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Septooptic Dysplasia
A. James Barkovich, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Clinical Issues

        • Diagnostic Checklist

          TERMINOLOGY

          • Abbreviations

            • Septooptic dysplasia (SOD)
          • Synonyms

            • De Morsier syndrome
            • Kaplan-Grumbach-Hoyt syndrome
            • Suprasellar dysgenesis
            • Septooptic-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
            • Some authors consider SOD and lobar holoprosencephaly to overlap
            • SOD plus: Abnormal optic nerves/chiasm, septum pellucidum, pituitary gland, plus cortical dysplasias

          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. Cemeroglu AP et al: Spectrum of clinical presentations and endocrinological findings of patients with septo-optic dysplasia: a retrospective study. J Pediatr Endocrinol Metab. ePub, 2015
                                          2. Winter TC et al: Holoprosencephaly: a survey of the entity, with embryology and fetal imaging. Radiographics. 35(1):275-90, 2015
                                          3. Severino M et al: Midbrain-hindbrain involvement in septo-optic dysplasia. AJNR Am J Neuroradiol. 35(8):1586-92, 2014
                                          4. 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
                                          5. García-Arreza A et al: Isolated absence of septum pellucidum: prenatal diagnosis and outcome. Fetal Diagn Ther. 33(2):130-2, 2013
                                          6. Bancalari RE et al: Pituitary gland development: an update. Endocr Dev. 23:1-15, 2012
                                          7. 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
                                          8. 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
                                          9. Volpe P et al: Disorders of prosencephalic development. Prenat Diagn. 29(4):340-354, 2009
                                          10. Borchert M et al: The syndrome of optic nerve hypoplasia. Curr Neurol Neurosci Rep. 8(5):395-403, 2008
                                          11. 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
                                          12. Riedl S et al: Refining clinical phenotypes in septo-optic dysplasia based on MRI findings. Eur J Pediatr. 167(11):1269-76, 2008
                                          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. 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
                                          16. Wakeling EL et al: Septo-optic dysplasia, subglottic stenosis and skeletal abnormalities: a case report. Clin Dysmorphol. 12(2):105-7, 2003
                                          17. Antonini SR et al: Cerebral midline developmental anomalies: endocrine, neuroradiographic and ophthalmological features. J Pediatr Endocrinol Metab. 15(9):1525-30, 2002
                                          18. Dattani ML et al: Molecular genetics of septo-optic dysplasia. Horm Res. 53 Suppl 1:26-33, 2000
                                          19. 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

                                                  TERMINOLOGY

                                                  • Abbreviations

                                                    • Septooptic dysplasia (SOD)
                                                  • Synonyms

                                                    • De Morsier syndrome
                                                    • Kaplan-Grumbach-Hoyt syndrome
                                                    • Suprasellar dysgenesis
                                                    • Septooptic-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
                                                    • Some authors consider SOD and lobar holoprosencephaly to overlap
                                                    • SOD plus: Abnormal optic nerves/chiasm, septum pellucidum, pituitary gland, plus cortical dysplasias

                                                  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. Cemeroglu AP et al: Spectrum of clinical presentations and endocrinological findings of patients with septo-optic dysplasia: a retrospective study. J Pediatr Endocrinol Metab. ePub, 2015
                                                                                  2. Winter TC et al: Holoprosencephaly: a survey of the entity, with embryology and fetal imaging. Radiographics. 35(1):275-90, 2015
                                                                                  3. Severino M et al: Midbrain-hindbrain involvement in septo-optic dysplasia. AJNR Am J Neuroradiol. 35(8):1586-92, 2014
                                                                                  4. 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
                                                                                  5. García-Arreza A et al: Isolated absence of septum pellucidum: prenatal diagnosis and outcome. Fetal Diagn Ther. 33(2):130-2, 2013
                                                                                  6. Bancalari RE et al: Pituitary gland development: an update. Endocr Dev. 23:1-15, 2012
                                                                                  7. 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
                                                                                  8. 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
                                                                                  9. Volpe P et al: Disorders of prosencephalic development. Prenat Diagn. 29(4):340-354, 2009
                                                                                  10. Borchert M et al: The syndrome of optic nerve hypoplasia. Curr Neurol Neurosci Rep. 8(5):395-403, 2008
                                                                                  11. 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
                                                                                  12. Riedl S et al: Refining clinical phenotypes in septo-optic dysplasia based on MRI findings. Eur J Pediatr. 167(11):1269-76, 2008
                                                                                  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. 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
                                                                                  16. Wakeling EL et al: Septo-optic dysplasia, subglottic stenosis and skeletal abnormalities: a case report. Clin Dysmorphol. 12(2):105-7, 2003
                                                                                  17. Antonini SR et al: Cerebral midline developmental anomalies: endocrine, neuroradiographic and ophthalmological features. J Pediatr Endocrinol Metab. 15(9):1525-30, 2002
                                                                                  18. Dattani ML et al: Molecular genetics of septo-optic dysplasia. Horm Res. 53 Suppl 1:26-33, 2000
                                                                                  19. Miller SP et al: Septo-optic dysplasia plus: a spectrum of malformations of cortical development. Neurology. 54(8):1701-3, 2000