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Schizencephaly

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Atlas of Genetic Diagnosis and Counseling

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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. Large portions of the cerebral hemispheres may be missing and are replaced by cerebrospinal fluid (Capra et al. 1996). The walls of the clefts are lined by polymicrogyric grey matter and are covered by the so-called pialependymal seam. The cleft may be unilateral or bilateral and if bilateral are fairly symmetrical. Their dimensions can be small or large. The clinical features may vary from a normal to a severe development delay. The conditions are often associated with convolutional anomalies such as polymicrogyria or nodular subependymal heterotopias.

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References

  • Aniskiewicz, A. S., Frumkin, N. L., Brady, D. E., et al. (1990). Magnetic resonance imaging and neurobehavioral correlates in schinzencephaly. Archives of Neurology, 47, 911–916.

    Article  CAS  PubMed  Google Scholar 

  • Barkovich, A. J., & Kjos, B. O. (1992). Schizencephaly: Correlation of clinical findings with MR characteristics. American Journal of Neuroradiology, 13, 85–94.

    CAS  PubMed  Google Scholar 

  • Barkovich, A. J., Fram, E. K., & Norman, D. (1989). Septo-optic dysplasia: MR imaging. Radiology, 171, 189–192.

    Article  CAS  PubMed  Google Scholar 

  • Brunelli, S., Faiella, A., Capra, V., et al. (1996). Germline mutations in the homeobox gene EMX2 in patients with severe schizencephaly. Nature Genetics, 12, 94–96.

    Article  CAS  PubMed  Google Scholar 

  • Capra, V., De Marco, P., Moroni, A., et al. (1996). Schizencephaly: Surgical features and new molecular genetic results. European Journal of Pediatric Surgery, 6(Suppl 1), 27–29.

    Article  PubMed  Google Scholar 

  • Ceccherini, A. F., Twining, P., & Variend, S. (1999). Schizencephaly: Antenatal detection using ultrasound. Clinical Radiology, 54, 620–622.

    Article  CAS  PubMed  Google Scholar 

  • Chamberlain, M. C., Press, G. A., & Bejar, R. F. (1990). Neonatal schizencephaly: Comparison of brain imaging. Pediatric Neurology, 6, 382–387.

    Article  CAS  PubMed  Google Scholar 

  • Chen, C.-P., Peng, C.-R., Chang, T.-Y., et al. (2015). Prenatal diagnosis of chromosome 8p23.1 microdeletion by array comparative genomic hybridization using uncultured amniocytes in a pregnancy associated with fetal partial corpus callosum agenesis and schizencephaly. Taiwanese Journal of Obstetrics & Gynecology, 54, 797–798.

    Article  Google Scholar 

  • Cui, Z., Song, H., Ling, Z., et al. (2013). Resection or multi-lobe disconnection for intractable epilepsy with open-lip schizencephaly. Journal of Clinical Neuroscience, 20, 1780–1782.

    Article  PubMed  Google Scholar 

  • Denis, D., Chateil, J. F., Brun, M., et al. (2000). Schizencephaly: Clinical and imaging features in 30 infantile cases. Brain & Development, 22, 475–483.

    Article  CAS  Google Scholar 

  • Denis, D., Maugey-Laulom, B., Carles, D., et al. (2001). Prenatal diagnosis of schizencephaly by fetal magnetic resonance imaging. Fetal Diagnosis and Therapy, 16, 354–359.

    Article  CAS  PubMed  Google Scholar 

  • Faiella, A., Brunelli, S., Granata, T., et al. (1997). A number of schizencephaly patients including 2 brothers are heterozygous for germline mutations in the homeobox gene EMX2. European Journal of Human Genetics, 5, 186–190.

    CAS  PubMed  Google Scholar 

  • Granata, T., Battaglia, G., D’Incerti, L., et al. (1996). Schizencephaly: Neuroradiologic and epileptologic findings. Epilepsia, 37, 1185–1193.

    Article  CAS  PubMed  Google Scholar 

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

    Article  Google Scholar 

  • Haverkamp, F., Zerres, K., Ostertun, B., et al. (1995). Familial schizencephaly: Further delineation of a rare disorder. Journal of Medical Genetics, 32, 242–244.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Hayashi, N., Tsutsumi, Y., & Barkovich, A. J. (2002). Morphological features and associated anomalies of schizencephaly in the clinical population: Detailed analysis of MR images. Neuroradiology, 44, 418–427.

