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Callosal Anomalies
Usha D. Nagaraj, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            TERMINOLOGY

            • Abbreviations

              • Agenesis of corpus callosum (ACC)
              • Hypogenesis of corpus callosum (HCC)
            • Definitions

              • Heterogeneous condition of congenital hypoplasia/dysplasia or absence of corpus callosum (CC)
              • Various & overlapping terms used for CC anomalies outside of complete agenesis/absence
                • Hypoplasia implies thin CC with normal shape
                • Partial agenesis, dysplasia imply truncation or abnormal morphology otherwise
                • Hypogenesis, dysgenesis may encompass all variations

            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

                                      • Image Interpretation Pearls

                                        Selected References

                                        1. Wiechec M et al: Four steps in diagnosing complete agenesis of the corpus callosum in prenatal life. Ultraschall Med. 37(1):92-9, 2016
                                        2. Neal JB et al: Morphometric variability of neuroimaging features in Children with Agenesis of the Corpus Callosum. BMC Neurol. 15:116, 2015
                                        3. Rüland AM et al: Prenatal diagnosis of anomalies of the corpus callosum over a 13-year period. Ultraschall Med. ePub, 2015
                                        4. 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
                                        5. Edwards TJ et al: Clinical, genetic and imaging findings identify new causes for corpus callosum development syndromes. Brain. 137(Pt 6):1579-1613, 2014
                                        6. 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
                                        7. 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
                                        8. Ho ML et al: Lesions of the corpus callosum. AJR Am J Roentgenol. 200(1):W1-16, 2013
                                        9. 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
                                        10. Barkovich AJ et al: Pediatric Neuroimaging: 5th Edition. Philadelphia, PA: Lippincott Williams & Wilkins. 368-82, 2012
                                        11. Santo S et al: Counseling in fetal medicine: agenesis of the corpus callosum. Ultrasound Obstet Gynecol. 40(5):513-21, 2012
                                        12. Thompson DK et al: Characterization of the corpus callosum in very preterm and full-term infants utilizing MRI. Neuroimage. 55(2):479-90, 2011
                                        13. 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
                                        14. Raybaud C: The corpus callosum, the other great forebrain commissures, and the septum pellucidum: anatomy, development, and malformation. Neuroradiology. 52(6):447-77, 2010
                                        15. 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
                                        16. 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
                                        17. Aicardi J: Aicardi syndrome. Brain Dev. 27(3):164-71, 2005
                                        18. Sztriha L: Spectrum of corpus callosum agenesis. Pediatr Neurol. 32(2):94-101, 2005
                                        19. 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
                                        20. Küker W et al: Malformations of the midline commissures: MRI findings in different forms of callosal dysgenesis. Eur Radiol. 13(3):598-604, 2003
                                        21. Barkovich AJ et al: Callosal agenesis with cyst: A better understanding and new classification. Neurology. 23;56(2):220-7, 2002
                                        22. 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
                                        23. Kier EL et al: The lamina rostralis: modification of concepts concerning the anatomy, embryology, and MR appearance of the rostrum of the corpus callosum. AJNR Am J Neuroradiol. 18(4):715-22, 1997
                                        24. Kier EL et al: The normal and abnormal genu of the corpus callosum: an evolutionary, embryologic, anatomic, and MR analysis. AJNR Am J Neuroradiol. 17(9):1631-41, 1996
                                        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

                                                  TERMINOLOGY

                                                  • Abbreviations

                                                    • Agenesis of corpus callosum (ACC)
                                                    • Hypogenesis of corpus callosum (HCC)
                                                  • Definitions

                                                    • Heterogeneous condition of congenital hypoplasia/dysplasia or absence of corpus callosum (CC)
                                                    • Various & overlapping terms used for CC anomalies outside of complete agenesis/absence
                                                      • Hypoplasia implies thin CC with normal shape
                                                      • Partial agenesis, dysplasia imply truncation or abnormal morphology otherwise
                                                      • Hypogenesis, dysgenesis may encompass all variations

                                                  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

                                                                            • Image Interpretation Pearls

                                                                              Selected References

                                                                              1. Wiechec M et al: Four steps in diagnosing complete agenesis of the corpus callosum in prenatal life. Ultraschall Med. 37(1):92-9, 2016
                                                                              2. Neal JB et al: Morphometric variability of neuroimaging features in Children with Agenesis of the Corpus Callosum. BMC Neurol. 15:116, 2015
                                                                              3. Rüland AM et al: Prenatal diagnosis of anomalies of the corpus callosum over a 13-year period. Ultraschall Med. ePub, 2015
                                                                              4. 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
                                                                              5. Edwards TJ et al: Clinical, genetic and imaging findings identify new causes for corpus callosum development syndromes. Brain. 137(Pt 6):1579-1613, 2014
                                                                              6. 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
                                                                              7. 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
                                                                              8. Ho ML et al: Lesions of the corpus callosum. AJR Am J Roentgenol. 200(1):W1-16, 2013
                                                                              9. 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
                                                                              10. Barkovich AJ et al: Pediatric Neuroimaging: 5th Edition. Philadelphia, PA: Lippincott Williams & Wilkins. 368-82, 2012
                                                                              11. Santo S et al: Counseling in fetal medicine: agenesis of the corpus callosum. Ultrasound Obstet Gynecol. 40(5):513-21, 2012
                                                                              12. Thompson DK et al: Characterization of the corpus callosum in very preterm and full-term infants utilizing MRI. Neuroimage. 55(2):479-90, 2011
                                                                              13. 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
                                                                              14. Raybaud C: The corpus callosum, the other great forebrain commissures, and the septum pellucidum: anatomy, development, and malformation. Neuroradiology. 52(6):447-77, 2010
                                                                              15. 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
                                                                              16. 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
                                                                              17. Aicardi J: Aicardi syndrome. Brain Dev. 27(3):164-71, 2005
                                                                              18. Sztriha L: Spectrum of corpus callosum agenesis. Pediatr Neurol. 32(2):94-101, 2005
                                                                              19. 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
                                                                              20. Küker W et al: Malformations of the midline commissures: MRI findings in different forms of callosal dysgenesis. Eur Radiol. 13(3):598-604, 2003
                                                                              21. Barkovich AJ et al: Callosal agenesis with cyst: A better understanding and new classification. Neurology. 23;56(2):220-7, 2002
                                                                              22. 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
                                                                              23. Kier EL et al: The lamina rostralis: modification of concepts concerning the anatomy, embryology, and MR appearance of the rostrum of the corpus callosum. AJNR Am J Neuroradiol. 18(4):715-22, 1997
                                                                              24. Kier EL et al: The normal and abnormal genu of the corpus callosum: an evolutionary, embryologic, anatomic, and MR analysis. AJNR Am J Neuroradiol. 17(9):1631-41, 1996