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Abstract

Schizencephaly is a rare congenital brain malformation characterized by deep clefts of the cerebral mantle that extend from the cortical surface to the lateral ventricles. The conditions are often associated with convolutional anomalies such as polymicrogyria or nodular subependymal heterotopias.

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References

  1. Aniskiewicz AS, Frumkin NL, Brady DE, et al.: Magnetic resonance imaging and neurobehavioral correlates in schinzencephaly. Arch Neurol 47:911–916, 1990.

    CAS  PubMed  Google Scholar 

  2. Barkovich AJ, Kjos BO: Schizencephaly: correlation of clinical findings with MR characteristics. Am J Neuroradiol 13:85–94, 1992.

    CAS  PubMed  Google Scholar 

  3. Barkovich AJ, Kuzniecky RI, Jackson GD, et al.: Classification system for malformations of cortical development. Update 2001. Neurology 57:2168, 2001.

    CAS  PubMed  Google Scholar 

  4. Brunelli S, Faiella A, Capra V, et al.: Germline mutations in the homeobox gene EMX2 in patients with severe schizencephaly. Nature Genet 12:94–96, 1996.

    Article  CAS  PubMed  Google Scholar 

  5. Byrd SE, Osborn RE, Bohan TP, et al.: The CT and MR evaluation of Migrational disorders of the brain. Part I. Lissencephaly and pachygyria. Pediatr Radiology 19:151–156, 1989.

    Article  CAS  Google Scholar 

  6. Capra V, De Marco P, Moroni A, et al.: Schizencephaly: Surgical features and new molecular genetic results. Eur J Pediatr Surg 6(Suppl 1):27–29, 1996.

    PubMed  Google Scholar 

  7. Ceccherini AF, Twining P, Variend S: Schizencephaly: antenatal detection using ultrasound. Clin Radiol 54:620–622, 1999.

    Article  CAS  PubMed  Google Scholar 

  8. Chamberlain MC, Press GA, Bejar RF: Neonatal schizencephaly: comparison of brain imaging. Pediatr Neurol 6:382–387, 1990.

    Article  CAS  PubMed  Google Scholar 

  9. Denis D, Maugey-Laulom B, Carles D, et al.: Prenatal diagnosis of schizencephaly by fetal magnetic resonance imaging. Fetal Diagn Ther 16:354–359, 2001.

    Article  CAS  PubMed  Google Scholar 

  10. Denis D, Chateil JF, Brun M, et al.: Schizencephaly: clinical and imaging features in 30 infantile cases. Brain Dev 22:475–483, 2000.

    Article  CAS  PubMed  Google Scholar 

  11. Faiella A, Brunelli S, Granata T, et al.: A number of schizencephaly patients including 2 brothers are heterozygous for germline mutations in the homeobox gene EMX2. Eur J Hum Genet 5:186–190, 1997.

    CAS  PubMed  Google Scholar 

  12. Granata T, Battaglia G, D’Incerti L, et al.: Schizencephaly: neuroradiologic and epileptologic findings. Epilepsia 37:1185–1193, 1996.

    Article  CAS  PubMed  Google Scholar 

  13. Granata T, Farina L, Faiella A, et al.: Familial schizencephaly associated with EMX2 mutation. Neurology 48:1404–1406, 1997.

    Google Scholar 

  14. Herman M, Rico S: Schizencephaly: Presentation in a 6-week-old boy with fetal death of co-twin. Int Pediatr 14:32–34, 1999.

    Google Scholar 

  15. Haverkamp F, Zerres K, Ostertun B, et al.: Familial schizencephaly: further delineation of a rare disorder. J Med Genet 32:242–244, 1995.

    Article  CAS  PubMed  Google Scholar 

  16. Hayashi N, Tsutsumi Y, Barkovich AJ: Morphological features and associated anomalies of schizencephaly in the clinical population: detailed analysis of MR images. Neuroradiology 44:418–427, 2002.