    Article  CAS  PubMed  Google Scholar 

  • Hehr, U., Pineda-Alvarez, D. E., Uyanik, G., et al. (2010). Heterozygous mutations in SIX3 and SHH are associated with schizencephaly and further expand the clinical spectrum of holoprosencephaly. Human Genetics, 127, 555–561.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Hilburger, A. C., Willis, J. K., Bouldin, F., et al. (1993). Familial schizencephaly. Brain & Development, 15, 234–236.

    Article  CAS  Google Scholar 

  • Hosley, M. A., Abroms, I. F., & Ragland, R. L. (1992). Schizencephaly: Case report of familial incidence. Pediatric Neurology, 8, 148–150.

    Article  CAS  PubMed  Google Scholar 

  • Klingensmith, W. C., III, & Cioffi-Ragan, D. T. (1986). Schizencephaly: Diagnosis and progression in utero. Radiology, 159, 617–618.

    Article  PubMed  Google Scholar 

  • Komarniski, C. A., Cyr, D. R., Mack, L. A., et al. (1990). Prenatal diagnosis of schizencephaly. Journal of Ultrasound in Medicine, 9, 305–307.

    CAS  PubMed  Google Scholar 

  • Kopyta, I., Jamroz, E., Kluczewska, E., et al. (2014). Clinical and radiologic features of unilateral and bilateral schizencephaly in polish pediatric patients. Journal of Child Neurology, 29, 442–449.

    Article  PubMed  Google Scholar 

  • Kuban, K. C., Teele, R. L., & Wallman, J. (1989). Septo-optic-dysplasia-schizencephaly. Radiographic and clinical features. Pediatric Radiology, 19, 145–150.

    Article  CAS  PubMed  Google Scholar 

  • Landrieu, P., & Lacroix, C. (1994). Schizencephaly, consequence of a developmental vasculopathy? A clinicopathological report. Clinical Neuropathology, 13, 192–196.

    CAS  PubMed  Google Scholar 

  • Lituania, M., Passamonti, U., Cordono, M. S., et al. (1989). Schizencephaly: Prenatal diagnosis by computed sonography and magnetic resonance imaging. Prenatal Diagnosis, 9, 649–655.

    Article  CAS  PubMed  Google Scholar 

  • Matsumoto, T., Miyakoshi, K., Fukutake, M., et al. (2015). Intracranial sonographic features demonstrating in utero development of hemorrhagic brain damage leading to schizencephaly-associated COL4A1 mutation. Journal of Medical Ultrasonics, 42, 445–446.

    Article  PubMed  Google Scholar 

  • Merello, E., Swanson, E., de Marco, P., et al. (2008). No major role for the EMX2 gene in Schizencephaly. American Journal of Medical Genetics. Part A, 146A, 1142–1150.

    Article  CAS  PubMed  Google Scholar 

  • Miller, G. M., Stears, I. C., Cuggenheim, M. A., et al. (1984). Schizencephaly: A clinical and CT study. Neurology, 34, 997–1001.

    Article  CAS  PubMed  Google Scholar 

  • Nabavizadeh, S. A., Zarnow, D., Bilaniuk, L. T., et al. (2014). Correlation of prenatal and postnatal MRI findings in schizencephaly. AJNR. American Journal of Neuroradiology, 35, 1418–1424.

    Article  CAS  PubMed  Google Scholar 

  • Neves, A., Carvalheira, F., Campos, J., et al. (2016). Right homonymous hemianopia: A clinical case report of schizencephaly. Case Reports in Ophthalmology, 7, 16–20.

    Article  PubMed  PubMed Central  Google Scholar 

  • Oh, K. Y., Kennedy, A. M., Frias, A. E., et al. (2005). Fetal schizencephaly: Pre- and postnatal imaging with a review of the clinical manifestations. Radiographics, 25, 647–657.

    Article  PubMed  Google Scholar 

  • Orsini, D. L., & Satz, P. (1986). A syndrome of pathological left-handedness: Correlates of early left hemisphere injury. Archives of Neurology, 43, 333–337.

    Article  CAS  PubMed  Google Scholar 

  • Packard, A. M., Miller, V. S., & Delgado, M. R. (1997). Schizencephaly: Correlations of clinical and radiologic features. Neurology, 48, 1427–1434.

