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Department of Radiology and Instituto de Neurologia Deolindo Couto, University Federal of Rio de Janeiro (UFRJ), Rio de Janeiro, RJ, Brazil: Medico Especializando em Radiologia e Diagnostico por Imagem do Instituto de Pos-Graduacao Medica Carlos Chagas (IPGMCC), Rio de Janeiro RJ, Brazil; Medico Residente em Neurologia do Instituto de Neurologia Deolindo Couto, UFRJ; Medica Residente de Radiologia e Diagnostico por Imagem do Hospital Universitario Clementino Fraga Filho, UFRJ; Medico Neurologista do Instituto de Neurologia Deolindo Couto, UFRJ; Professor Adjunto do Departamento de Radiologia, UFRJ. Septo-optic dysplasia (SOD) is a heterogeneous developmental malformation characterized by optic nerve hypoplasia associated with dysgenesis of the septum pellucidum and other cerebral malformations. The clinical manifestations include psychomotor retardation, visual impairment, thermoregulatory disturbances, conjugated hyperbilirubinemia and seizures. In 2000, Miller et al. first named the association of SOD and cortical dysplasia as SOD-plus. In this report, all the cases had severe clinical impairment, presenting global developmental delay and spastic motor deficits. Subsequent reports of SOD-plus also stressed the psychomotor development delay, spastic motor deficits and seizures seen in these patients, emphasizing the severity of the brain involvement. Recently, Kwak et al. reported a case of SOD-plus presenting with cortical dysplasia involving the insular cortex bilaterally. However, differently from all the previous reports, the patient had no signs or symptoms of cortical dysfunction, except for one episode of seizure. We report an additional case of SODplus, which presented extensive cortical malformation, with no signs or symptoms of cortical dysfunction. We suggest that similar to the classical form of SOD, the clinical presentation in patients with SOD-plus can also range from mild to extremely severe.

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