultrasound Obstet Gynecol 3:318–329

    Article  PubMed  CAS  Google Scholar 

  13. D’Ercole C, Girard N, Cravello L, Boubli L, Potier A, Raybaud C, Blanc B (1998) Prenatal diagnosis of fetal corpus callosum agenesis by ultrasound and magnetic resonance imaging. Prenat Diagn 18:247–253

    Article  PubMed  Google Scholar 

  14. Rapp B, Perrotin F, Marret H, Sembely-Taveau C, Lansac J, Body G (2002) Intérêt de l’IRM cérébrale fœtale pour le diagnostic et le pronostic prénatal des agénésies du corps calleux. J Gynecol Obstet Biol Reprod 31:173–182

    CAS  Google Scholar 

  15. Brisse H, Sebag G, Fallet C, Elmaleh M, Garel C, Rossler L, Vuillard E, Oury JF, Hassan M (1998) IRM anténatale des agénésies calleuses. Etude de 20 cas avec corrélations neuropathologiques. J Radiol 79:659–666

    PubMed  CAS  Google Scholar 

  16. Girard N, Raybaud C, D’Ercole C, Boubli L, Chau C, Cahen S, Potier A, Gamerre M (1993) In vivo MRI of the fetal brain. Neuroradiology 35:431–436

    Article  PubMed  CAS  Google Scholar 

  17. Yuh WTC, Nguyen HD, Fisher DJ, Tali ET, Gao F, Simonson TM, Kao SCS, Weiner CP (1994) MR of fetal central nervous system abnormalities. AJNR Am J Neuroradiol 15:459–464

    PubMed  CAS  Google Scholar 

  18. Resta M, Spagnolo P, Dicuonzo F, Palma M, Florio C, Greco P, D’Addario V, Vimercati A, Selvaggi L, Caruso G, Clemente R (1994) La risonanza magnetica del feto. Parte I: Tecnica d’esame ed anatomia normale dell’encefalo. Rivista di Neuroradiologia 7:53–65

    Google Scholar 

  19. Levine D, Barnes PD, Madsen JR, Li W, Edelman RR (1997) Fetal central nervous system anomalies: MR imaging augments sonographic diagnosis. Radiology 204:635–642

    PubMed  CAS  Google Scholar 

  20. Gupta JK, Lilford RJ (1995) Assessment and management of fetal agenesis of the corpus callosum. Prenat Diagn 15:301–312

    Article  PubMed  CAS  Google Scholar 

  21. Parrish ML, Roessman U, Levinshon MW (1979) Agenesis of the corpus callosum: a study of the frequency of associated malformations. Ann Neurol 6:349–354

    Article  PubMed  CAS  Google Scholar 

  22. Talmant C, Yvinec M, Nomballais MF, Aubron F, David A, Rival JM, Wetzel M et les membres du Collège FranDçais d’Echographie Foetale (1995) Agénésie du corps calleux: pronostic. Médecine Fœtale et Echographie Fœtale en Gynécologie 24:10–18

    Google Scholar 

  23. Mestdagh P, Daire JL, Elmaleh M, Garel C, Claude I, Robert Y, Hassan M, Sebag G (2002) Quantitative growth of the brainstem: a semiautomated MR study in fetuses. J Neuroradiol 29:1S225–1S233

    Google Scholar 

  24. Garel C, Chantrel E, Sebag G, Brisse H, Elmaleh M, Hassan M (2000) Le Développement du cerveau fœtal. Atlas IRM et biométrie. Sauramps Médical, Montpellier

    Google Scholar 

  25. Garel C, Chantrel E, Brisse H, Elmaleh M, Luton D, Oury JF, Sebag G, Hassan M (2001) Fetal cerebral cortex: normal gestational landmarks identified using prenatal MR Imaging. AJNR Am J Neuroradiol 22:184–189

    PubMed  CAS  Google Scholar 

  26. Byrd SE, Radkowski MA, Flannery A, Mc Lone DG (1990) The clinical and radiological evaluation of the corpus callosum. Eur J Radiol 10:65–73

    Article  PubMed  CAS  Google Scholar 

  27. Doffe L, Adamsbaum C, Rolland Y, Robain O, Ponsot G, Kalifa G (1996) Agénésie du corps calleux et kyste interhémisphérique paramédian. J Radiol 77:427–430

