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Callosal Anomalies
Usha D. Nagaraj, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            • Diagnostic Checklist

              TERMINOLOGY

              • Definitions

                • Heterogeneous condition of congenital hypoplasia/dysplasia or absence of corpus callosum
                • Complete agenesis of corpus callosum (ACC)
                  • Agenesis of CC & hippocampal commissure with presence of anterior commissure: Most common
                  • ACC with presence of anterior & hippocampal commissures
                  • Tricommissural agenesis: Complete absence of CC, anterior commissure, & hippocampal commissure
                • Dysgenesis of corpus callosum
                  • Hypogenesis of corpus callosum (partial agenesis of corpus callosum)
                    • All 5 parts of CC are not present → shortening of CC in AP dimension
                  • Hypoplasia of corpus callosum
                    • Diffusely thin CC with normal AP length & all parts present

              IMAGING

              • General Features

                • Radiographic Findings

                  • CT Findings

                    • MR Findings

                      • Ultrasonographic Findings

                        • Imaging Recommendations

                          DIFFERENTIAL DIAGNOSIS

                            PATHOLOGY

                            • General Features

                              • Staging, Grading, & Classification

                                • Gross Pathologic & Surgical Features

                                  CLINICAL ISSUES

                                  • Presentation

                                    • Demographics

                                      • Treatment

                                        DIAGNOSTIC CHECKLIST

                                        • Consider

                                          • Image Interpretation Pearls

                                            Selected References

                                            1. Sileo FG et al: Role of prenatal magnetic resonance imaging in fetuses with isolated agenesis of corpus callosum in the era of fetal neurosonography: a systematic review and meta-analysis. Acta Obstet Gynecol Scand. 100(1):7-16, 2021
                                            2. Yang E et al: A practical approach to supratentorial brain malformations: what radiologists should know. Radiol Clin North Am. 55(4):609-27, 2017
                                            3. Cesaretti C et al: Variability of forebrain commissures in callosal agenesis: a prenatal MR imaging study. AJNR Am J Neuroradiol. 37(3):521-7, 2016
                                            4. Wiechec M et al: Four steps in diagnosing complete agenesis of the corpus callosum in prenatal life. Ultraschall Med. 37(1):92-9, 2016
                                            5. Neal JB et al: Morphometric variability of neuroimaging features in children with agenesis of the corpus callosum. BMC Neurol. 15:116, 2015
                                            6. Rüland AM et al: Prenatal diagnosis of anomalies of the corpus callosum over a 13-year period. Ultraschall Med. 37(6):598-603, 2016
                                            7. Shen O et al: Abnormal shape of the cavum septi pellucidi: an indirect sign of partial agenesis of the corpus callosum. Ultrasound Obstet Gynecol. 46(5):595-9, 2015
                                            8. Edwards TJ et al: Clinical, genetic and imaging findings identify new causes for corpus callosum development syndromes. Brain. 137(Pt 6):1579-613, 2014
                                            9. Palmer EE et al: Agenesis of the corpus callosum: a clinical approach to diagnosis. Am J Med Genet C Semin Med Genet. 166C(2):184-97, 2014
                                            10. Díaz-Guerrero L et al: Assessment of pericallosal arteries by color Doppler ultrasonography at 11-14 weeks: an early marker of fetal corpus callosum development in normal fetuses and agenesis in cases with chromosomal anomalies. Fetal Diagn Ther. 34(2):85-9, 2013
                                            11. Ho ML et al: Lesions of the corpus callosum. AJR Am J Roentgenol. 200(1):W1-16, 2013
                                            12. Paladini D et al: Agenesis of the fetal corpus callosum: sonographic signs change with advancing gestational age. Ultrasound Obstet Gynecol. 42(6):687-90, 2013
                                            13. Barkovich AJ et al: Pediatric Neuroimaging: 5th Edition. Lippincott Williams & Wilkins. 368-82, 2012
                                            14. Santo S et al: Counseling in fetal medicine: agenesis of the corpus callosum. Ultrasound Obstet Gynecol. 40(5):513-21, 2012
                                            15. Hanna RM et al: Distinguishing 3 classes of corpus callosal abnormalities in consanguineous families. Neurology. 76(4):373-82, 2011
                                            16. Thompson DK et al: Characterization of the corpus callosum in very preterm and full-term infants utilizing MRI. Neuroimage. 55(2):479-90, 2011
                                            17. Ghi T et al: Prenatal diagnosis and outcome of partial agenesis and hypoplasia of the corpus callosum. Ultrasound Obstet Gynecol. 35(1):35-41, 2010
                                            18. Raybaud C: The corpus callosum, the other great forebrain commissures, and the septum pellucidum: anatomy, development, and malformation. Neuroradiology. 52(6):447-77, 2010
                                            19. Tang PH et al: Agenesis of the corpus callosum: an MR imaging analysis of associated abnormalities in the fetus. AJNR Am J Neuroradiol. 30(2):257-63, 2009
                                            20. Hopkins B et al. Neuroimaging aspects of Aicardi syndrome. Am J Med Genet A. 146A(22):2871-8, 2008
                                            21. Hetts SW et al: Anomalies of the corpus callosum: an MR analysis of the phenotypic spectrum of associated malformations. AJR Am J Roentgenol. 187(5):1343-8, 2006
                                            22. Sztriha L: Spectrum of corpus callosum agenesis. Pediatr Neurol. 32(2):94-101, 2005
                                            23. Lee SK et al: Diffusion tensor MR imaging visualizes the altered hemispheric fiber connection in callosal dysgenesis. AJNR Am J Neuroradiol. 25(1):25-8, 2004
                                            24. Küker W et al: Malformations of the midline commissures: MRI findings in different forms of callosal dysgenesis. Eur Radiol. 13(3):598-604, 2003
                                            25. Barkovich AJ et al: Callosal agenesis with cyst: A better understanding and new classification. Neurology. 23;56(2):220-7, 2002
                                            26. Sato N et al: MR evaluation of the hippocampus in patients with congenital malformations of the brain. AJNR Am J Neuroradiol. 22(2):389-93, 2001
                                            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

