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Arquivos de Neuro-Psiquiatria

versión impresa ISSN 0004-282Xversión On-line ISSN 1678-4227

Arq. Neuro-Psiquiatr. vol.77 no.4 São Paulo abr. 2019  Epub 13-Mayo-2019 

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 Freitas1 

Flávio Moura Rezende Filho1 

Leandro Tavares Lucato2 

Juliana Maria Sallum3 

José Luiz Pedroso1

Orlando G. Barsottini1 

1Universidade Federal de São Paulo, Departamento de Neurologia e Neurocirurgia, São Paulo SP, Brasil;

2Universidade de São Paulo, Faculdade de Medicina, Hospital das Clínicas, Seção de Neurorradiologia, São Paulo SP, Brasil;

3Universidade Federal de São Paulo, Departamento de Oftalmologia, São Paulo SP, Brasil.

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.

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). 

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 dysfunction1. This patient had no endocrinopathy, and presented with late onset epilepsy, which is unusual in septo-optic dysplasia1,2. The typical MRI changes and optic abnormalities were the clues for the diagnosis2.


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. ]

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. ]

Received: November 14, 2018; Accepted: December 26, 2018

Correspondence: José Luiz Pedroso; Departamento de Neurologia/Ataxias da Escola Paulista de Medicina da UNIFESP; Rua Pedro de Toledo, 650; 04023-062 São Paulo SP, Brasil; E-mail:

Conflict of interest: There is no conflict of interest to declare.

Creative Commons License This is an Open Access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.