    PubMed  CAS  Google Scholar 

  28. Uematsu Y, Kubo K, Nishibayashi T, Ozaki F, Nakai K, Itakura T (2000) Interhemispheric neuroepithelial cyst associated with agenesis of the corpus callosum. Pediatr Neurosurg 33:31–36

    Article  PubMed  CAS  Google Scholar 

  29. Barkovich AJ, Simon EM, Walsh CA (2001) Callosal agenesis with cyst. A better understanding and new classification. Neurology 56:220–227

    Article  PubMed  CAS  Google Scholar 

  30. Lacey DJ (1985) Agenesis of the corpus callosum. Clinical features in 40 children. Am J Dis Child 139:953–955

    PubMed  CAS  Google Scholar 

  31. Marszal E, Jamroz E, Pilch J, Kluczewska E, Jablecka-Deja H, Krawczyk R (2000) Agenesis of corpus callosum: clinical description and etiology. J Child Neurol 15:401–405

    Article  PubMed  CAS  Google Scholar 

  32. Goodyear PWA, Bannister CM, Russell S, Rimmer S (2001) Outcome in prenatally diagnosed fetal agenesis of the corpus callosum. Fetal Diagn Ther 16:139–145

    Article  PubMed  CAS  Google Scholar 

  33. Descamps P, Lewin F, Body G, Moutard ML, et les membres du Club Francophone de Médecine Fœtale (1998) Agénésie et hypoplasie. B. Prise en charge obstétricale des agénésies du corps calleux. Neurochirurgie 44 [Suppl 1]:93–95

    Google Scholar 

  34. Moutard ML, Lewin F, Baron JM, Kieffer V, Descamps P et les membres du Club Francophone de Médecine Fœtale. Agénésie et hypoplasie. C. Pronostic des agénésies isolées du corps calleux. Neurochirurgie 44 [Suppl 1]:96–98

    Google Scholar 

  35. Droullé P, André M (1995) Pronostic de l’agénésie calleuse. Med Fœtale Echogr Gynecol 24:22–25

    Google Scholar 

  36. Vergani P, Ghidini A, Strobelt N, Locatelli A, Mariani S, Bertalero C, Cavallone M (1994) Prognostic indicators in the prenatal diagnosis of agenesis of corpus callosum. Am J Obstet Gynecol 170:753–758

    PubMed  CAS  Google Scholar 

  37. Griebel ML, Williams JP, Russel SS, Spence GT, Glasier CM (1995) Clinical and developmental findings in children with giant interhemispheric cysts and dysgenesis of the corpus callosum. Pediatr Neurol 13:119–124

    Article  PubMed  CAS  Google Scholar 

  38. Rypens F, Sonigo P, Aubry MC, Delezoide AL, Cessot F, Brunelle F (1996) Prenatal MR diagnosis of a thick corpus callosum. AJNR Am J Neuroradiol 17:1918–1920

    PubMed  CAS  Google Scholar 

  39. Bork MD, Smeltzer JS, Egan JF, Rodis JF, DiMario FJ Jr, Campbell WA (1996) Prenatal diagnosis of intracranial lipoma associated with agenesis of the corpus callosum. Obstet Gynecol 87:845–848

    PubMed  CAS  Google Scholar 

  40. Ickowitz V, Eurin D, Rypens F, Sonigo P, Simon I, David P, Brunelle F, Avni FE (2001) Prenatal diagnosis and postnatal follow-up of pericallosal lipoma: report of seven new cases. AJNR Am J Neuroradiol 22:767–772

    PubMed  CAS  Google Scholar 

  41. FranDçois P (1998) Lipome du corps calleux. Neurochirurgie 44 [Suppl 1]:125–126

    Google Scholar 

  42. Bullen PJ, Rankin JM, Robson SC (2001) Investigation of the epidemiology and prenatal diagnosis of holoprosencephaly in the North of England. Am J Obstet Gynecol 184:1256–1262

    Article  PubMed  CAS  Google Scholar 

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

    Article  PubMed  CAS  Google Scholar 

  44. 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 

  45. Parant O, Sarramon MF, Delisle MB, Fournié A (1997) Diagnostic anténatal de l’holoprosencéphalie. A propos d’une série de 12 cas. J Gynecol Obstet Biol Reprod 26:687–696

    CAS  Google Scholar 

  46. Delezoide AL, Narcy F, Larroche JC (1990) Cerebral midline developmental anomalies: spectrum and associated features. Genet Couns 1:197–210

