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CC BY-NC-ND 4.0 · Arq Neuropsiquiatr 2019; 77(04): 294-295
DOI: 10.1590/0004-282X20190039
Images in Neurology

Septo-optic dysplasia with late-onset seizure: MRI and ophthalmological features

Displasia septo-óptica com epilepsia tardia: neuroimagem e alterações oftalmológicas
Julian Letícia Freitas
1   Universidade Federal de São Paulo, Departamento de Neurologia e Neurocirurgia, São Paulo SP, Brasil;
,
Flávio Moura Rezende Filho
1   Universidade Federal de São Paulo, Departamento de Neurologia e Neurocirurgia, São Paulo SP, Brasil;
,
Leandro Tavares Lucato
2   Universidade de São Paulo, Faculdade de Medicina, Hospital das Clínicas, Seção de Neurorradiologia, São Paulo SP, Brasil;
,
Juliana Maria Sallum
3   Universidade Federal de São Paulo, Departamento de Oftalmologia, São Paulo SP, Brasil.
,
José Luiz Pedroso 
1   Universidade Federal de São Paulo, Departamento de Neurologia e Neurocirurgia, São Paulo SP, Brasil;
,
Orlando G. Barsottini
1   Universidade Federal de São Paulo, Departamento de Neurologia e Neurocirurgia, São Paulo SP, Brasil;
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A 31-year-old man presented with tonic-clonic seizures, started at 15-year-old, that improved with carbamazepine. Fundoscopy disclosed small optic discs and arterial tortuosity. Neurological examination and visual acuity were normal. Brain MRI showed hypoplasia of the optic nerves, absence of septum pellucidum and polymicrogyria ([Figure 1]). Optical coherence tomography showed bilateral retinal nerve fiber layer thinning ([Figure 2]). Septo-optic dysplasia was diagnosed.

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Figure 1 (A) Axial T2-weighted image shows absence of septum pellucidum. (B) Axial FLAIR sequence demonstrates hypoplasia of the optic nerves, more marked on the right (arrows). (C) Coronal T1-weighted image shows absence of septum pellucidum and polymicrogyria in posterior sylvian fissures (arrows).
Zoom Image
Figure 2 A: Retinography shows hypoplastic optic disc in OD and small disc in OS, arterial tortuosity (asterisks) and reduced visibility of the retinal nerve fibers (arrows) bilaterally. B and C: Absent cup in OD and bilateral temporal pallor. D and E: Thickness maps and graphs show retinal nerve fiber layer thinning in both eyes.

Septo-optic dysplasia is usually reported in children, and is characterized by optic nerve hypoplasia, absent septum pellucidum, cortical malformations and pituitary dysfunction[1]. This patient had no endocrinopathy, and presented with late onset epilepsy, which is unusual in septo-optic dysplasia[1],[2]. The typical MRI changes and optic abnormalities were the clues for the diagnosis[2].



Publikationsverlauf

Eingereicht: 14. November 2018

Angenommen: 26. Dezember 2018

Artikel online veröffentlicht:
16. August 2023

© 2023. Academia Brasileira de Neurologia. This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commecial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/)

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  • References

  • 1 Miller SP, Shevell MI, Patenaude Y, Poulin C, O’Gorman AM. Septo-optic dysplasia plus: a spectrum of malformations of cortical development. Neurology. 2000;54(8):1701-3. https://doi.org/10.1212/WNL.54.8.1701
  • 2 AlKhateeb M, McLachlan R, Burneo J, Diosy D, Mirsattari S. Six adult patients with septo-optic dysplasia and drug-resistant epilepsy: Clinical findings and course. Epilepsy Behav Case Rep. 2017;8:73-84. https://doi.org/10.1016/j.ebcr.2017.04.001