    Article  CAS  PubMed  Google Scholar 

  17. Hilburger AC, Willis JK, Bouldin F, et al.: Familial schizencephaly. Brain Dev 15:234–236, 1993.

    Article  CAS  PubMed  Google Scholar 

  18. Hosley MA, Abroms IF, Ragland RL: Schizencephaly: Case report of familial incidence. Pediatr Neurol 8:148–150, 1991.

    Article  Google Scholar 

  19. Klingensmith WC III, Cioffi-Ragan DT: Schizencephaly: Diagnosis and progression in utero. Radiology 159:617–618, 1986.

    PubMed  Google Scholar 

  20. Komarniski CA, Cyr DR, Mack LA, et al.: Prenatal diagnosis of schizencephaly. J Ultrasound Med 9:305–307, 1990.

    CAS  PubMed  Google Scholar 

  21. Kuban KC, Teele RL, Wallman J: Septo-optic-dysplasia-schizencephaly. Radiographic and clinical features. Pediatr Radiol 19:145–150, 1989.

    Article  CAS  PubMed  Google Scholar 

  22. Landrieu P, Lacroix C: Schizencephaly, consequence of a developmental vasculopathy? A clinicopathological report. Clin Neuropathol 13:192–196, 1994.

    CAS  PubMed  Google Scholar 

  23. Lituania M, Passamonti U, Cordono MS, et al.: Schizencephaly: prenatal diagnosis by computed sonography and magnetic resonance imaging. Prenat Diagn 9:649–655, 1989.

    Article  CAS  PubMed  Google Scholar 

  24. Lubinsky MS: Hypothesis: septo-optic dysplasia is a vascular disruption sequence. Am J Med Genet 69:235–236, 1997.

    Article  CAS  PubMed  Google Scholar 

  25. Miller SP, Shevell MI, Patenaude Y, et al.: Septo-optic plus: A spectrum of malformations of cortical development. Neurology 54:1701–1703, 2000.

    CAS  PubMed  Google Scholar 

  26. Miller GM, Stears IC, Cuggenheim MA, et al.: The clinical and computerized tomographic spectrum of schinzencephaly in six patients. Neurology 32:A218–219, 1982.

    Google Scholar 

  27. Miller GM, Stears IC, Cuggenheim MA, et al.: Schizencephaly: a clinical and CT study. Neurology 34:997–1001, 1984.

    CAS  PubMed  Google Scholar 

  28. Packard AM, Miller VS, Delgado MR: Schizencephaly: Correlations of clinical and radiologic features. Neurology 48:1427–1434, 1997.

    CAS  PubMed  Google Scholar 

  29. Pilu GL, Falco P, Perolo A, et al.: Differential diagnosis and outcome of fetal intracranial hypoechoic lesions: report of 21 cases. Ultrasound Obstet Gynecol 9:229–236, 1997.

    Article  CAS  PubMed  Google Scholar 

  30. Robinson RO: Familial schizencephaly. Dev Med Child Neurol 33:1010–1012, 1991.

    Article  CAS  PubMed  Google Scholar 

  31. Yakovlev PI, Wadsworth RC: Schizencephalies. A study of the congenital clefts in the cerebral mantle. I. Clefts with fused lips. J Neuropathol Exp Neurol 5:116–130, 1946.

    Google Scholar 

  32. Yakovlev PI, Wadsworth RC: Schizencephalies. A study of the congenital clefts in the cerebral mantle. II. Clefts with hydrocephalus and lips separated. J Neuropathol Exp Neurol 5:169–206, 1946.

    Google Scholar 

  33. Yoshida M, Suda Y, Matsuo I, et al.: Emx1 and Emx2 functions in development of dorsal telencephalon. Development 124:101–110, 1997.

    CAS  PubMed  Google Scholar 

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© 2006 Humana Press Inc.

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(2006). Schizencephaly. In: Atlas of Genetic Diagnosis and Counseling. Humana Press. https://doi.org/10.1007/978-1-60327-161-5_163

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  • DOI: https://doi.org/10.1007/978-1-60327-161-5_163

  • Publisher Name: Humana Press

  • Print ISBN: 978-1-58829-681-8

  • Online ISBN: 978-1-60327-161-5

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