                                                          • Heterogeneous condition of congenital hypoplasia/dysplasia or absence of corpus callosum
                                                          • Complete agenesis of corpus callosum (ACC)
                                                            • Agenesis of CC & hippocampal commissure with presence of anterior commissure: Most common
                                                            • ACC with presence of anterior & hippocampal commissures
                                                            • Tricommissural agenesis: Complete absence of CC, anterior commissure, & hippocampal commissure
                                                          • Dysgenesis of corpus callosum
                                                            • Hypogenesis of corpus callosum (partial agenesis of corpus callosum)
                                                              • All 5 parts of CC are not present → shortening of CC in AP dimension
                                                            • Hypoplasia of corpus callosum
                                                              • Diffusely thin CC with normal AP length & all parts present

                                                        IMAGING

                                                        • General Features

                                                          • Radiographic Findings

                                                            • CT Findings

                                                              • MR Findings

                                                                • Ultrasonographic Findings

                                                                  • Imaging Recommendations

                                                                    DIFFERENTIAL DIAGNOSIS

                                                                      PATHOLOGY

                                                                      • General Features

                                                                        • Staging, Grading, & Classification

                                                                          • Gross Pathologic & Surgical Features

                                                                            CLINICAL ISSUES

                                                                            • Presentation

                                                                              • Demographics

                                                                                • Treatment

                                                                                  DIAGNOSTIC CHECKLIST

                                                                                  • Consider

                                                                                    • Image Interpretation Pearls

                                                                                      Selected References

                                                                                      1. Sileo FG et al: Role of prenatal magnetic resonance imaging in fetuses with isolated agenesis of corpus callosum in the era of fetal neurosonography: a systematic review and meta-analysis. Acta Obstet Gynecol Scand. 100(1):7-16, 2021
                                                                                      2. Yang E et al: A practical approach to supratentorial brain malformations: what radiologists should know. Radiol Clin North Am. 55(4):609-27, 2017
                                                                                      3. Cesaretti C et al: Variability of forebrain commissures in callosal agenesis: a prenatal MR imaging study. AJNR Am J Neuroradiol. 37(3):521-7, 2016
                                                                                      4. Wiechec M et al: Four steps in diagnosing complete agenesis of the corpus callosum in prenatal life. Ultraschall Med. 37(1):92-9, 2016
                                                                                      5. Neal JB et al: Morphometric variability of neuroimaging features in children with agenesis of the corpus callosum. BMC Neurol. 15:116, 2015
                                                                                      6. Rüland AM et al: Prenatal diagnosis of anomalies of the corpus callosum over a 13-year period. Ultraschall Med. 37(6):598-603, 2016