    Article  CAS  PubMed  Google Scholar 

  • Page, L. K., Brown, S. B., Gargano, F. P., et al. (1975). Schizencephaly: A clinical study and review. Child's Brain, 1, 348–358.

    CAS  PubMed  Google Scholar 

  • Panda, S. (2016). “Quartered cerebrum”: Bilateral schizencephaly with partial agenesis of corpus callosum. Neurology India, 64, 579–581.

    Article  PubMed  Google Scholar 

  • Pascual-Castroviejo, I., Pascual-Pascual, S. I., Velazquez-Fragua, R., et al. (2012). Schizencephaly: A study of 16 patients. Neurología, 27, 491–499.

    Article  CAS  PubMed  Google Scholar 

  • Robinson, R. O. (1991). Familial schizencephaly. Developmental Medicine and Child Neurology, 33, 1010–1012.

    Article  CAS  PubMed  Google Scholar 

  • Samanta, D. (2016). Contactin-associated protein-like (CNTNAP) 2 gene mutation in a patient with bilateral schizencephaly. Acta Neurologica Belgica, 27 May 2016. [Epub ahead of print].

    Google Scholar 

  • Sarikaya, B. (2009). MR tractography of schizencephaly. Diagnostic and Interventional Radiology, 16, 270–275.

    PubMed  Google Scholar 

  • Sharma, N., Dutt, R., Agarwal, V., et al. (2014). Bilateral schizencephaly type II. Australasian Medical Journal, 7, 157–160.

    Article  PubMed  PubMed Central  Google Scholar 

  • Smigiel, R., Cabala, M., Jakubiak, A., et al. (2016). Novel COL4A1 mutation in an infant with severe dysmorphic syndrome with schizencephaly, periventricular calcifications, and cataract resembling congenital infection. Birth Defects Research (Part A), 106, 304–307.

    Article  CAS  Google Scholar 

  • Stopa, J., Kucharska-Miasik, I., Dziurzynska-Biatek, E., et al. (2014). Diagnostic imaging and problems of schizencephaly. Polish Journal of Radiology, 79, 444–449.

    Article  PubMed  PubMed Central  Google Scholar 

  • Tietjen, I., Bodell, A., Apse, K., et al. (2007). Comprehensive EMX2 genotyping of a large schizencephaly case series. American Journal of Medical Genetics Part A, 143A, 1313–1316.

    Article  CAS  PubMed  Google Scholar 

  • Ugboma, E. W., & Agi, C. e. (2016). Schizencephaly: A case report and review of literature. Nigerian Postgraduate Medical Journal, 23, 38–40.

    Article  PubMed  Google Scholar 

  • Yakovlev, P. I., & Wadsworth, R. C. (1946a). Schizencephalies. A study of the congenital clefts in the cerebral mantle. I. Clefts with fused lips. Journal of Neuropathology and Experimental Neurology, 5, 116–130.

    Article  CAS  PubMed  Google Scholar 

  • Yakovlev, P. I., & Wadsworth, R. C. (1946b). Schizencephalies. A study of the congenital clefts in the cerebral mantle. II. Clefts with hydrocephalus and lips separated. Journal of Neuropathology and Experimental Neurology, 5, 169–206.

    Article  CAS  PubMed  Google Scholar 

  • Yoneda, Y., Haginoya, K., Kato, M., et al. (2012). Phenotypic spectrum of COL4A1 mutations: Porencephaly to schizencephaly. Annals of Neurology, 73, 48–57.

    Article  PubMed  Google Scholar 

  • Zhang, J., Yang, Z., Yang, Z., et al. (2016). Successful surgery for refractory seizures associated with bilateral schizencephaly: Two case reports and literature review. Neurological Sciences, 37, 1079–1088.

    Article  PubMed  Google Scholar 

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Authors and Affiliations

  1. Medical Genetics, Shriners Hospitals for Children, 1501 Kings Highway, Shreveport, LA, 71130, USA

    Harold Chen

  2. Perinatal and Clinical Genetics, Department of Pediatrics, LSU Health Sciences Center, 1501 Kings Highway, Shreveport, LA, 71130, USA

    Harold Chen

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  1. Harold Chen
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Correspondence to Harold Chen .

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Chen, H. (2016). Schizencephaly. In: Atlas of Genetic Diagnosis and Counseling. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-6430-3_210-2

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  • DOI: https://doi.org/10.1007/978-1-4614-6430-3_210-2

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  • Online ISBN: 978-1-4614-6430-3

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