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

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...

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Veröffentlicht in:Arquivos de neuro-psiquiatria 2019-04, Vol.77 (4), p.294-295
Hauptverfasser: Freitas, Julian Letícia, Rezende, Flávio Moura, Lucato, Leandro Tavares, Sallum, Juliana Maria, Pedroso, José Luiz, Barsottini, Orlando G.
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Sprache:eng
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Zusammenfassung: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. Optical coherence tomography showed bilateral retinal nerve fiber layer thinning. Septo-optic dysplasia was diagnosed. Septo-optic dysplasia is usually reported in children, and is characterized by optic nerve hypoplasia, absent septum pellucidum, cortical malformations and pituitary dysfunction. This patient had no endocrinopathy, and presented with late onset epilepsy, which is unusual in septo-optic dysplasia. The typical MRI changes and optic abnormalities were the clues for the diagnosis.
ISSN:0004-282X
1678-4227
1678-4227
DOI:10.1590/0004-282X20190039