                                                                                      7. Shen O et al: Abnormal shape of the cavum septi pellucidi: an indirect sign of partial agenesis of the corpus callosum. Ultrasound Obstet Gynecol. 46(5):595-9, 2015
                                                                                      8. Edwards TJ et al: Clinical, genetic and imaging findings identify new causes for corpus callosum development syndromes. Brain. 137(Pt 6):1579-613, 2014
                                                                                      9. Palmer EE et al: Agenesis of the corpus callosum: a clinical approach to diagnosis. Am J Med Genet C Semin Med Genet. 166C(2):184-97, 2014
                                                                                      10. Díaz-Guerrero L et al: Assessment of pericallosal arteries by color Doppler ultrasonography at 11-14 weeks: an early marker of fetal corpus callosum development in normal fetuses and agenesis in cases with chromosomal anomalies. Fetal Diagn Ther. 34(2):85-9, 2013
                                                                                      11. Ho ML et al: Lesions of the corpus callosum. AJR Am J Roentgenol. 200(1):W1-16, 2013
                                                                                      12. Paladini D et al: Agenesis of the fetal corpus callosum: sonographic signs change with advancing gestational age. Ultrasound Obstet Gynecol. 42(6):687-90, 2013
                                                                                      13. Barkovich AJ et al: Pediatric Neuroimaging: 5th Edition. Lippincott Williams & Wilkins. 368-82, 2012
                                                                                      14. Santo S et al: Counseling in fetal medicine: agenesis of the corpus callosum. Ultrasound Obstet Gynecol. 40(5):513-21, 2012
                                                                                      15. Hanna RM et al: Distinguishing 3 classes of corpus callosal abnormalities in consanguineous families. Neurology. 76(4):373-82, 2011
                                                                                      16. Thompson DK et al: Characterization of the corpus callosum in very preterm and full-term infants utilizing MRI. Neuroimage. 55(2):479-90, 2011
                                                                                      17. Ghi T et al: Prenatal diagnosis and outcome of partial agenesis and hypoplasia of the corpus callosum. Ultrasound Obstet Gynecol. 35(1):35-41, 2010
                                                                                      18. Raybaud C: The corpus callosum, the other great forebrain commissures, and the septum pellucidum: anatomy, development, and malformation. Neuroradiology. 52(6):447-77, 2010
                                                                                      19. Tang PH et al: Agenesis of the corpus callosum: an MR imaging analysis of associated abnormalities in the fetus. AJNR Am J Neuroradiol. 30(2):257-63, 2009
                                                                                      20. Hopkins B et al. Neuroimaging aspects of Aicardi syndrome. Am J Med Genet A. 146A(22):2871-8, 2008
                                                                                      21. Hetts SW et al: Anomalies of the corpus callosum: an MR analysis of the phenotypic spectrum of associated malformations. AJR Am J Roentgenol. 187(5):1343-8, 2006
                                                                                      22. Sztriha L: Spectrum of corpus callosum agenesis. Pediatr Neurol. 32(2):94-101, 2005
                                                                                      23. Lee SK et al: Diffusion tensor MR imaging visualizes the altered hemispheric fiber connection in callosal dysgenesis. AJNR Am J Neuroradiol. 25(1):25-8, 2004
                                                                                      24. Küker W et al: Malformations of the midline commissures: MRI findings in different forms of callosal dysgenesis. Eur Radiol. 13(3):598-604, 2003
                                                                                      25. Barkovich AJ et al: Callosal agenesis with cyst: A better understanding and new classification. Neurology. 23;56(2):220-7, 2002
                                                                                      26. Sato N et al: MR evaluation of the hippocampus in patients with congenital malformations of the brain. AJNR Am J Neuroradiol. 22(2):389-93, 2001