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Schizencephaly
Emily Edwards, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            • Diagnostic Checklist

              TERMINOLOGY

              • Definitions

                • Gray matter-lined cleft extending from brain surface to ventricle
                  • Closed lip (type 1)
                    • Parallel gray matter lips in contact with each other
                  • Open lip (type 2)
                    • Gray matter lips separated by intervening cerebral spinal fluid (CSF)
                      • CSF extends to underlying ventricle

              IMAGING

              • General Features

                • Ultrasonographic Findings

                  • MR Findings

                    DIFFERENTIAL DIAGNOSIS

                      PATHOLOGY

                      • General Features

                        • Gross Pathologic & Surgical Features

                          CLINICAL ISSUES

                          • Presentation

                            • Demographics

                              • Natural History & Prognosis

                                • Treatment

                                  DIAGNOSTIC CHECKLIST

                                  • Image Interpretation Pearls

                                    Selected References

                                    1. Shannon P et al: Brain and placental pathology in fetal COL4A1 related disease. Pediatr Dev Pathol. 1093526620984083, 2021
                                    2. Maurice P et al: COL4A1 and COL4A2 mutations: when to test a fetus? Ultrasound Obstet Gynecol. ePub, 2020
                                    3. Braga VL et al: Schizencephaly: a review of 734 patients. Pediatr Neurol. 87:23-9, 2018
                                    4. Griffiths PD: Schizencephaly revisited. Neuroradiology. 60(9):945-60, 2018
                                    5. Khalid R et al: COL4A1 and fetal vascular origins of schizencephaly. Neurology. 90(5):232-4, 2018
                                    6. Rege SV et al: Bilateral giant open-lip schizencephaly: a rare case report. J Pediatr Neurosci. 11(2):128-30, 2016
                                    7. Halabuda A et al: Schizencephaly-diagnostics and clinical dilemmas. Childs Nerv Syst. 31(4):551-6, 2015
                                    8. Kutuk MS et al: Prenatal diagnosis and postnatal outcome of schizencephaly. J Child Neurol. 30(10):1388-94, 2014
                                    9. Nabavizadeh SA et al: Correlation of prenatal and postnatal MRI findings in schizencephaly. AJNR Am J Neuroradiol. 35(7):1418-24, 2014
                                    10. Lee W et al: Prenatal diagnostic challenges and pitfalls for schizencephaly. J Ultrasound Med. 28(10):1379-84, 2009
                                    11. Oh KY et al: Fetal schizencephaly: pre- and postnatal imaging with a review of the clinical manifestations. Radiographics. 25(3):647-57, 2005
                                    12. Packard AM et al: Schizencephaly: correlations of clinical and radiologic features. Neurology. 48(5):1427-34, 1997
                                    13. Barkovich AJ et al: Schizencephaly: correlation of clinical findings with MR characteristics. AJNR Am J Neuroradiol. 13(1):85-94, 1992
                                    14. Komarniski CA et al: Prenatal diagnosis of schizencephaly. J Ultrasound Med. 9(5):305-7, 1990
                                    15. Barkovich AJ et al: MR imaging of schizencephaly. AJR Am J Roentgenol. 150(6):1391-6, 1988
                                    Related Anatomy
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                                    Related Differential Diagnoses
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                                    References
                                    Tables

                                    Tables

                                    KEY FACTS

                                    • Terminology

                                      • Imaging

                                        • Top Differential Diagnoses

                                          • Pathology

                                            • Clinical Issues

                                              • Diagnostic Checklist

                                                TERMINOLOGY

                                                • Definitions

                                                  • Gray matter-lined cleft extending from brain surface to ventricle
                                                    • Closed lip (type 1)
                                                      • Parallel gray matter lips in contact with each other
                                                    • Open lip (type 2)
                                                      • Gray matter lips separated by intervening cerebral spinal fluid (CSF)
                                                        • CSF extends to underlying ventricle

                                                IMAGING

                                                • General Features

                                                  • Ultrasonographic Findings

                                                    • MR Findings

                                                      DIFFERENTIAL DIAGNOSIS

                                                        PATHOLOGY

                                                        • General Features

                                                          • Gross Pathologic & Surgical Features

                                                            CLINICAL ISSUES

                                                            • Presentation

                                                              • Demographics

                                                                • Natural History & Prognosis

                                                                  • Treatment

                                                                    DIAGNOSTIC CHECKLIST

                                                                    • Image Interpretation Pearls

                                                                      Selected References

                                                                      1. Shannon P et al: Brain and placental pathology in fetal COL4A1 related disease. Pediatr Dev Pathol. 1093526620984083, 2021
                                                                      2. Maurice P et al: COL4A1 and COL4A2 mutations: when to test a fetus? Ultrasound Obstet Gynecol. ePub, 2020
                                                                      3. Braga VL et al: Schizencephaly: a review of 734 patients. Pediatr Neurol. 87:23-9, 2018
                                                                      4. Griffiths PD: Schizencephaly revisited. Neuroradiology. 60(9):945-60, 2018
                                                                      5. Khalid R et al: COL4A1 and fetal vascular origins of schizencephaly. Neurology. 90(5):232-4, 2018
                                                                      6. Rege SV et al: Bilateral giant open-lip schizencephaly: a rare case report. J Pediatr Neurosci. 11(2):128-30, 2016
                                                                      7. Halabuda A et al: Schizencephaly-diagnostics and clinical dilemmas. Childs Nerv Syst. 31(4):551-6, 2015
                                                                      8. Kutuk MS et al: Prenatal diagnosis and postnatal outcome of schizencephaly. J Child Neurol. 30(10):1388-94, 2014
                                                                      9. Nabavizadeh SA et al: Correlation of prenatal and postnatal MRI findings in schizencephaly. AJNR Am J Neuroradiol. 35(7):1418-24, 2014
                                                                      10. Lee W et al: Prenatal diagnostic challenges and pitfalls for schizencephaly. J Ultrasound Med. 28(10):1379-84, 2009
                                                                      11. Oh KY et al: Fetal schizencephaly: pre- and postnatal imaging with a review of the clinical manifestations. Radiographics. 25(3):647-57, 2005
                                                                      12. Packard AM et al: Schizencephaly: correlations of clinical and radiologic features. Neurology. 48(5):1427-34, 1997
                                                                      13. Barkovich AJ et al: Schizencephaly: correlation of clinical findings with MR characteristics. AJNR Am J Neuroradiol. 13(1):85-94, 1992
                                                                      14. Komarniski CA et al: Prenatal diagnosis of schizencephaly. J Ultrasound Med. 9(5):305-7, 1990
                                                                      15. Barkovich AJ et al: MR imaging of schizencephaly. AJR Am J Roentgenol. 150(6):1391-6, 1988