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Schizencephaly
Luke L. Linscott, MD
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KEY FACTS

  • Imaging

    • Top Differential Diagnoses

      • Pathology

        • Clinical Issues

          TERMINOLOGY

          • Synonyms

            • Agenetic porencephaly
          • Definitions

            • Transmantle cleft in brain parenchyma extending from cortical surface to ventricle (i.e., pia to ependyma)
              • Lined by dysplastic gray matter (GM)
            • Types I (closed-lip) & II (open-lip) defects

          IMAGING

          • General Features

            • CT Findings

              • MR Findings

                • Ultrasonographic Findings

                  • Nuclear Medicine Findings

                    • Imaging Recommendations

                      DIFFERENTIAL DIAGNOSIS

                        PATHOLOGY

                        • General Features

                          • Gross Pathologic & Surgical Features

                            • Microscopic Features

                              CLINICAL ISSUES

                              • Presentation

                                • Demographics

                                  • Natural History & Prognosis

                                    • Treatment

                                      DIAGNOSTIC CHECKLIST

                                      • Image Interpretation Pearls

                                        Selected References

                                        1. Halabuda A et al: Schizencephaly-diagnostics and clinical dilemmas. Childs Nerv Syst. 31(4):551-6, 2015
                                        2. Kutuk MS et al: Prenatal diagnosis and postnatal outcome of schizencephaly. J Child Neurol. 30(10):1388-94, 2014
                                        3. Nabavizadeh SA et al: Correlation of prenatal and postnatal MRI findings in schizencephaly. AJNR Am JNeuroradiol. 35(7):1418-24, 2014
                                        4. Stopa J et al: Diagnostic imaging and problems of schizencephaly. Pol J Radiol. 79:444-9, 2014
                                        5. Choi HY et al: Long-term outcome of surgical treatment of patients with intractable epilepsy associated with schizencephaly. Acta Neurochir (Wien). 155(9):1717-24, 2013
                                        6. Cui Z et al: Resection or multi-lobe disconnection for intractable epilepsy with open-lip schizencephaly. J Clin Neurosci. 20(12):1780-2, 2013
                                        7. Dies KA et al: Schizencephaly: association with young maternal age, alcohol use, and lack of prenatal care. J Child Neurol. 28(2):198-203, 2013
                                        8. Yoneda Y et al: Phenotypic spectrum of COL4A1 mutations: porencephaly to schizencephaly. Ann Neurol. 73(1):48-57, 2013
                                        9. Barkovich AJ et al: Pediatric Neuroimaging. 5th ed. Philadelphia: Lippincott Williams & Wilkins, 2012
                                        10. Howe DT et al: Schizencephaly prevalence, prenatal diagnosis and clues to etiology: a register-based study. Ultrasound Obstet Gynecol. 39(1):75-82, 2012
                                        11. Mellado C et al: Candidate gene sequencing of LHX2, HESX1, and SOX2 in a large schizencephaly cohort. Am J Med Genet A. 152A(11):2736-42, 2010
                                        12. Heuer GG et al: Anatomic hemispherectomy for intractable epilepsy in a patient with unilateral schizencephaly. J Neurosurg Pediatr. 2(2):146-9, 2008
                                        13. Merello E et al: No major role for the EMX2 gene in schizencephaly. Am J Med Genet A. 146A(9):1142-50, 2008
                                        14. Curry CJ et al: Schizencephaly: heterogeneous etiologies in a population of 4 million California births. Am J Med Genet A. 137(2):181-9, 2005
                                        15. Vandermeeren Y et al: Functional relevance of abnormal fMRI activation pattern after unilateral schizencephaly. Neuroreport. 13(14):1821-4, 2002
                                        16. Denis D et al: Schizencephaly: clinical and imaging features in 30 infantile cases. Brain Dev. 22(8):475-83, 2000
                                        17. Morioka T et al: Functional imaging in schizencephaly using [18F]fluoro-2-deoxy-D-glucose positron emission tomography (FDG-PET) and single photon emission computed tomography with technetium-99m-hexamethyl-propyleneamine oxime (HMPAO-SPECT). Neurosurg Rev. 22(2-3):99-101, 1999
                                        Related Anatomy
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                                        Related Differential Diagnoses
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                                        References
                                        Tables

