Laporan Kasus : Septo Optic Dysplasia (de Morsier Syndrome)
DOI:
https://doi.org/10.36452/jkdoktmeditek.v26i3.1922Keywords:
septo optic dysplasia, optic nerve hypoplasia, septum pelusidum, pituitari hormone deficiencyAbstract
Septo optic dysplasia (SOD) is a rare disease with 1 of 10,000 live births incidence. It consists of midline brain structure dysgenesis, optic nerve dysgenesis, and pituitary disfunction. We report an 11 year old female with strabismus and visual impairment. Eye examination showed that her visual acuity is 1/60 for right eye and 6/6 for left eye. Neither delay developmental nor neurological disorder was found. Brain CT showed hypoplasia of the right optic nerve sheath and the absence of septum pellucidum. The pituitary was observed to be within the normal limit. Radiology examination has an important role as one of diagnostic tools for SOD because of its superiority in evaluating brain structure and optic nerve.
References
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6. Riviello P, Tyagi V, Milla S. Unilateral optic nerve hypoplasia with asymmetric septum: a case report of unilateral septo-optic dysplasia. J Pediatr Neuroradiol. 2015;03(02):075-9.
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9. Barkovich AJ, Raybaud C. Congenital malformations of the brain and skull. In: Barkovich AJ, Raybaud C, eds. Pediatric neuroimaging, 5th ed. Philadelphia: Lippincott Williams & Wilkins; 2012:367–568.
10. Polizzi A, Pavone P, Iannetti P, Manfré L, Ruggieri M. Septo-optic dysplasia complex: a heterogeneous malformation syndrome. Pediatr neurol. 2006;34(1):66-71.
11. Rajderkar D, Phatak SV, Kolwadkar PK. Septo-optic dysplasia with unilateral open lip schizencephaly: a case report. Ind J Radiol Imag. 2006;16(3)321-3.
12. Lee SH, Yun SJ, Kim DH. Optic nerve sheath diameter measurement for predicting raised intracranial pressure in pediatric patients: a systematic review and meta-analysis. Hong Kong J Emerg Med. Published online 2019. [cited 2020 Nov 2]. Available from : https://journals.sagepub.com/doi/full/10.1177/1024907919892775
13. Bauerle J, Schuchardt F, Schroeder L. Reproducibility and accuracy of optic nerve sheath diameter assessment using ultrasound compared to magnetic resonance imaging. BMC Neurology. 2013;13:187-92.
14. Chen LM, Wang LJ, Hu Y, Jiang XH, Wang YZ, Xing YQ. Ultrasonic measurement of optic nerve sheath diameter: a non-invasive surrogate approach for dynamic, real-time evaluation of intracranial pressure. Br J Ophthalmol. 2019;103(4):437-41.
15. Williams P. Optic nerve sheath diameter as a bedside assessment for elevated intracranial pressure. Case Reports Crit Care. 2017;2017:1-2.
16. Abdelrahman AS, Barakat MMK. MRI measurement of optic nerve sheath diameter using 3D driven equilibrium sequence as a non-invasive tool for the diagnosis of idiopathic intracranial hypertension. Egypt J Radiol Nucl Med. 2020;51(1).
17. Kalantari H, Jaiswal R, Bruck I. Correlation of optic nerve sheath diameter measurements by computed tomography and magnetic resonance imaging. American Journal of Emergency Medicine. 2013;31(11):1595-7.
18. Gasparetto EL, Warszawiak D, Neto AC. Septo-optic dysplasia plus. Arq Neuropsiquiatr. 2003:61(3-A):671-6.
19. Mohapatra S, Nayak R. Holoprosencephaly and dandy walker malformation: a rare association presenting as birth asphyxia. J Neonatal Biol. 2014;03(04):5-7.
20. Egan RA, Kerrison JB. Diagnosing septo-optic dysplasia. Ophthalmol Clin N Am 2003:16:595–605.
21. Ganau M, Huet S, Syrmos N, Meloni M, Jayamohan J. Neuro-ophthalmological manifestations of septo-optic dysplasia: current perspectives. Eye Brain. 2019;11:37-47.
2. Gutierrez-Castillo A, Jimenez-Ruiz A, Chavez-Castillo M, Ruiz-Sandoval JL. Septo-optic dysplasia plus syndrome. Cureus. 2018;10(12):1-6.
