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Septo-Optic Dysplasia
Anne M. Kennedy, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Clinical Issues

          • Diagnostic Checklist

            TERMINOLOGY

            • Abbreviations

              • Septo-optic dysplasia (SOD)
            • Definitions

              • Association of optic nerve hypoplasia (ONH) with midline brain malformations ± hypopituitarism
              • Recent studies suggest that ONH, hypopituitarism, and absent septum pellucidum, though frequently associated under umbrella term of SOD, do not have embryologic linkage
                • ONH is leading cause of congenital blindness
                • Children with ONH require careful monitoring for associated conditions
                  • Terms SOD and De Morsier syndrome are historically inaccurate and clinically misleading
              • SOD plus: Term coined for cases with additional brain malformations
                • May just reflect association of ONH, endocrine dysfunction, and developmental delay with complex brain malformation

            IMAGING

            • General Features

              • Ultrasonographic Findings

                • MR Findings

                  • Imaging Recommendations

                    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. Cemeroglu AP et al: Spectrum of clinical presentations and endocrinological findings of patients with septo-optic dysplasia: a retrospective study. J Pediatr Endocrinol Metab. 28(9-10):1057-63, 2015
                                    2. Cagneaux M et al: From cavum septi pellucidi to anterior complex: how to improve detection of midline cerebral abnormalities. Ultrasound Obstet Gynecol. 42(4):485-6, 2013
                                    3. Garcia-Filion P et al: Optic nerve hypoplasia syndrome: a review of the epidemiology and clinical associations. Curr Treat Options Neurol. 15(1):78-89, 2013
                                    4. Garcia-Filion P et al: Prenatal determinants of optic nerve hypoplasia: review of suggested correlates and future focus. Surv Ophthalmol. 58(6):610-9, 2013
                                    5. Bault JP et al: Role of three-dimensional ultrasound measurement of the optic tract in fetuses with agenesis of the septum pellucidum. Ultrasound Obstet Gynecol. 37(5):570-5, 2011
                                    6. Haratz K et al: Fetal optic nerve sheath measurement as a non-invasive tool for assessment of increased intracranial pressure. Ultrasound Obstet Gynecol. 38(6):646-51, 2011
                                    7. Garcia-Filion P et al: Optic nerve hypoplasia in North America: a re-appraisal of perinatal risk factors. Acta Ophthalmol. 88(5):527-34, 2010
                                    8. Parr JR et al: Social communication difficulties and autism spectrum disorder in young children with optic nerve hypoplasia and/or septo-optic dysplasia. Dev Med Child Neurol. Epub ahead of print, 2010
                                    9. Salmela MB et al: Magnetic resonance diffusion tensor imaging (MRDTI) and tractography in children with septo-optic dysplasia. Pediatr Radiol. 40(5):708-13, 2010
                                    10. Webb EA et al: Septo-optic dysplasia. Eur J Hum Genet. 18(4):393-7, 2010
                                    11. Winter TC et al: The cavum septi pellucidi: why is it important? J Ultrasound Med. 29(3):427-44, 2010
                                    12. Bault JP: Visualization of the fetal optic chiasma using three-dimensional ultrasound imaging. Ultrasound Obstet Gynecol. 28(6):862-4, 2006
                                    13. Camino R et al: Septo-optic dysplasia plus. Lancet Neurol. 2(7):436, 2003
                                    14. Campbell CL: Septo-optic dysplasia: a literature review. Optometry. 74(7):417-26, 2003
                                    15. Cohen RN et al: Enhanced repression by HESX1 as a cause of hypopituitarism and septooptic dysplasia. J Clin Endocrinol Metab. 88(10):4832-9, 2003
                                    16. Gasparetto EL et al: Septo-optic dysplasia plus: case report. Arq Neuropsiquiatr. 61(3A):671-6, 2003
                                    17. Minami K et al: Septo-optic dysplasia with congenital hepatic fibrosis. Pediatr Neurol. 29(2):157-9, 2003
                                    18. Orrico A et al: Septo-optic dysplasia with digital anomalies associated with maternal multidrug abuse during pregnancy. Eur J Neurol. 9(6):679-82, 2002
                                    19. Parker KL et al: Septo-optic dysplasia/optic nerve hypoplasia: data from the National Cooperative Growth Study (NCGS). J Pediatr Endocrinol Metab. 15 Suppl 2:697-700, 2002
                                    20. McMahon CL et al: Septo-optic dysplasia as a manifestation of valproic acid embryopathy. Teratology. 64(2):83-6, 2001
                                    21. Miller SP et al: Septo-optic dysplasia plus: a spectrum of malformations of cortical development. Neurology. 54(8):1701-3, 2000
                                    22. Tanaka T et al: Genetics of brain development and malformation syndromes. Curr Opin Pediatr. 12(6):523-8, 2000
                                    23. Lubinsky MS: Hypothesis: septo-optic dysplasia is a vascular disruption sequence. Am J Med Genet. 69(3):235-6, 1997
                                    24. Sener RN: Septo-optic dysplasia associated with cerebral cortical dysplasia (cortico-septo-optic dysplasia). J Neuroradiol. 23(4):245-7, 1996
                                    Related Anatomy
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                                    Related Differential Diagnoses
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                                    References
                                    Tables

