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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
- Heterogeneous association characterized by optic nerve hypoplasia (ONH), absent septum pellucidum, hypothalamic-pituitary dysfunction
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
- Dahl S et al: High prevalence of pituitary hormone deficiency in both unilateral and bilateral optic nerve hypoplasia. Acta Paediatr. ePub, 2019
- Benson JC et al: Septo-optic dysplasia: assessment of associated findings with special attention to the olfactory sulci and tracts. Clin Neuroradiol. ePub, 2018
- Qian X et al: Neuroimaging and endocrine disorders in paediatric optic nerve hypoplasia. Br J Ophthalmol. 102(7):906-10, 2018
- Alt C et al: Clinical and Radiologic spectrum of septo-optic dysplasia: review of 17 cases. J Child Neurol. 883073817707300, 2017
- 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
- Lenhart PD et al: The role of magnetic resonance imaging in diagnosing optic nerve hypoplasia. Am J Ophthalmol. 158(6):1164-71.e2, 2014
- Severino M et al: Midbrain-hindbrain involvement in septo-optic dysplasia. AJNR Am J Neuroradiol. 35(8):1586-92, 2014
- 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
- García-Arreza A et al: Isolated absence of septum pellucidum: prenatal diagnosis and outcome. Fetal Diagn Ther. 33(2):130-2, 2013
- 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
- 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
- Volpe P et al: Disorders of prosencephalic development. Prenat Diagn. 29(4):340-354, 2009
- Borchert M et al: The syndrome of optic nerve hypoplasia. Curr Neurol Neurosci Rep. 8(5):395-403, 2008
- 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
- Riedl S et al: Refining clinical phenotypes in septo-optic dysplasia based on MRI findings. Eur J Pediatr. 167(11):1269-76, 2008
- Camino R et al: Septo-optic dysplasia plus. Lancet Neurol. 2(7):436, 2003
- Campbell CL: Septo-optic dysplasia: a literature review. Optometry. 74(7):417-26, 2003
- 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
- Dattani ML et al: Molecular genetics of septo-optic dysplasia. Horm Res. 53 Suppl 1:26-33, 2000
- Miller SP et al: Septo-optic dysplasia plus: a spectrum of malformations of cortical development. Neurology. 54(8):1701-3, 2000
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References
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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
- Heterogeneous association characterized by optic nerve hypoplasia (ONH), absent septum pellucidum, hypothalamic-pituitary dysfunction
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
- Dahl S et al: High prevalence of pituitary hormone deficiency in both unilateral and bilateral optic nerve hypoplasia. Acta Paediatr. ePub, 2019
- Benson JC et al: Septo-optic dysplasia: assessment of associated findings with special attention to the olfactory sulci and tracts. Clin Neuroradiol. ePub, 2018
- Qian X et al: Neuroimaging and endocrine disorders in paediatric optic nerve hypoplasia. Br J Ophthalmol. 102(7):906-10, 2018
- Alt C et al: Clinical and Radiologic spectrum of septo-optic dysplasia: review of 17 cases. J Child Neurol. 883073817707300, 2017
- 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
- Lenhart PD et al: The role of magnetic resonance imaging in diagnosing optic nerve hypoplasia. Am J Ophthalmol. 158(6):1164-71.e2, 2014
- Severino M et al: Midbrain-hindbrain involvement in septo-optic dysplasia. AJNR Am J Neuroradiol. 35(8):1586-92, 2014
- 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
- García-Arreza A et al: Isolated absence of septum pellucidum: prenatal diagnosis and outcome. Fetal Diagn Ther. 33(2):130-2, 2013
- 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
- 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
- Volpe P et al: Disorders of prosencephalic development. Prenat Diagn. 29(4):340-354, 2009
- Borchert M et al: The syndrome of optic nerve hypoplasia. Curr Neurol Neurosci Rep. 8(5):395-403, 2008
- 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
- Riedl S et al: Refining clinical phenotypes in septo-optic dysplasia based on MRI findings. Eur J Pediatr. 167(11):1269-76, 2008
- Camino R et al: Septo-optic dysplasia plus. Lancet Neurol. 2(7):436, 2003
- Campbell CL: Septo-optic dysplasia: a literature review. Optometry. 74(7):417-26, 2003
- 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
- Dattani ML et al: Molecular genetics of septo-optic dysplasia. Horm Res. 53 Suppl 1:26-33, 2000
- Miller SP et al: Septo-optic dysplasia plus: a spectrum of malformations of cortical development. Neurology. 54(8):1701-3, 2000