    PubMed  CAS  Google Scholar 

  47. Lai TH, Chang CH, Yu CH, Kuo PL, Chang FM (2000) Prenatal diagnosis of alobar holoprosencephaly by two-dimensional and three-dimensional ultrasound. Prenat Diagn 20:400–403

    Article  PubMed  CAS  Google Scholar 

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

    PubMed  CAS  Google Scholar 

  49. Marcorelles P, Loget P, Fallet-Bianco C, Roume J, Encha-Razavi F, Delezoide AL (2002) Unusual variant of holoprosencephaly in monosomy 13q. Pediatr Dev Pathol 5:170–178

    Article  PubMed  Google Scholar 

  50. Odent S, Bona C, Le Marec B (1996) Holoprosencéphalie: chromosomique, syndromique ou isolée? In: Briard ML, Dumez Y, Nioul-Fekete C (eds) 15e Séminaire de diagnostic prénatal et de médecine fœtale (Hdôpital des Enfants Malades). Paris, pp 59–62

    Google Scholar 

  51. Odent S, Le Marec B, Munnich A, Le Merrer M, Bona-Pellié C. Segregation analysis in nonsyndromic holoprosencephaly. Am J Med Genet 1998; 77:139–143.

    Article  PubMed  CAS  Google Scholar 

  52. Odent S, Attié-Bitach T, Blayau M, Mathieu M, Augé J, Delezo AL, Le Gall JY, Le Marec B, Munnich A, David V, Vekemans M (1999) Expression of the sonic hedgehog SHH) gene during early human development and phenotypic expression of new mutations causing holoprosencephaly. Hum Mol Genet 8:1683–1689

    Article  PubMed  CAS  Google Scholar 

  53. Peebles DM (1998) Holoprosencephaly. Prenat Diagn 18: 477–480

    Article  PubMed  CAS  Google Scholar 

  54. Toma P, Costa A, Magnano GM, Cariati M, Lituania M (1990) Holoprosencephaly: prenatal diagnosis by sonography and magnetic resonance imaging. Prenat Diagn 10: 429–436

    Article  PubMed  CAS  Google Scholar 

  55. Garel C, Léger J, Legrand I, Stempfle N, Maiza D, Czernichow P, Hassan M (1995) Aspect IRM des hypernatrémies neurogènes. Rev Im Med 7:29–32

    Google Scholar 

  56. Barkovich AJ, Norman D (1989) Absence of the septum pellucidum: a useful sign in the diagnosis of congenital brain malformations. AJR 152:353–360

    PubMed  CAS  Google Scholar 

  57. Brodsky MC, Glasier CM (1993) Optic nerve hypoplasia. Clinical significance of associated central nervous system abnormalities on magnetic resonance imaging. Arch Ophtalmol 111:66–74

    Article  CAS  Google Scholar 

  58. Thomas PQ, Dattani MT, Brickman JM, McNay D, Warne G, Zacharin M, Cameron F, Hurst J, Woods K, Dunger D, Stanhope R, Forrest S, Robinson IC, Beddington RS (2001) Heterozygous HESX1 mutations associated with isolated congenital pituitary hypoplasia and septo-optic dysplasia. Hum Mol Genet 10:39–45

    Article  PubMed  CAS  Google Scholar 

  59. Brickman JM, Clements M, Tyrell R, McNay D, Woods K, Warner J, Stewart A, Beddington RS, Dattani M (2001) Molecular effects of novel mutations in Hesx1/HESX1 associated with human pituitary disorders. Development 128:5189–5199

    PubMed  CAS  Google Scholar 

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

    PubMed  CAS  Google Scholar 

  61. Willnow S, Kiess W, Butenandt O, Dörr HG, Enders A, Strasser-Vogel B, Egger J, Schwarz HP (1996) Endocrine disorders in septo-optic dysplasia (de Morsier’s syndrome): evaluation and follow-up of 18 patients. Eur J Pediatr 155:179–184

    Article  PubMed  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Rights and permissions

Reprints and permissions

Copyright information

© 2004 Springer-Verlag Berlin Heidelberg

About this chapter

Cite this chapter

Garel, C. (2004). Pathology of the Midline. In: MRI of the Fetal Brain. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-18747-6_9

Download citation

  • DOI: https://doi.org/10.1007/978-3-642-18747-6_9

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-642-62275-5

  • Online ISBN: 978-3-642-18747-6

  • eBook Packages: Springer Book Archive

Publish with us

Policies and ethics