                                    Tables

                                    KEY FACTS

                                    • Terminology

                                      • Imaging

                                        • Top Differential Diagnoses

                                          • Clinical Issues

                                            • Diagnostic Checklist

                                              TERMINOLOGY

                                              • Abbreviations

                                                • Septo-optic dysplasia (SOD)
                                              • Definitions

                                                • Association of optic nerve hypoplasia (ONH) with midline brain malformations ± hypopituitarism
                                                • Recent studies suggest that ONH, hypopituitarism, and absent septum pellucidum, though frequently associated under umbrella term of SOD, do not have embryologic linkage
                                                  • ONH is leading cause of congenital blindness
                                                  • Children with ONH require careful monitoring for associated conditions
                                                    • Terms SOD and De Morsier syndrome are historically inaccurate and clinically misleading
                                                • SOD plus: Term coined for cases with additional brain malformations
                                                  • May just reflect association of ONH, endocrine dysfunction, and developmental delay with complex brain malformation

                                              IMAGING

                                              • General Features

                                                • Ultrasonographic Findings

                                                  • MR Findings

                                                    • Imaging Recommendations

                                                      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. Cemeroglu AP et al: Spectrum of clinical presentations and endocrinological findings of patients with septo-optic dysplasia: a retrospective study. J Pediatr Endocrinol Metab. 28(9-10):1057-63, 2015
                                                                      2. Cagneaux M et al: From cavum septi pellucidi to anterior complex: how to improve detection of midline cerebral abnormalities. Ultrasound Obstet Gynecol. 42(4):485-6, 2013
                                                                      3. Garcia-Filion P et al: Optic nerve hypoplasia syndrome: a review of the epidemiology and clinical associations. Curr Treat Options Neurol. 15(1):78-89, 2013
                                                                      4. Garcia-Filion P et al: Prenatal determinants of optic nerve hypoplasia: review of suggested correlates and future focus. Surv Ophthalmol. 58(6):610-9, 2013
                                                                      5. Bault JP et al: Role of three-dimensional ultrasound measurement of the optic tract in fetuses with agenesis of the septum pellucidum. Ultrasound Obstet Gynecol. 37(5):570-5, 2011
                                                                      6. Haratz K et al: Fetal optic nerve sheath measurement as a non-invasive tool for assessment of increased intracranial pressure. Ultrasound Obstet Gynecol. 38(6):646-51, 2011
                                                                      7. Garcia-Filion P et al: Optic nerve hypoplasia in North America: a re-appraisal of perinatal risk factors. Acta Ophthalmol. 88(5):527-34, 2010
                                                                      8. Parr JR et al: Social communication difficulties and autism spectrum disorder in young children with optic nerve hypoplasia and/or septo-optic dysplasia. Dev Med Child Neurol. Epub ahead of print, 2010
                                                                      9. Salmela MB et al: Magnetic resonance diffusion tensor imaging (MRDTI) and tractography in children with septo-optic dysplasia. Pediatr Radiol. 40(5):708-13, 2010
                                                                      10. Webb EA et al: Septo-optic dysplasia. Eur J Hum Genet. 18(4):393-7, 2010
                                                                      11. Winter TC et al: The cavum septi pellucidi: why is it important? J Ultrasound Med. 29(3):427-44, 2010
                                                                      12. Bault JP: Visualization of the fetal optic chiasma using three-dimensional ultrasound imaging. Ultrasound Obstet Gynecol. 28(6):862-4, 2006
                                                                      13. Camino R et al: Septo-optic dysplasia plus. Lancet Neurol. 2(7):436, 2003
                                                                      14. Campbell CL: Septo-optic dysplasia: a literature review. Optometry. 74(7):417-26, 2003
                                                                      15. Cohen RN et al: Enhanced repression by HESX1 as a cause of hypopituitarism and septooptic dysplasia. J Clin Endocrinol Metab. 88(10):4832-9, 2003
                                                                      16. Gasparetto EL et al: Septo-optic dysplasia plus: case report. Arq Neuropsiquiatr. 61(3A):671-6, 2003
                                                                      17. Minami K et al: Septo-optic dysplasia with congenital hepatic fibrosis. Pediatr Neurol. 29(2):157-9, 2003
                                                                      18. Orrico A et al: Septo-optic dysplasia with digital anomalies associated with maternal multidrug abuse during pregnancy. Eur J Neurol. 9(6):679-82, 2002
                                                                      19. Parker KL et al: Septo-optic dysplasia/optic nerve hypoplasia: data from the National Cooperative Growth Study (NCGS). J Pediatr Endocrinol Metab. 15 Suppl 2:697-700, 2002
                                                                      20. McMahon CL et al: Septo-optic dysplasia as a manifestation of valproic acid embryopathy. Teratology. 64(2):83-6, 2001
                                                                      21. Miller SP et al: Septo-optic dysplasia plus: a spectrum of malformations of cortical development. Neurology. 54(8):1701-3, 2000
                                                                      22. Tanaka T et al: Genetics of brain development and malformation syndromes. Curr Opin Pediatr. 12(6):523-8, 2000
                                                                      23. Lubinsky MS: Hypothesis: septo-optic dysplasia is a vascular disruption sequence. Am J Med Genet. 69(3):235-6, 1997
                                                                      24. Sener RN: Septo-optic dysplasia associated with cerebral cortical dysplasia (cortico-septo-optic dysplasia). J Neuroradiol. 23(4):245-7, 1996