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Schizencephaly
Usha D. Nagaraj, 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)

          IMAGING

          • General Features

            • CT Findings

              • MR Findings

                • Ultrasonographic 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. Park KB et al: The spectrum of brain malformations and disruptions in twins. Am J Med Genet A. 185(9):2690-718, 2021
                                      2. Barkovich AJ et al: Pediatric Neuroimaging. 6th ed. Wolters Kluwer, 2019
                                      3. Benson JC et al: Septo-optic dysplasia: assessment of associated findings with special attention to the olfactory sulci and tracts. Clin Neuroradiol. 29(3):505-13, 2019
                                      4. Braga VL et al: Schizencephaly: a review of 734 patients. Pediatr Neurol. 87:23-9, 2018
                                      5. Khalid R et al: COL4A1 and fetal vascular origins of schizencephaly. Neurology. 90(5):232-4, 2018
                                      6. Halabuda A et al: Schizencephaly-diagnostics and clinical dilemmas. Childs Nerv Syst. 31(4):551-6, 2015
                                      7. Kutuk MS et al: Prenatal diagnosis and postnatal outcome of schizencephaly. J Child Neurol. 30(10):1388-94, 2014
                                      8. Nabavizadeh SA et al: Correlation of prenatal and postnatal MRI findings in schizencephaly. AJNR Am JNeuroradiol. 35(7):1418-24, 2014
                                      9. Stopa J et al: Diagnostic imaging and problems of schizencephaly. Pol J Radiol. 79:444-9, 2014
                                      10. 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
                                      11. Cui Z et al: Resection or multi-lobe disconnection for intractable epilepsy with open-lip schizencephaly. J Clin Neurosci. 20(12):1780-2, 2013
                                      12. 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
                                      13. Yoneda Y et al: Phenotypic spectrum of COL4A1 mutations: porencephaly to schizencephaly. Ann Neurol. 73(1):48-57, 2013
                                      14. Howe DT et al: Schizencephaly prevalence, prenatal diagnosis and clues to etiology: a register-based study. Ultrasound Obstet Gynecol. 39(1):75-82, 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. Merello E et al: No major role for the EMX2 gene in schizencephaly. Am J Med Genet A. 146A(9):1142-50, 2008
                                      18. 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
                                      19. Vandermeeren Y et al: Functional relevance of abnormal fMRI activation pattern after unilateral schizencephaly. Neuroreport. 13(14):1821-4, 2002
                                      20. Denis D et al: Schizencephaly: clinical and imaging features in 30 infantile cases. Brain Dev. 22(8):475-83, 2000
                                      21. 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)

                                              IMAGING

                                              • General Features

                                                • CT Findings

                                                  • MR Findings

                                                    • Ultrasonographic 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. Park KB et al: The spectrum of brain malformations and disruptions in twins. Am J Med Genet A. 185(9):2690-718, 2021
                                                                          2. Barkovich AJ et al: Pediatric Neuroimaging. 6th ed. Wolters Kluwer, 2019
                                                                          3. Benson JC et al: Septo-optic dysplasia: assessment of associated findings with special attention to the olfactory sulci and tracts. Clin Neuroradiol. 29(3):505-13, 2019
                                                                          4. Braga VL et al: Schizencephaly: a review of 734 patients. Pediatr Neurol. 87:23-9, 2018
                                                                          5. Khalid R et al: COL4A1 and fetal vascular origins of schizencephaly. Neurology. 90(5):232-4, 2018
                                                                          6. Halabuda A et al: Schizencephaly-diagnostics and clinical dilemmas. Childs Nerv Syst. 31(4):551-6, 2015
                                                                          7. Kutuk MS et al: Prenatal diagnosis and postnatal outcome of schizencephaly. J Child Neurol. 30(10):1388-94, 2014
                                                                          8. Nabavizadeh SA et al: Correlation of prenatal and postnatal MRI findings in schizencephaly. AJNR Am JNeuroradiol. 35(7):1418-24, 2014
                                                                          9. Stopa J et al: Diagnostic imaging and problems of schizencephaly. Pol J Radiol. 79:444-9, 2014
                                                                          10. 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
                                                                          11. Cui Z et al: Resection or multi-lobe disconnection for intractable epilepsy with open-lip schizencephaly. J Clin Neurosci. 20(12):1780-2, 2013
                                                                          12. 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
                                                                          13. Yoneda Y et al: Phenotypic spectrum of COL4A1 mutations: porencephaly to schizencephaly. Ann Neurol. 73(1):48-57, 2013
                                                                          14. Howe DT et al: Schizencephaly prevalence, prenatal diagnosis and clues to etiology: a register-based study. Ultrasound Obstet Gynecol. 39(1):75-82, 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. Merello E et al: No major role for the EMX2 gene in schizencephaly. Am J Med Genet A. 146A(9):1142-50, 2008
                                                                          18. 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
                                                                          19. Vandermeeren Y et al: Functional relevance of abnormal fMRI activation pattern after unilateral schizencephaly. Neuroreport. 13(14):1821-4, 2002
                                                                          20. Denis D et al: Schizencephaly: clinical and imaging features in 30 infantile cases. Brain Dev. 22(8):475-83, 2000
                                                                          21. 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