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Septo-Optic Dysplasia
Luke L. Linscott, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Clinical Issues

        • Diagnostic Checklist

          • Scanning Tips

            TERMINOLOGY

            • Abbreviations

              • Septo-optic dysplasia (SOD)
            • Synonyms

              • De Morsier syndrome
              • Kaplan-Grumbach-Hoyt syndrome
              • Suprasellar dysgenesis
              • Septo-optic-pituitary dysgenesis
            • Definitions

              • Heterogeneous association characterized by optic nerve hypoplasia (ONH), absent septum pellucidum, hypothalamic-pituitary dysfunction
                • De Morsier (1956): Described 7 patients with SOD
                • Hoyt (1978): Described association of SOD with hypopituitarism
              • SOD plus: SOD + polymicrogyria &/or schizencephaly

            IMAGING

            • General Features

              • CT Findings

                • MR Findings

                  • Angiographic Findings

                    • Imaging Recommendations

                      DIFFERENTIAL DIAGNOSIS

                        PATHOLOGY

                        • General Features

                          • Staging, Grading, & Classification

                            • Gross Pathologic & Surgical Features

                              • Microscopic Features

                                CLINICAL ISSUES

                                • Presentation

                                  • Demographics

                                    • Natural History & Prognosis

                                      • Treatment

                                        DIAGNOSTIC CHECKLIST

                                        • Consider

                                          • Image Interpretation Pearls

                                            Selected References

                                            1. Dahl S et al: High prevalence of pituitary hormone deficiency in both unilateral and bilateral optic nerve hypoplasia. Acta Paediatr. ePub, 2019
                                            2. Benson JC et al: Septo-optic dysplasia: assessment of associated findings with special attention to the olfactory sulci and tracts. Clin Neuroradiol. ePub, 2018
                                            3. Qian X et al: Neuroimaging and endocrine disorders in paediatric optic nerve hypoplasia. Br J Ophthalmol. 102(7):906-10, 2018
                                            4. Alt C et al: Clinical and Radiologic spectrum of septo-optic dysplasia: review of 17 cases. J Child Neurol. 883073817707300, 2017
                                            5. 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
                                            6. Lenhart PD et al: The role of magnetic resonance imaging in diagnosing optic nerve hypoplasia. Am J Ophthalmol. 158(6):1164-71.e2, 2014
                                            7. Severino M et al: Midbrain-hindbrain involvement in septo-optic dysplasia. AJNR Am J Neuroradiol. 35(8):1586-92, 2014
                                            8. 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
                                            9. García-Arreza A et al: Isolated absence of septum pellucidum: prenatal diagnosis and outcome. Fetal Diagn Ther. 33(2):130-2, 2013
                                            10. Raivio T et al: Genetic overlap in Kallmann syndrome, combined pituitary hormone deficiency, and septo-optic dysplasia. J Clin Endocrinol Metab. 97(4):E694-9, 2012
                                            11. Signorini SG et al: Septo-optic dysplasia in childhood: the neurological, cognitive and neuro-ophthalmological perspective. Dev Med Child Neurol. 54(11):1018-24, 2012
                                            12. Volpe P et al: Disorders of prosencephalic development. Prenat Diagn. 29(4):340-354, 2009
                                            13. Borchert M et al: The syndrome of optic nerve hypoplasia. Curr Neurol Neurosci Rep. 8(5):395-403, 2008
                                            14. Hung JH et al: Prenatal diagnosis of schizencephaly with septo-optic dysplasia by ultrasound and magnetic resonance imaging. J Obstet Gynaecol Res. 34(4 Pt 2):674-9, 2008
                                            15. Riedl S et al: Refining clinical phenotypes in septo-optic dysplasia based on MRI findings. Eur J Pediatr. 167(11):1269-76, 2008
                                            16. Camino R et al: Septo-optic dysplasia plus. Lancet Neurol. 2(7):436, 2003
                                            17. Campbell CL: Septo-optic dysplasia: a literature review. Optometry. 74(7):417-26, 2003
                                            18. Tajima T et al: Sporadic heterozygous frameshift mutation of HESX1 causing pituitary and optic nerve hypoplasia and combined pituitary hormone deficiency in a Japanese patient. J Clin Endocrinol Metab. 88(1):45-50, 2003
                                            19. Dattani ML et al: Molecular genetics of septo-optic dysplasia. Horm Res. 53 Suppl 1:26-33, 2000
                                            20. Miller SP et al: Septo-optic dysplasia plus: a spectrum of malformations of cortical development. Neurology. 54(8):1701-3, 2000
                                            Related Anatomy
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                                            Related Differential Diagnoses
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                                            References
                                            Tables

