Septo-optic dysplasia plus: case report

Abstract

-Septo-optic dysplasia (SOD) is a syndrome composed by optic nerve and septum pellucidum dysgenesis. It has been classified into two subsets according to the embryogenesis and the neuropathological findings. Basically, the difference between these two groups is the presence or not of schizencephaly. The term SOD-Plus was recently proposed to describe SOD associated with cortical dysplasia. We report a 6-month-old female patient who presented absent visual fixation since 4 months of age and delayed psychomotor development. Neurological examination demonstrated spastic left hemiparesis and ophtalmological evaluation revealed bilateral optic disc hypoplasia. The head computed tomography (CT) scan showed absence of the septum pellucidum, ventricular asymmetry and schizencephaly. The magnetic resonance imaging (MRI) showed complete absence of the septum pellucidum associated to optic nerves and chiasma atrophy, schizencephaly and cortical dysplasia. The patient underwent an evoked potential examination with flash stimulation, which revealed bilateral absence of cortical evoked potential. She was referred to visual stimulation and physiotherapy. We emphasize the neuroimaging of this syndrome and stress the importance of the clinical investigation for patients with septum pellucidum dysgenesis on MRI or CT scans.KEY WORDS: magnetic resonance imaging, computed tomography, septo-optic dysplasia, septum pellucidum. Displasia septo-óptica plus: relato de casoRESUMO -A displasia septo-óptica (DSO) é síndrome composta por disgenesia do nervo óptico e do septo pelúcido, que pode ser dividida em dois subgrupos de acordo com sua embriogênese e achados neuropatológicos. A diferença básica entre estes dois grupos é a presença ou não de esquizencefalia. O termo DSO-plus foi proposto recentemente para descrever DSO associada a displasia cortical. Apresentamos uma paciente de 6 meses de idade com ausência de fixação visual desde os 4 meses e atraso do desenvolvimento psicomotor. O exame neurológico demonstrou hemiparesia espástica esquerda e a avaliação oftalmológica revelou hipoplasia do disco óptico bilateralmente. A tomografia computadorizada (TC) de crânio demonstrou ausência de septo pelúcido, assimetria ventricular e esquizencefalia. A ressonância magnética (RM) revelou ausência completa de septo pelúcido associada a atrofia dos nervos e quiasma ópticos, esquizencefalia e displasia cortical. A paciente foi submetida a exame de potencial evocado com estimulação por flashes que revelou ausência bilateral de potencial evocado cortical. Terapia paliativa foi iniciada com estimulação visual e fisioterapia. Os autores enfatizam os achados de neuro-imagem desta síndrome e a importância da investigação clínica e por métodos de imagem (TC e RM) em pacientes com disgenesia do septo pelúcido. PALAVRAS-CHAVE: ressonância magnética, tomografia computadorizada, displasia septo-óptica, septo pelúcido.

Découverte anténatale d’une dysplasie septo-optique (syndrome de De Morsier)

“…Ainsi certains proposent une classification en trois types définis par les anomalies observées et leur pathogénie [5].…”

“…Des cas ont été considérés comme liés à une transmission autosomale récessive [5]. Le facteur génétique identifié serait une mutation hétérozygote du gène Hesx1 [6,7].…”

Septo-optic dysplasia plus: clinical presentation and magnetic resonance imaging findings

“…The clinical presentation of these patients may range from mild to severe signs and symptoms [1][2][3][4] . In 2000, Miller et al 2 , described three children with global developmental delay and two of then also had spastic motor deficits.…”

“…The clinical features of these patients with SOD-plus were distint from the classical form of SOD due to the presence of significant global developmental delay and motor deficits. Since this first report, several cases of SOD-plus were published, all of them associated with severe clinical sings and symptoms 3,4 . Nevertheless, Kwak et al 5 reported an oligosymptomatic case of SOD-plus with the first attack of generalized tonic type seizure lasting for one minute at the age of 29.…”

“…The clinical manifestations include psychomotor retardation, visual impairment, thermoregulatory disturbances, conjugated hyperbilirubinemia and seizures [1][2][3][4] . In 2000, Miller et al 2 first named the association of SOD and cortical dysplasia as SOD-plus.…”