Title: Septo-Optic Dysplasia: A Case Report
Authors: Dr Harshita.H.S, Dr Pravin.G.U, Dr Javaji Ravi Prasad, Dr Parthasarathi.A
DOI: http://dx.doi.org/10.18535/jmscr/v4i2.65
Abstract
Septo-optic dysplasia also referred to as de Morsier syndrome and is a disorder of early brain development. Three characteristic features are under development (hypoplasia) of the optic nerve, abnormal formation of structures along the midline of the brain (such as absence of septum pellucidum and corpus callosum dysgenesis) and pituitary hypoplasia.
References
1. Sener RN. Septo-optic dysplasia associated with cerebral cortical dysplasia (cortico-septo-optic dysplasia). J Neuroradiol. 1996;23 (4): 245-7.
2. McNay DE, Turton JP, Kelberman D, et al. (2006). "HESX1 mutations are an uncommon cause of septo-optic dysplasia and hypopituitarism". J Clin Endocrinol Metab.92 (2): 691–7
3. Lau KY, Tam W, Lam PK, Wood BP. Radiological cases of the month. Septo-optic dysplasia (De Morsier syndrome). Am J Dis Child 1993 Jan;147:71-72.
4. Barkovich AJ, Fram EK, Norman D. Septo-optic dysplaisa: MR imaging. Radiology 1989;171:189-192.
5. Miller SP, Shevell MI, Patenaude Y, et al. Septo-optic dysplasia plus: spectrum of malformations of cortical development. Neurology 2000;54:1701-1703.
6. Hoyt WF, Kaplan SL, Grumbach MM, Glaser JS. Septo-optic dysplasia and pituitary dwarfism. Lancet 1970;1:893-894.
7. Orrico A, Galli L, Zappella M, et al. Septo-optic dysplasia with digital anomalies associated wiht maternal multidrug abuse during pregnancy. Eur J Neurol 2002;9:679-682.
8. Greco F, Finocchiaro M, Polizzi A, Caruso M. Early-onset of septo-optic dysplasia. A case report with follow-up. Minerva Pediatr 2002;54:57-62.
9. Webb EA, Dattani MT. Septo-optic dysplasia. Eur. J. Hum. Genet. 2009;18 (4): 393-7.
10. De Morsier G. Studies on malformation of cranio-encephalic sutures. III. Agenesis of the septum lucidum with malformation of the optic tract. Schweiz Arch NeurolPsychiatr. 1956;77:267–92.
11. Castillo M. Neuroradiology companion, methods, guidelines, and imaging fundamentals. Lippincott Williams & Wilkins. (2006) ISBN:0781779499.
12. Hoyt WF, Kaplan SL, Grumbach MM, Glaser JS. Septo-optic dysplasia and pituitary dwarfism. Lancet. 1979;1:893–4
13. Barkovich AJ, Norman D. MR imaging of schizencephaly. AJNR1988;9:297-302.
14. Skarf B, Hoyt CS. Optic nerve hypoplasia in children: association with anomalies of the endocrine and CNS. Arch Ophthalmol 1984;102:62-67
15. Senol U, Karaali K, Aktekin B, et al. Dizygotic twins with schizencephaly and focal cortical dysplasia. AJNR 2000;21:1520-1521.
16. Barkovich AJ, Kjos BO. Schizencephaly: correlation of clinical findings with MR characteristics. AJNR 1992;13:85-94.
17. Barkovich AJ, Kuznieccky RI, Dobyns WB, et al. A classification scheme for malformations of cortical development. Neuropediatrics 1996;27:59-63.