                                            Tables

                                            KEY FACTS

                                            • Terminology

                                              • Imaging

                                                • Clinical Issues

                                                  • Diagnostic Checklist

                                                    • Scanning Tips

                                                      TERMINOLOGY

                                                      • Abbreviations

                                                        • Septo-optic dysplasia (SOD)
                                                      • Synonyms

                                                        • De Morsier syndrome
                                                        • Kaplan-Grumbach-Hoyt syndrome
                                                        • Suprasellar dysgenesis
                                                        • Septo-optic-pituitary dysgenesis
                                                      • Definitions

                                                        • Heterogeneous association characterized by optic nerve hypoplasia (ONH), absent septum pellucidum, hypothalamic-pituitary dysfunction
                                                          • De Morsier (1956): Described 7 patients with SOD
                                                          • Hoyt (1978): Described association of SOD with hypopituitarism
                                                        • SOD plus: SOD + polymicrogyria &/or schizencephaly

                                                      IMAGING

                                                      • General Features

                                                        • CT Findings

                                                          • MR Findings

                                                            • Angiographic Findings

                                                              • Imaging Recommendations

                                                                DIFFERENTIAL DIAGNOSIS

                                                                  PATHOLOGY

                                                                  • General Features

                                                                    • Staging, Grading, & Classification

                                                                      • Gross Pathologic & Surgical Features

                                                                        • Microscopic Features

                                                                          CLINICAL ISSUES

                                                                          • Presentation

                                                                            • Demographics

                                                                              • Natural History & Prognosis

                                                                                • Treatment

                                                                                  DIAGNOSTIC CHECKLIST

                                                                                  • Consider

                                                                                    • Image Interpretation Pearls

                                                                                      Selected References

                                                                                      1. Dahl S et al: High prevalence of pituitary hormone deficiency in both unilateral and bilateral optic nerve hypoplasia. Acta Paediatr. ePub, 2019
                                                                                      2. Benson JC et al: Septo-optic dysplasia: assessment of associated findings with special attention to the olfactory sulci and tracts. Clin Neuroradiol. ePub, 2018
                                                                                      3. Qian X et al: Neuroimaging and endocrine disorders in paediatric optic nerve hypoplasia. Br J Ophthalmol. 102(7):906-10, 2018
                                                                                      4. Alt C et al: Clinical and Radiologic spectrum of septo-optic dysplasia: review of 17 cases. J Child Neurol. 883073817707300, 2017
                                                                                      5. 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
                                                                                      6. Lenhart PD et al: The role of magnetic resonance imaging in diagnosing optic nerve hypoplasia. Am J Ophthalmol. 158(6):1164-71.e2, 2014
                                                                                      7. Severino M et al: Midbrain-hindbrain involvement in septo-optic dysplasia. AJNR Am J Neuroradiol. 35(8):1586-92, 2014
                                                                                      8. 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
                                                                                      9. García-Arreza A et al: Isolated absence of septum pellucidum: prenatal diagnosis and outcome. Fetal Diagn Ther. 33(2):130-2, 2013
                                                                                      10. Raivio T et al: Genetic overlap in Kallmann syndrome, combined pituitary hormone deficiency, and septo-optic dysplasia. J Clin Endocrinol Metab. 97(4):E694-9, 2012
                                                                                      11. Signorini SG et al: Septo-optic dysplasia in childhood: the neurological, cognitive and neuro-ophthalmological perspective. Dev Med Child Neurol. 54(11):1018-24, 2012
                                                                                      12. Volpe P et al: Disorders of prosencephalic development. Prenat Diagn. 29(4):340-354, 2009
                                                                                      13. Borchert M et al: The syndrome of optic nerve hypoplasia. Curr Neurol Neurosci Rep. 8(5):395-403, 2008
                                                                                      14. Hung JH et al: Prenatal diagnosis of schizencephaly with septo-optic dysplasia by ultrasound and magnetic resonance imaging. J Obstet Gynaecol Res. 34(4 Pt 2):674-9, 2008
                                                                                      15. Riedl S et al: Refining clinical phenotypes in septo-optic dysplasia based on MRI findings. Eur J Pediatr. 167(11):1269-76, 2008
                                                                                      16. Camino R et al: Septo-optic dysplasia plus. Lancet Neurol. 2(7):436, 2003
                                                                                      17. Campbell CL: Septo-optic dysplasia: a literature review. Optometry. 74(7):417-26, 2003
                                                                                      18. Tajima T et al: Sporadic heterozygous frameshift mutation of HESX1 causing pituitary and optic nerve hypoplasia and combined pituitary hormone deficiency in a Japanese patient. J Clin Endocrinol Metab. 88(1):45-50, 2003
                                                                                      19. Dattani ML et al: Molecular genetics of septo-optic dysplasia. Horm Res. 53 Suppl 1:26-33, 2000
                                                                                      20. Miller SP et al: Septo-optic dysplasia plus: a spectrum of malformations of cortical development. Neurology. 54(8):1701-3, 2000