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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
            • Most consider schizencephaly to be severe form of polymicrogyria (PMG) given their common association with one another

          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

                                      • Consider

                                        • Image Interpretation Pearls

                                          Selected References

                                          1. Braga VL et al: Schizencephaly: a review of 734 patients. Pediatr Neurol. 87:23-9, 2018
                                          2. Griffiths PD: Schizencephaly revisited. Neuroradiology. 60(9):945-60, 2018
                                          3. Hung PC et al: Schizencephaly in children: a single medical center retrospective study. Pediatr Neonatol. 59(6):573-80, 2018
                                          4. Halabuda A et al: Schizencephaly-diagnostics and clinical dilemmas. Childs Nerv Syst. 31(4):551-6, 2015
                                          5. Kutuk MS et al: Prenatal diagnosis and postnatal outcome of schizencephaly. J Child Neurol. 30(10):1388-94, 2014
                                          6. Nabavizadeh SA et al: Correlation of prenatal and postnatal MRI findings in schizencephaly. AJNR Am JNeuroradiol. 35(7):1418-24, 2014
                                          7. Stopa J et al: Diagnostic imaging and problems of schizencephaly. Pol J Radiol. 79:444-9, 2014
                                          8. 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
                                          9. Cui Z et al: Resection or multi-lobe disconnection for intractable epilepsy with open-lip schizencephaly. J Clin Neurosci. 20(12):1780-2, 2013
                                          10. 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
                                          11. Yoneda Y et al: Phenotypic spectrum of COL4A1 mutations: porencephaly to schizencephaly. Ann Neurol. 73(1):48-57, 2013
                                          12. Barkovich AJ et al: Pediatric Neuroimaging. 5th ed. Philadelphia: Lippincott Williams & Wilkins, 2012
                                          13. Howe DT et al: Schizencephaly prevalence, prenatal diagnosis and clues to etiology: a register-based study. Ultrasound Obstet Gynecol. 39(1):75-82, 2012
                                          14. Rios LT et al: Prenatal and postnatal schizencephaly findings by 2D and 3D ultrasound: pictorial essay. J Clin Imaging Sci. 2:30, 2012
                                          15. 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
                                          16. Heuer GG et al: Anatomic hemispherectomy for intractable epilepsy in a patient with unilateral schizencephaly. J Neurosurg Pediatr. 2(2):146-9, 2008
                                          17. 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
                                          18. Vandermeeren Y et al: Functional relevance of abnormal fMRI activation pattern after unilateral schizencephaly. Neuroreport. 13(14):1821-4, 2002
                                          19. Denis D et al: Schizencephaly: clinical and imaging features in 30 infantile cases. Brain Dev. 22(8):475-83, 2000
                                          20. 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
                                                    • Most consider schizencephaly to be severe form of polymicrogyria (PMG) given their common association with one another

                                                  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

                                                                              • Consider

                                                                                • Image Interpretation Pearls

                                                                                  Selected References

                                                                                  1. Braga VL et al: Schizencephaly: a review of 734 patients. Pediatr Neurol. 87:23-9, 2018
                                                                                  2. Griffiths PD: Schizencephaly revisited. Neuroradiology. 60(9):945-60, 2018
                                                                                  3. Hung PC et al: Schizencephaly in children: a single medical center retrospective study. Pediatr Neonatol. 59(6):573-80, 2018
                                                                                  4. Halabuda A et al: Schizencephaly-diagnostics and clinical dilemmas. Childs Nerv Syst. 31(4):551-6, 2015
                                                                                  5. Kutuk MS et al: Prenatal diagnosis and postnatal outcome of schizencephaly. J Child Neurol. 30(10):1388-94, 2014
                                                                                  6. Nabavizadeh SA et al: Correlation of prenatal and postnatal MRI findings in schizencephaly. AJNR Am JNeuroradiol. 35(7):1418-24, 2014
                                                                                  7. Stopa J et al: Diagnostic imaging and problems of schizencephaly. Pol J Radiol. 79:444-9, 2014
                                                                                  8. 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
                                                                                  9. Cui Z et al: Resection or multi-lobe disconnection for intractable epilepsy with open-lip schizencephaly. J Clin Neurosci. 20(12):1780-2, 2013
                                                                                  10. 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
                                                                                  11. Yoneda Y et al: Phenotypic spectrum of COL4A1 mutations: porencephaly to schizencephaly. Ann Neurol. 73(1):48-57, 2013
                                                                                  12. Barkovich AJ et al: Pediatric Neuroimaging. 5th ed. Philadelphia: Lippincott Williams & Wilkins, 2012
                                                                                  13. Howe DT et al: Schizencephaly prevalence, prenatal diagnosis and clues to etiology: a register-based study. Ultrasound Obstet Gynecol. 39(1):75-82, 2012
                                                                                  14. Rios LT et al: Prenatal and postnatal schizencephaly findings by 2D and 3D ultrasound: pictorial essay. J Clin Imaging Sci. 2:30, 2012
                                                                                  15. 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
                                                                                  16. Heuer GG et al: Anatomic hemispherectomy for intractable epilepsy in a patient with unilateral schizencephaly. J Neurosurg Pediatr. 2(2):146-9, 2008
                                                                                  17. 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
                                                                                  18. Vandermeeren Y et al: Functional relevance of abnormal fMRI activation pattern after unilateral schizencephaly. Neuroreport. 13(14):1821-4, 2002
                                                                                  19. Denis D et al: Schizencephaly: clinical and imaging features in 30 infantile cases. Brain Dev. 22(8):475-83, 2000
                                                                                  20. 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