                                        Tables

                                        KEY FACTS

                                        • Imaging

                                          • Top Differential Diagnoses

                                            • Pathology

                                              • Clinical Issues

                                                TERMINOLOGY

                                                • Synonyms

                                                  • Agenetic porencephaly
                                                • Definitions

                                                  • Transmantle cleft in brain parenchyma extending from cortical surface to ventricle (i.e., pia to ependyma)
                                                    • Lined by dysplastic gray matter (GM)
                                                  • Types I (closed-lip) & II (open-lip) defects

                                                IMAGING

                                                • General Features

                                                  • CT Findings

                                                    • MR Findings

                                                      • Ultrasonographic Findings

                                                        • Nuclear Medicine Findings

                                                          • Imaging Recommendations

                                                            DIFFERENTIAL DIAGNOSIS

                                                              PATHOLOGY

                                                              • General Features

                                                                • Gross Pathologic & Surgical Features

                                                                  • Microscopic Features

                                                                    CLINICAL ISSUES

                                                                    • Presentation

                                                                      • Demographics

                                                                        • Natural History & Prognosis

                                                                          • Treatment

                                                                            DIAGNOSTIC CHECKLIST

                                                                            • Image Interpretation Pearls

                                                                              Selected References

                                                                              1. Halabuda A et al: Schizencephaly-diagnostics and clinical dilemmas. Childs Nerv Syst. 31(4):551-6, 2015
                                                                              2. Kutuk MS et al: Prenatal diagnosis and postnatal outcome of schizencephaly. J Child Neurol. 30(10):1388-94, 2014
                                                                              3. Nabavizadeh SA et al: Correlation of prenatal and postnatal MRI findings in schizencephaly. AJNR Am JNeuroradiol. 35(7):1418-24, 2014
                                                                              4. Stopa J et al: Diagnostic imaging and problems of schizencephaly. Pol J Radiol. 79:444-9, 2014
                                                                              5. Choi HY et al: Long-term outcome of surgical treatment of patients with intractable epilepsy associated with schizencephaly. Acta Neurochir (Wien). 155(9):1717-24, 2013
                                                                              6. Cui Z et al: Resection or multi-lobe disconnection for intractable epilepsy with open-lip schizencephaly. J Clin Neurosci. 20(12):1780-2, 2013
                                                                              7. Dies KA et al: Schizencephaly: association with young maternal age, alcohol use, and lack of prenatal care. J Child Neurol. 28(2):198-203, 2013
                                                                              8. Yoneda Y et al: Phenotypic spectrum of COL4A1 mutations: porencephaly to schizencephaly. Ann Neurol. 73(1):48-57, 2013
                                                                              9. Barkovich AJ et al: Pediatric Neuroimaging. 5th ed. Philadelphia: Lippincott Williams & Wilkins, 2012
                                                                              10. Howe DT et al: Schizencephaly prevalence, prenatal diagnosis and clues to etiology: a register-based study. Ultrasound Obstet Gynecol. 39(1):75-82, 2012
                                                                              11. Mellado C et al: Candidate gene sequencing of LHX2, HESX1, and SOX2 in a large schizencephaly cohort. Am J Med Genet A. 152A(11):2736-42, 2010
                                                                              12. Heuer GG et al: Anatomic hemispherectomy for intractable epilepsy in a patient with unilateral schizencephaly. J Neurosurg Pediatr. 2(2):146-9, 2008
                                                                              13. Merello E et al: No major role for the EMX2 gene in schizencephaly. Am J Med Genet A. 146A(9):1142-50, 2008
                                                                              14. Curry CJ et al: Schizencephaly: heterogeneous etiologies in a population of 4 million California births. Am J Med Genet A. 137(2):181-9, 2005
                                                                              15. Vandermeeren Y et al: Functional relevance of abnormal fMRI activation pattern after unilateral schizencephaly. Neuroreport. 13(14):1821-4, 2002
                                                                              16. Denis D et al: Schizencephaly: clinical and imaging features in 30 infantile cases. Brain Dev. 22(8):475-83, 2000
                                                                              17. Morioka T et al: Functional imaging in schizencephaly using [18F]fluoro-2-deoxy-D-glucose positron emission tomography (FDG-PET) and single photon emission computed tomography with technetium-99m-hexamethyl-propyleneamine oxime (HMPAO-SPECT). Neurosurg Rev. 22(2-3):99-101, 1999