3. Maurya VK, Ravikumar R, Bhatia M, Rai R. Septo-optic dysplasia: magnetic resonance imaging findings. Med J Armed Forces India. 2015;71(3):287-9.
4. Webb EA, Dattani MT. Septo-optic dysplasia. European Journal of Human Genetics 2010:18:393-7.
5. Amritanshu K, Karim AR, Banerjee DP. Septo-optic dysplasia with lissencephaly. GJMEDPH 2012:1(6):1-3.
6. Riviello P, Tyagi V, Milla S. Unilateral optic nerve hypoplasia with asymmetric septum: a case report of unilateral septo-optic dysplasia. J Pediatr Neuroradiol. 2015;03(02):075-9.
7. Fernández-Marmiesse A, Pérez-Poyato MS, Fontalba A, deLucas EM, Martinez MT, Pérez MJC, et al. Septo-optic dysplasia caused by a novel FLNA splice site mutation: a case report. BMC Med Genet. 2019;20(1):1-7.
8. Erol FS, Ucler N, Kaplan M. The association of sphenoidal encephalocele and right anophthalmia with septo-optic dysplasia: a case report. Turkish Neurosurgery. 2012;22(3):346-8.
9. Barkovich AJ, Raybaud C. Congenital malformations of the brain and skull. In: Barkovich AJ, Raybaud C, eds. Pediatric neuroimaging, 5th ed. Philadelphia: Lippincott Williams & Wilkins; 2012:367–568.
10. Polizzi A, Pavone P, Iannetti P, Manfré L, Ruggieri M. Septo-optic dysplasia complex: a heterogeneous malformation syndrome. Pediatr neurol. 2006;34(1):66-71.
11. Rajderkar D, Phatak SV, Kolwadkar PK. Septo-optic dysplasia with unilateral open lip schizencephaly: a case report. Ind J Radiol Imag. 2006;16(3)321-3.
12. Lee SH, Yun SJ, Kim DH. Optic nerve sheath diameter measurement for predicting raised intracranial pressure in pediatric patients: a systematic review and meta-analysis. Hong Kong J Emerg Med. Published online 2019. [cited 2020 Nov 2]. Available from : https://journals.sagepub.com/doi/full/10.1177/1024907919892775
13. Bauerle J, Schuchardt F, Schroeder L. Reproducibility and accuracy of optic nerve sheath diameter assessment using ultrasound compared to magnetic resonance imaging. BMC Neurology. 2013;13:187-92.
14. Chen LM, Wang LJ, Hu Y, Jiang XH, Wang YZ, Xing YQ. Ultrasonic measurement of optic nerve sheath diameter: a non-invasive surrogate approach for dynamic, real-time evaluation of intracranial pressure. Br J Ophthalmol. 2019;103(4):437-41.
15. Williams P. Optic nerve sheath diameter as a bedside assessment for elevated intracranial pressure. Case Reports Crit Care. 2017;2017:1-2.
16. Abdelrahman AS, Barakat MMK. MRI measurement of optic nerve sheath diameter using 3D driven equilibrium sequence as a non-invasive tool for the diagnosis of idiopathic intracranial hypertension. Egypt J Radiol Nucl Med. 2020;51(1).
17. Kalantari H, Jaiswal R, Bruck I. Correlation of optic nerve sheath diameter measurements by computed tomography and magnetic resonance imaging. American Journal of Emergency Medicine. 2013;31(11):1595-7.
18. Gasparetto EL, Warszawiak D, Neto AC. Septo-optic dysplasia plus. Arq Neuropsiquiatr. 2003:61(3-A):671-6.
19. Mohapatra S, Nayak R. Holoprosencephaly and dandy walker malformation: a rare association presenting as birth asphyxia. J Neonatal Biol. 2014;03(04):5-7.
20. Egan RA, Kerrison JB. Diagnosing septo-optic dysplasia. Ophthalmol Clin N Am 2003:16:595–605.
21. Ganau M, Huet S, Syrmos N, Meloni M, Jayamohan J. Neuro-ophthalmological manifestations of septo-optic dysplasia: current perspectives. Eye Brain. 2019;11:37-47.
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Published
2020-12-06
How to Cite
Sutrisno, S. (2020). Laporan Kasus : Septo Optic Dysplasia (de Morsier Syndrome). Jurnal Kedokteran Meditek, 26(3), 146–151. https://doi.org/10.36452/jkdoktmeditek.v26i3.1922
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Laporan Kasus
